Congenital Heart disease/Cyanotic HD

Dra. Balderas November 22, 2012

2013B Trans-
HEART DISESE IN THE PHILIPPINES
• Cardiovascular disease , from all causes, has become
the top of the 10 causes mortality in the Philippines
since 1995.
• Among infants, congenital malformation from heart defects
1
is the sixth of the top 10 causes of mortality. (Philippine
Health Statistics, Department of Health 2000).
• In all age groups, child mortality due to congenital
anomalies is 9.01/ 100,000 live births.
• Cardiovascular risks factors of hypertension, obesity, and
hypercholesterolemia becomes the rising concern in older
children and adolescents (starting in the 5-9 age group) ,
since these may contribute to Coronary artery disease of
adulthood.
CONGENITAL HEART DISEASE INCIDENCE
• The recent estimates of the incidence of congenital heart Factors Specific Risk Common Associated
disease in live newborns vary from 4.1/1000 to 12.3/1000.
2 Factors CHD
• The occurrence has been globally summarized as I. Host a) Prematurity  Persistently Patent
indicating a prevalence of approximately: Factors Ductus Arteriosus
– 3 per 1000 live births for clinically severe b) Residence in  Patent Ductus
conditions, High Altitude Arteriosus
– 6 per 1000 including moderately serious
conditions ,
– and 9 per 1000 up to 15-20 per 1000 when II. Maternal a)DM, uncontrolled  Conotruncal
further including smaller Septal defects and Factors Abnormalities, TGA
milder valvar Stenosis.  AV septal Defect
 Idiopathic
CHD PREVALENCE IN THE PHILIPPINES Hypertrophic
• Prevalence of congenital heart disease at birth is 5 per Subaortic Stenosis
• 1,000 live births.
b) Maternal Febrile  LVOT Obstruction
• It declines rapidly as many of the cases die in infancy.
Illness with Conotruncal
• At about five years of age - 1.5 per 1,000 st
Influenza in the 1 Abnormality
• > eight years of age onwards -remains at 1.2 per 1000
Trimester (6-8%  Tricuspid Atresia
chance)  d-TGA and other
Relative Risk:1.5-3 Conotruncal
Abnormalities

c) Rubella  Patent Ductus

Arteriosus
 Peripheral Pulmonary
Artery Stenosis
 Sometimes, deafness
and cataract
d) Maternal  Tetralogy of Fallot,
Phenylketonuria VSD, LVOTO
Relative risk:
up to 6
e) Retinoic Acid  Conotruncal
Probably abnormalities
Isotretinoin by
mouth,
topical tretinoin
Dr. Balderas: VSD: most common acyanotic congenital heart dse;
probably not
ASD: most common heart dse in adulthood because usually
undetected in young children (they usually become symptomatic f)Smoking  Septal defects, others
after the 10-20th decade of life when they have the signs of especially if both
pulmonary hypertension); TOF: most common in all countries parents smoke

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 g) Obesity if  Several heart defects,
BMI >29 including conotruncal • In the fetal circulation, there are four existing shunts : the
unclear causality defects, unclear if placenta, being the largest shunt, the ductus venosus, the
Relative risk: 1-3 specific patent foramen ovale and the patent ductus Arteriosus.
• . The rule intrautero is “ no flow- no development”.
h) Caffeine  No clear association o The lungs intrautero is a low- flow and high-
resistance organ , and therefore receives only
i) Alcohol  Possibly several heart 25% of the cardiac output during systole.
With inconsistent defects including o Blood is shunted to the patent ductus Arteriosus
studies.Some do conotruncal (PDA) to the descending aorta and the
not find any abnormalities umbilical arteries and back to the placenta.
association. o The right ventricle is the more dominant chamber
intrautero because it receives all of the blood
III. Genetic a) Mother has CHD  5-10% CHD risk up to from the superior vena cava and 2/3 of the blood
Factors three generations from the inferior vena cava. Only 1/3 of the
b) Sibling has CHD blood from the IVC crosses the patent foramen
 2-3% CHD risk up to ovale to the left ventricle, and thus is smaller
c) Left-sided three generations intrautero.
obstructive Dr. B: RV more developed and prominent in the newborn up to aged 3-
defects  8-19% with 4 because by law of gravity, all blood from the RA will go to RV and
Hypoplastic left concordant lesion in only 1/3 of the blood will cross the patent foramen ovale ( that’s why
heart: aortic first degree relatives LV is smaller than RV)
stenosis,
coarctation of the TRANSITIONAL CIRCULATION
aorta. • The first cry is the hallmark of the transitional circulation.
IV. a) Trisomy 21  Atrioventricular Septal Absence of the first cry delays this transition and may
Associated 50-80% incidence Defect,Ventricular cause varying degrees of cyanosis in the newborn, even
with Septal Defect, Patent with a normal heart. This explains the varying spectrum of
Chromosom ductus arteriosus cyanosis in the newborn with Persistent Pulmonary
al Anomalies Hypertension of the newborn as the worst in the spectrum.
b) Trisomy 18  VSD • Interruption of the umbilical cord results in :
(Edward’s o increase in SVR as a result of the removal of a
syndrome) low resistance placenta
80% closure o closure of the ductus venosus as a result of lack
c) Trisomy 13  VSD of blood return from the placenta
80-90% chance Dr. B: Anatomic Closure of the Patent Ductus Arteriosus- complete in
d) Turner’s  Coarctation of the 2-3 weeks
syndrome Aorta Dr. B: First 12 hrs of life is very important for you to check the
presence of cyanosis
(45,XO)  Hypertension
First follow- up after birth is the best time for you to check if there is
e)Marfan’s  Mitral Valve Prolapse congenital heart dse kase close na lahat
syndrome  Aortic Aneurysm • Lung expansion results in :
f) Noonan’s  Pulmonic Stenosis o reduction in pulmonary vascular resistance
syndrome  Coarctation of Aorta (PVR) , increase in PBF and fall in PA pressure
g) William’s  Aortic stenosis usually o functional closure of the foramen ovale as a
syndrome supravalvar result of increased pressure in the LA in excess
Dr. B: TGA: Transposition of the Great Arteries LV gives rise to the of RA pressure
pulmonary a. and RV to aorta (Dr. B: kasama to sa exam ) o closure of patent ductus arteriosus as a result of
Dr. B: Rubella Syndrome: heart dse, hearing defect, and cataract increase in O2 saturation
Fever in the 1st trimester is worrisome because formation of the heart is Dr. B: Rule in the heart: blood will flow from high pressure to low
in the 6-8th week of life– relative risk 1.5- 3 or to 6- 8 % chance pressure
Left sided obstructive defects: mitral valve atresia and hypoplastic What happens in ventricular septal defect?
left heart syndrome Blood will not flow pa from LV to RV kase mataas pa ang pressure sa
Px with chromosomal anomalies: screening (2D echo) is mandatory RV and that is the reason why you do not hear a murmur at birth for
even if asymptomatic those with shunt lesions (VSD, PDA are not detected in the newborn
Noonan Syndrome: with webbed neck,common in males you only detect them when the pressure in the RV decreases over time)
Shunt lesion are usually detected after 2 weeks of life
FETAL CIRCULATION Neonatal Conditions that may Interfere with The
Normal Maturation of Pulmonary Arterioles
• Hypoxia and/ or altitude
• Lung disease (Hyaline Membrane Disease)
• Acidemia
• Increased PA pressure because of large Shunt : VSD or
PDA
• Increased pressure in the Left Atrium or pulmonary vein
Closure of the Ductus Arteriosus
 Occurs by constriction of the medial smooth muscles in the
ductus: occurs 10 -15 hours after birth(functional closure)

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 Anatomic closure completed in 2-3 weeks of life by
permanent changes in the endothelium and subintimal layers
of the ductus
o May remain patent in presence of congenital heart
disease especially when associated with cyanosis.
o Normal ductus arteriosus has a significant amount of
circularly arranged smooth muscle in its medial layer.
o Patency of ductus arteriosus appears to be maintained
by the combined relaxant effects of oxygen tension and
endogenously produced prostaglandins (E2).
Factors that Favor Closure of the Ductus
 Oxygen- strongestArteriosus
stimulus for constriction of smooth
muscles
 Decrease Prostaglandin E2 levels
 Responsiveness of the ductal smooth muscle to oxygen
for closure depends on:
o gestational age of the newborn
o Does not depend on the lack of smooth muscle
development.
Dr. B: In the premature child who has an open PDA and is in heart
failure in the 1st 10 days of life, we give Indomethacin to control the
heart failure and to close the PDA
Prostaglandin- opens the PDA
Indomethacin- closes the PDA
Alterations in Pulmonary Physiology After
Birth

Alter
Physiologic Classification of Congenital Heart
Disease: 5 Basic Questions
1. Is the child cyanotic or acyanotic?
What to ask:
 Birth history: is the patient cyanotic at birth?
 If yes, when did it start?
 Early cyanosis- within the first 15 days.
 More common cause: Transposition of the great
arteries (very cyanotic at birth), pulmonary valve
atresia (no flow to the lungs). These are
Alterations in Respiratory Pathology in CHD emergency situations.
 Late onset cyanosis: Tetralogy of Fallot
 Age of congestive heart failure: 2 weeks of life
until 6 months of age maximum 1 year of age
Dr. B: If there is cyanosis either there is a connection between
shunts or an obstruction of the flow (Dr. B: 10% lang ang cyanosis with
cardiac etiology in pediatrics)
2. Is the pulmonary blood flow increased or decreased?
What to do? Ask, hear, look:
 Count the respiratory rate
 > 60 in the neonates indicates increased
pulmonary blood flow
 >30 in children is increased
 Check the X-ray- if the vascularity extends to the
periphery then the pulmonary blood flow is increased.
3. Origin of the malformation, LEFT OR RIGHT SIDE?
How to assess in physical examination?
EFFECTS OF CHD on RESPIRATORY  Look at the PMI, PMI in the newborn until 3 years of
FUNCTION age is in 4th ICS LMCL.
-If there is an increase in PBF, the patient will present HF with  If it is in 5th ICS and in conjunction with the sign and
pulmonary congestion and CHF. symptoms then there maybe a shunt leading to left
-If decreased PBF, this patient might present cyanosis with or ventricular enlargement.
Dr. B: Tricuspid Valve Atresia- only one lesion in the newborn which
without pulmonary congestion
causes increased LV enlargement (no opening to the RV so all of the
blood will go to LV)
Eisenmenger's syndrome- a previous congenital heart dse with a left
to right shunt now shifts to a right to left shunt manifesting cyanosis
because of an increased pressure in the lungs
PMI is shifted lateral and downwardLV is enlarged
ECG in children has 15 leads (+ V3R and V4R to see the RV)

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 3.Does the EKG LOOK :
malformation PHYISCAL a. Check PMI – is
4. Which is the dominant ventricle? originate in the EXAM it shifted lateral
 History and PE here is very important left or right and
 Is the patient cyanotic or acyanotic? side of the downwards ?
 Is the pulmonary flow increased or heart? b. Check EKG-
decreased?Get an Xray to confirm if it’s R voltage
increased. V1V3RV4R-
 EKG will confirm if the left ventricle is increased RVH
or not V5V6V7 – LVH
 In 90% with no. 1-4 you get a diagnosis of the right
type of congenital heart disease
5. Is pulmonary hypertension present or not?
 Previously left to right heart disease may become
4. EKG Same as #3
right to left in Eisenmanger when they are not
Which is the
corrected or when the pressure starts to increase
dominant
when they are not corrected.
ventricle
 There is onset of cyanosis usually after 2 years
of age in uncorrected congenital heart disease
 Late onset cyanosis is an indication of
pulmonary hypertension.
 You will have a different approach in a patient who
has congenital heart disease then comes to you after
5 or 7 years of age uncorrected. Look for signs of
pulmonary hypertension or cyanosis.

STEP WISE AIDS TO ASKING QUESTIONS

EVALUATION DIAGNOSIS 5. History and ASK :
OF Is pulmonary Physical 1. Onset of cyanosis
CONGENITAL hypertension Examination usually after 6
HEART DS present or not? Chest X-ray years of age or at
EKG adolescents
1. ASK: nd
2D
Is the child HISTORY AND a. Birth history : Term or 2. 2. Check PE: 2
echocardiogram
cyanotic or PHYSICAL preterm; Apgar heart sound (P2) is
acyanotic? EXAMINATION b. If Cyanosis the P2 normal,
I Onset at birth, within accentuated or
first 15 days of life or palpable?
after
Ii Confirm if cyanosis
occurs on crying or
feeding
c. If acyanotic, onset of Tools in Assessment of CHD
signs and symptoms
1. Is the patient cyanotic or acyanotic?  History & PE
2. Is the pulmonary arterial flow increased or not?  Chest X-
ray
3. Does the malformation originate in the left or right side of the
2. HISTORY and LOOK: heart?  EKG (15 leads)
Is the PHYSICAL a. Count the RR. 4. Which is the dominant ventricle?  EKG (15 leads)
pulmonary EXAMINATION An RR more 5. Is pulmonary hypertension present or not?  2D Echo,
blood flow CHEST XRAY than 60 is Cardiac Catheterization
increased or increased in
decreased? infants, and an Physiologic Classification of CHD
RR more than
30 is increased
in children
b. Chest X-ray :
Check Pulmonary
vascularity

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Dr. B: PDA: you will hear the murmur at the 2nd ICS (over the left 2. Neurohumoral Effects: Activation of sympathetic NS
upper sternal border up to the back) and renin- angiotensin system  plasma NE and E, 
O2 saturation in the LV is 96-100 %
cardiac hormone ß-type natriuretic peptide
O2 saturation in the RV is 65-70%
Aortic Pressure: 100/60mmHg (BNP)Tachypnea, Diaphoresis
3. Metabolic Effects:  respiratory effort and myocardial
work metabolic expenditures,  oxygen consumption,
 nutritional intake POOR GROWTH / FAILURE TO
THRIVE
4. Increase return to the left side of the heart = left-
sided CARDIOMEGALY
 Bigger defect  LA enlargement, LV
enlargement
 exception ASD - RA enlargement and RV
enlargement
EVALUATION OF ACYANOTIC CHD
History: PBF pr Normal or PBF
1.
2.
PE
3.
ECG, CXR, 2D echo
Increased PBF (L to R shunt)
LVH RVH
LEFT TO RIGHT SHUNTS PDA ASD

History and PE findings can give clues VSD PAPVR

The size of the shunt affects the magnitude of the AVSD Eisenmenegr’s
increase in PBF: AP Window
o Small shunts --- less symptoms
o Large shunts --- more symptoms
1. Ventricular Septal Defect
2. Patent Ductus Arteriosus
3. Atrioventricular Septal Defect
4. Aortopulmonary window- a connection at any one point
between the aorta and pulmonary artery. It’s a kissing
heart (nakadikit) versusPDA in which there is a structure
connecting both.
AP window is more severe than PDA
AVSD is more severe than VSD, since it’s a larger defect and
must be corrected before 6 months of age.
PATHOPHYSIOLOGY
• Anatomic communication between the pulmonary
circulation and systemic circulation
• Excess blood flow occurs from the systemic (left side) to
the pulmonary (right side) VENTRICULAR SEPTAL DEFECT
• Oxygenated pulmonary venous blood is re-circulated
through the lungs  Most common CHD
• Excess pulmonary blood flow (PBF) causes congestive
heart failure
o depends on SIZE of the shunt and
AMOUNT of PBF
DETERMINANTS OF SHUNT SIZE
1. Location of the communication
2. Size of the communication
3. Age of the patient  Defect can occur anywhere along the inter-ventricular
4. Relative resistance to blood flow on the other side of septum
the communication  hole or a defect in the septum that divides the 2 lower
chambers of the heart and that results in a
CLINICAL MANIFESTATIONS W/  PBF communication between the ventricular cavities.
• Dyspnea and Tachypnea  may occur as a primary anomaly with or without
• Frequent Lower Respiratory Tract Infection additional major associated cardiac defects.
• Failure to Thrive  VSD may occur as a single component of a wide
• Easy Fatigability variety of intracardiac anomalies, namely, tetralogy of
• Edema Fallot (TOF), complete atrioventricular (AV) canal
• Heart Murmur defects, transposition of great arteries, and corrected
EFFECTS ON VARIOUS SYSTEMS transpositions.
1. Pulmonary Effects: Increase pulmonary venous return  Incidence : approximately 2-6 of every 1000 live
to LA/LV Signs of Congestive Heart Failure & births
 accounts for more than 20% of all congenital heart
pulmonary edemaTACHYPNEA
diseases. VSDs are the most common congenital
heart defects encountered after bicuspid aortic valves

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From Nelson’s:
 Membranous type- posteroinferior position, anterior to
the septal leaflet of the tricuspid valve
 VSDs bet. the crista supraventricularis and papillary
muscle of conus may be assoc. with pulmonary
stenosis and TOF
 Supracristal VSDs- less common, found beneath
pulmo valve and may impinge on aortic sinus-> cause
aortic insufficiency
 Muscular type- ound in midportion or apical region of
the ventricular septum
Dr. B: There are only 2 congenital defects that will cause LV
enlargement: VSD and PDA
The right physical finding for a VSD: systolic murmur is best heard at
the left lower sternal border with no radiation
TERMINOLOGY
 1879 : First clinical description - Roger's article published
 The phrase maladie de Roger - used to refer to a small
asymptomatic VSD.
 In 1898, Eisenmenger described a patient with VSD,
cyanosis, and pulmonary hypertension.
EISENMENGER COMPLEX (EC)
 Combination of a VSD, pulmonary vascular disease and
cyanosis
 Again, pressure of the LV should be higher than RV. The
pressure of RV will rise over time because of increase in
flow. Due to increase in flow in that area, the Pulmonary A
will slowly thicken will lead to development of pulmonary
arterial HTN if the lesion is persistently open up to 6
months of age.
 50 and above is moderate pulmonary HTN, 80 and above
is severe.
 The left to right shunt is shifted to right to left and
produces some degree of cyanosis EC
EISENMENGER SYNDROME (Wood, 1958)
 Pulmonary vascular disease and cyanosis in combination
with any other systemic-to-pulmonary connection
 There is a significant amount of thickening in the
pulmonary artery, hypertrophy of the pulmonary artery and
it is irreversible.
 There is a change in murmur overtime because of the
change in size and in pressure of the RV. The
characteristic murmur is pansystolic murmur.
 If the pressure in the RV increases to 2/3 of the LV the
murmur will become systolic ejection murmur.
 Heath and Edwards described the morphologic changes
associated with pulmonary vascular disease in 1958, and
their 6 categories of vascular change have remained the
standard of comparison to the present (Heath, 1958).
 1972: Echocardiography added morphologic classification
of VSD
 The echo will now give you the type of VSD.
 The type will tell you the sound of murmur & the natural
history if it will close spontaneously or not.
 The reason why we do not close VSD at birth is to give
time for VSD to close by itself. 80% of the time will close in
the 1st year of life and 20% will close at 2nd year of life.
 The closure of VSD depends on the size and location of
VSD.
CLASSIFICATION
 Area of the VSD will predict the natural outcome; the more
muscular it is the higher is chance that it will close by itself.
For most of the VSD, you wait for it to close by itself until 2
years of age.
If it does not close by 2 years of age, consider surgery
Muscular type of VSD, don’t touch them unless they are
many
SECTION B UERMMMC Class 2014
1. Perimembranous (infracristal, conoventricular)
• Most common type of VSD
• Most common VSD that closes spontaneously
 Closes spontaneously by 80% of the time since
it is close to the tricuspid valve
 Overtime the tricuspid valve will create a septum
or a part of the valve will close the VSD which is
called a ventricular septal aneurysm
• Lie in the LV outflow tract just below the aortic valve.
• Perimembranous VSDs are associated with pouches or
aneurysms of the septal leaflet of the tricuspid valve,
which can partially or completely close the defect.
• An LV-to-RA shunt may be associated with this defect.
2.Supracristal(conal septal, infundibular, subpulmonic,
subarterial, subarterial doubly committed, outlet) defects
 Account for 5-8% of isolated VSDs in the United States
but 30% of isolated VSDs in Japan
 A high lying type of VSD, close to the pulmonary artery
o Because it is high lying, you can find a pan systolic
murmur on the left upper parasternal border.
 Lie beneath the pulmonic valve and communicate with
the RV outflow tract above the supraventricular crest
 No chance for closure. It is only CHD that does not
close
 Associated with aortic regurgitation secondary to the
prolapse of the right aortic cusp.
 Since it is close to the outflow it sometimes create aortic
insufficiency
3.Muscular VSDs (trabecular)
 Are entirely bounded by the muscular septum and are
often multiple.
 Swiss-cheese septum has been used to describe
multiple muscular VSDs.
 Other subclassifications depend on the location and
include central muscular or midmuscular, apical, or
marginal when the defect is along the RV-septal junction.
These VSDs account for 5-20% of all defects.
 Highest chance of closure
4.Posterior (canal-type, endocardial cushion–type, AV
septum–type, inlet, juxtatricuspid) VSDs
 Lie posterior to the septal leaflet of the tricuspid valve.
 Although locations of posterior VSDs are similar to
those of VSD observed with AV septal defects, they are
not associated with defects of the AV valves.
 About 8-10% of VSDs are of this type
Dr. B: Most subpulmonic type defects do not close by
themselves and they are closed surgically
Most common VSD which causes aortic insufficiency:
Subpulmonic Type Defects
PATHOPHYSIOLOGY
 The pathophysiologic effects of a VSD are secondary to
hemodynamic effects secondary to a left-to-right shunt
and changes in the pulmonary vasculature
 A left-to-right shunt at the ventricular level has 3
hemodynamic consequences:
o Increased LV volume load, excessive pulmonary
blood flow, and reduced systemic cardiac output.
Pediatrics I 6 | 19

LEFT to RIGHT SHUNT
• Determinants of L  R shunt
• Size of VSD
• Difference in resistance between pulmonary
and systemic circulation
• Difference in pressure between RV and LV
• Shunt flow occurs in systole
• The degree of the left-to-right shunt determines the
magnitude of the changes
• The left-to-right shunt depends on 2 factors:
• 1 . anatomic –size of the VSD is physiologic.
• 2. Factor - resistance of the pulmonary
vascular bed.
• location of the VSD is irrelevant in terms of
the degree of the shunt.
• 3. LV and RV pressure
• In a normal heart, RV pressure is about 25%
that of the LV.
• Restrictive VSD - in a small VSD, the
normal pressure difference between the
ventricles is maintained.; because flow
across the defect is somewhat restricted.
• In a large VSD, this pressure difference is no
longer maintained because these holes offer
no resistance to blood flow. They are also
consequently called nonrestrictive VSDs.
Nelsons:
 Direction of shunting and shunt magnitude=
determined by ratio of pulmonary to systemic
vascular resistance
 Primary anatomic variable that determines the
physiologic state of the patient is the SIZE.
LABORATORY FINDINGS
1. Chest X-ray- increase PVM, cardiomegaly
Notice that pulmonary vascularity extends to the edge 
Increase pulmonary blood flow
SECTION B UERMMMC Class 2014
There is cardiomegaly because the apex is shifted
downwards. If there absence of blunting at the diaphragm,
it tells you that there is left ventricle enlargement and the
heart is shifted downwards.
2. ECG- LAE, LVH
 (Nelson’s)- presence of RVH on ECG-> warning that
defect is not small and px has pulmo hpn or assoc.
lesion such as pulmonic stenosis
3. Echo- location/size of shunt; LA and LV size; amount and
direction of shunt; estimate PAP
a. VSD, PLAX b. VSD, apical, c. VSD.
Muscular
(a) (c)
(a) (c)
(b)
NATURAL HISTORY
1. Spontaneous closure frequently occurs in children, usually
occurs by the age of 2 years. Closure is uncommon after 4
years of age.
 Closure is most frequently observed in muscular defects
(80%), followed by perimembranous defects (35-40%).
Outlet VSDs have a low incidence of spontaneous
closure, and inlet VSDs do not close.
 A small VSD that does not spontaneously close is
generally associated with a good prognosis
2. Risk for infective endocarditis. If you have a regurgitant flow,
the presence of infection in any part will cause the bacteria to
grow in the regurgitant part vegetation
 Development of IE is the reason is one of the factors
which they consider in the issue whether to close or not
to close the VSD.
 If with IE- common dictum is close the VSD.
3. Small perimembranous VSD are associated with an increased
risk of prolapse of the aortic cusp over time
4. Risk of malignant ventricular arrhythmia
5. 45% incidence of LV-to-RA shunts and a 6% incidence
subaortic ridges during 20-year follow-up of about 900
patients with perimembranous
6. Develop pulmonary hypertension and cause
eisenmangerization
7. It can cause aortic insufficiency in the case of subpulmonic
types
Nelsons:
 Patients are also at risk for aortic valve regurgitation,
greatest risk for those with supracristal VSD
Pediatrics I 7 | 19
  Patients with Small VSDs and normal Pulmo arterial
pressure- asymptomatic, only found on routine PE
 Characteristic: Loud , harsh or blowing
holosystystolic murmur- present -> heard best over
the lower LSB, accompanied by a thrill
 Patients with Large VSDs, excessive pulmo hpn, and
blood flow- dyspnea, feeding difficulties, poor growth,
profuse perspiration, recurrent pulmo infections and
cardiac failure
 Cyanosis usually absent
 Common: prominence of left precordium,
palpable parasternal lidt, laterally displaced
apical impulse and apical thrust and systolic
thrill
Dr. B: So ang objective natin dito, must know ang Patho and Clinical
Recognition, nice to know lang muna ang treatment
Associated Syndromes
Syndrome CCVM, (%) Type of CCVM
 Del 4q, 21, 32 - 60% VSD, atrial septal defect (ASD)
 Del 5p 30-60% VSD
 Trisomy 13 – 80%. ASD, VSD, TOF
 Trisomy 18, Edwards Synd – 100%. VSD, TOF, double-
outlet RV (DORV)
 Trisomy 21, Down syndrome 40-50%. VSD, AV canal
(AVC)
 Del 22q 11, DiGeorge syndrome (single gene etiology,
autosomal dominant) - 50 Truncus arteriosus, TOF,
VSD
Indications for Surgery
 Uncontrolled CHF, including growth failure and recurrent
respiratory infection is an indication for surgical repair.
Neither the age nor the size of the patient is prohibitive in
considering surgery.
 Large, asymptomatic defects associated with elevated PA
pressure are often repaired when infants are younger than
1 year.
 Surgical repair is indicated in older asymptomatic children
with normal pulmonary pressure if pulmonary to systemic
flow is greater than 2:1.
 Prolapse of an aortic valve cusp. Early repair may prevent
progression of the aortic insufficiency
 Interventional closure of the VSD especially for the
perimembranous types
Nelson’s:
 For patients in whom clinical symptoms and failure to
thrive cannot be controlled medically
 Infants bet. 6 and 12 months assoc. with pulmo hpn
even if symptoms are controlled medically
 Patients older than 24 mo. With a Qp:Qs greater than
2:1
 Pxs with supracristal VSD of any size due to high risk
for AV regurgitation
 Severe pulmonary vascular disease= contraindication
to closure of VSD
Medical/Legal Pitfalls
 Failure to distinguish pathologic murmur of VSD from
innocent physiologic murmurs
o To distinguish pathologic to physiologic murmur 
change in position. You can hear more murmur when
lying down, and it disappear when sitting down =
physiologic murmur.
 Failure to recognize subtle signs and symptoms of VSD
o Listen to the quality of the murmur, the quality of the
murmur will give you the degree of pulmonary HTN.
o Arising pulmonary HTN is an indication for surgery.
 Failure to detect VSD early and to refer patient for surgical
repair to prevent complications, including sudden death.
SECTION B UERMMMC Class 2014
PATENT DUCTUS ARTERIOSUS
• 5-10% of CHD
• Communication between the aorta and pulmonary
artery
• Risk factors : prematurity, rubella
• One of the more common CHD
• A remnant of the distal sixth aortic arch and connects
the pulmonary artery at the junction of the main
pulmonary artery and the origin of the left pulmonary
artery to the proximal descending aorta just after the
origin of the left subclavian artery
• True persistence of the ductus arteriosus as a
PDA present in infants older than 3 months.
Nelsons:
 Ductus remains patent when pulmonary vascular
resistance falls, aortic blood shunted into pulmonary
artery
 Extent of shunt depends on the size of the ductus and
ratio of pulmonary to systemic vascular resistance
 If PDA is small= pressure within pulmonary artery,
right ventricle, and right atrium is normal
 If PDA is large= pulmonary artery pressure may be
elevated to systemic levels during both systole and
diastole; extremely high risk for dev’t pulmonary
vascular disease if left unoperated
 Wide pulse pressure due to runoff of blood into
pulmonary artery during diastole
Dr. B: PDA: not affected by contractility of the heart (systole and
diastole) because it is outside the heart
In PDA, you will hear the murmur at the 2nd ICS over the left upper
sternal border up to the back (Dr. B: isasama ko to sa exam)
Incidence
 Estimated incidence in children born at term is between
0.02% and 0.006% of live births.
 Incidence is increased in children who are:
o Born prematurely
o Born with a history of perinatal asphyxia and
possibly children born at high altitude.
o Perinatal asphyxia usually only delays the closure of
the ductus, and, over time, the ductus typically closes
without specific therapy.
 SEX :
o The female-to-male ratio is 2:1 if not associated with
other risk factors.
o In patients in whom the PDA is associated with a
specific teratogenic exposure, such as congenital
rubella, the incidence is equal between the sexes.
 AGE:
o The ductus arteriosus is always patent in the fetus if
the cardiovascular system is otherwise normal.
o Normally, the ductus arteriosus closes functionally
in the first 10-18 hours of life.
o Prematurity, perinatal distress, and hypoxia delay
closure of the ductus arteriosus;
Pediatrics I 8 | 19
 o However, most children who are found to have a
ductus arteriosus have no history of precedent risk
factors.
Causes
• Familial cases, but a genetic cause has not been
determined.
• Several chromosomal abnormalities are associated with
persistent patency of the ductus arteriosus.
Trisomy 21 (Downs Syndrome)
• Implicated teratogens
o include congenital rubella (associated with PDA
and pulmonary artery branch stenosis),
o fetal alcohol syndrome,
o maternal amphetamine use, and
o maternal phenytoin use.
Laboratory Findings
• CXR :  PVM, cardiomegaly
• ECG : LAE, LVH
• ECHO : size of ductus and gradient; estimate PA
pressure
Natural History of PDA
 Campbell estimated the natural history mortality rates for
untreated PDA
 0.42% per year from age 2-19 years
 1.0-1.5% per year in the third decade
 2.0-2.5% per year in the fourth decade
 4% per year in persons older than 40 years.
**Currently, with the availability of antibiotics to treat
endocarditis and low-risk surgery and catheter techniques to
obliterate the PDA, the mortality rate appears to be quite low
except in the extremely premature infant
Nelsons:
 Those with large PDA= result in heart failure similar to
those with large VSD
 Retardation of physical growth – may be a major
manifestation in infants with large shunts
 Physical signs (large PDA)
 Bounding peripheral arterial pulses
SECTION B UERMMMC Class 2014
 Heart moderately or grossly enlarged
 Apical impulse is prominent; with cardiac
enlargement is heaving
nd
 Thrill, maximal in the 2 left interspace is
often present -> may radiate toward the left
clavicle, down the LSB or toward apex
 CLASSIC continuous murmur-> like
machinery or rolling thunder in quality -> may
begin soon after onset of S1, reaches
maximal intensity at the end of systole,
wanes in late diastole; localized in the 2
nd
left ICS or radiate down to the LSB or left
clavicle
Treatment
 Medical treatment: Indomethacin closure
o Spontaneous closure and treat CHF
o For symptomatic premature babies with signs of failure
but maybe effective if given at 10-14 days of life
 Surgical closure standard treatment for a large PDA that
needs to be closed in infancy
 PDA Transcatheter closure/ amplatz closure- standard
st
treatment for PDA that needs to be closed after 1 birthday
o For lesions less than 2.5-3 mm
o Check for residuals since it may cause infective
endocarditis in the future
o Not that popular here in the Philippines due to its price
o Advantages: less scar, faster healing, minimally invasive,
shorter hospital stay, less morbidity
 Uncorrected PDA has a risk for acquiring infective
endocarditis
ATRIAL SEPTAL DEFECT
• Persistent communication between the RA and LA
• 7% of CHD
• Can occur anywhere in the atrial septum (secundum,
primum, or sinus venosus)
• US: Research indicates that CHD is diagnosed in 0.8% of
children in the first year of life.
• ASD occurs in about 1 in 1500 live births, or approximately
7% of these children with CHD.
• Most common CHD in adults - 15-30% of healthy adults
due to an unfused foramen ovale in which the valve
functions normally but has failed to fuse.
• Female to male ratio – 2:1
Dr. B: Murmur barely audible in ASD or it may be undetected because
of the low pressure in this area
The murmur in ASD in not due to the shunt but because of the high
flow of blood going to the RV best heard in left upper sternal border
ASD: only CHD that can cause RV enlargement
Pediatrics I 9 | 19
 Pathophysiology
 Cardiac tissues are first detectable on the 18th or 19th day
of fetal life. Cardiac development continues for the next
several weeks.
 The atrial septum begins to form during the fourth week and
is complete by the end of the fifth week.
Nelsons:
 Symptoms are related to structure of the RV in
early life when muscular wall is thick and less
compliant, limiting L to R shunt. ; as infants
become older, RV becomes thinner, and shunt
across ASD increases -> results in RA and RV 3. Sinus venosus Defect
enlargement and dilatation of pulmonary artery  This ASD is found in the posterior aspect of the septum
 Pulmonary arterial pressure – usually normal near the SVC (where it may coexist with partial
because of absence of high pressure anomalous pulmonary venous connection of the right
communication bet.pulmo and systemic circ,. upper pulmonary vein) or the IVC (where it may coexist
Types with partial anomalous pulmonary venous defect of the
1. Ostium Secundum Defect right lower pulmonary vein)
 The most common (In adults) yet least serious type
 Late manifestations
 At first undetected. That is, until they develop pulmonary
hypertension. That’s why this is the most common
congenital heart disease of adult life.
 This defect occurs in the area of the fossa ovalis and
presumably results from:
 Excessive fenestration or resorption of septum
primum
 Underdevelopment of septum secundum
 Some combination of the 2 conditions
 Highest incidence of spontaneous closure because
it 
is near the PFO
4. Coronary Sinus Septal Defect
 (Nelson’s) – most often asymptomatic  Least common type of ASD
 may reveal a mild left precordial bulge
 Also an unroofed coronary sinus: A portion of the roof of
 right ventricular systolic lift generally
the coronary sinus is missing; therefore, blood can be
palpable at the LSB
nd shunted from the left atrium into the coronary sinus and
 2 heart sound- widely split and fixed in its
subsequently into the right atrium.
splitting in all phases of respiration
 This type is often associated with a left SVC.
 Right ventricular diastolic volume- constantly
increased and ejection time is prolonged
throughout all phases of respiration

Dr. B: Most common ASD which closes spontaneously: Ostium

Secundum Defect
Most common ASD associated with partial anomalous pulmonary
venous return: Sinus Venosus
Hemodynamics
2. Ostium Primum Defect  Clinical effects of isolated ASDs are usually related to left-
 Defect at the inferior area of the atrial septum to- right shunting. The magnitude of shunt is related to:
 Presumably results from failure of the  The size of the defect in the septum

endocardialcushions to close the ostium primum.  The relative compliance of the left-sided and right-
 Because endocardial cushions also form the mitral sidedcardiac chambers
andtricuspid valves, ostium primum defects are  Indirectly related to the resistance of the pulmonary
virtually always associated with a cleft in the anterior andsystemic circulations.
mitral valve leaflet  Small septal defectlittle left-to-right shunting
 Close by surgery only  Most defects that cause murmurs or symptoms are
 Can have early manifestations moderately large to large, and the size of the defect does
little to limit left- to-right shunting.

SECTION B UERMMMC Class 2014 Pediatrics I 10 | 19

  Approximately 15% of ostium secundum ASDs
spontaneously close by 4 years of age
 The only CHD that produces fixed splitting of the 2nd heart
sound
 A pure flow murmur is produced by the large volume of
blood from the RV to the Pulmonary Artery causing a
systolic ejection murmur at the LUSB
Causes
• many cases of ASD are sporadic but may be clearly has a
genetic component and may be associated with genetic
syndromes.
• Ostium secundum ASD is typically a part of the Holt-Oram
syndrome, which is caused by mutations in the T-box
transcription factor TBX5. This autosomal dominant disease
also includes absent or hypoplastic radii and first-degree
heart block.
• Ostium secundum, ostium primum ASD, or both may occur
alone or with other lesions as part of other genetic syndromes,
such as trisomy 21 (Down syndrome). For unknown reasons,
sinus venosus defects are rare in Down syndrome, making
common atrium similarly rare in this population.
• An autosomal dominant form of familial ASDs with incomplete
penetrance has been detected.
• Mutations in GATA4, an important regulator of cardiac
development have been associated with ASDs.
• ASDs are found in children with fetal alcohol syndrome.
Definitive Therapy
 Has historically been limited to surgical closure
 Transcatheter techniques (for ASD secundum only)
 Not all children with an ASD are candidates for surgery. It is
indicated only for those children with clinically significant left-
to-right shunting.
 A pulmonary-to-systemic flow ratio of 1.5:1 or more
is considered the principal indication for surgical repair.
 Because cardiac catheterization is rarely necessary,
echocardiographic evidence of right atrial and right
ventricular enlargement is usually considered evidence
of a clinically significant left-to-right shunt and an
indication for surgical closure of the ASD
Nelsons:
st
 Timing for elective closure usually after 1 yr and
before entry into school
Dr. B: Diagnostic criteria for ASD: Fixed Splitting of S2 (extra blood
return during inspiration gets equalized between the left and right
atrium due to the communication that exists between the atria in
individuals with ASD)
ATRIOVENTRICULAR SEPTAL DEFECT (AV
CANAL)
• terms endocardial cushion defect (ECD),
atrioventricular (AV) septal defect (AVSD), and
common AV canal (CAVC) defect are interchangeable
SECTION B UERMMMC Class 2014
• defects in the formation of the AV valves, the anterior
portion of the atrial septum, and the posterior portion
of the ventricular septum. Endocardial cushions are
masses of mesenchymal tissue that form components
of the AV valves, atrial septum, and ventricular
septum
• TYPES: :
o INCOMPLETE : which is also called partial (eg,
ostium primum atrial septal defect with cleft
mitral valve),
o TRANSITIONAL: (eg, large ostium primum
defect and small inlet or posterior ventricular
septal defect [VSD]) to
o COMPLETE (eg, large ostium primum atrial
septal defect, large-inlet VSD, common AV
valve).
o Depending on the size of the ventricular septal
communication and the competence of the AV
valve or AV valves, patients with AV canal (AVC)
defects may become symptomatic early in life or
may remain relatively asymptomatic until young
adulthood. This article focuses on the most
severe end of the spectrum, or the CAVC defect.
Incidence
 Fetal echocardiographers report that 17% of kids w/
cardiac defects identified in utero have some form of AVC
defect.
 Occurrence of any form of AVC defect is ~ 0.19 cases per
1000 live births. Complete form of CAVC is more common
than the incomplete (partial) or transitional; M=F
 Freeman et al (1998) reported a prevalence of 9.6 cases
of Down syndrome per 10,000 live births.
 CHD is present in 44% of affected infants, and AVC
defects are present in 45% of infants with Trisomy 21 &
CHD
 The male-to-female ratio for the complete form of AVC is
1:1
Dr. B: AVSD: lesion which is commonly related to Down Syndrome
Pathophysiology
• Manifestation depends on :
– magnitude of blood flow through the VSD and
– the amount of AV-valve regurgitation.
• Patients with little AV-valve regurgitation and high
pulmonary vascular resistance (PVR)
Pediatrics I 11 | 19
 – asymptomatic early in life, and their condition
may be difficult to diagnose.
– occasionally remain relatively asymptomatic until
their second or third decade, when they develop
increasing cyanosis from advanced pulmonary
vascular disease.
– If the PVR decreases normally in the first 6
weeks of life, patients develop a large left-to-right
shunt through both the atrial and ventricular
defects, resulting in congestive heart failure
(CHF).
– Patients with clinically significant AV-valve
regurgitation may also have signs of CHF, such
as tachypnea, excessive sweating, and failure to
appropriately gain weight.
AVSD- PARTIAL/INCOMPLETE

AVSD- Complete AV canal type with single atrioventricular

valve (ASD primum, VSD large)

PSM: Past Systolic Murmur; LLSB: Left Lower Sternal Border; SEM:
Systolic Ejection Murmur; LUSB: Left Upper Sternal Border; MR: Mitral
Regurgitation;PVM: Pulmonary Vascular Markings; LVH: LV
hypertrophy; BVH: Biventricular Hypertrophy

Treatment
 Unless symptoms are dramatically relived, medical
treatment for children with symptoms of CHF is not
pursued for more than a few weeks before definitive repair Dr. B: All can have a murmur except AVSD; if it’s very large, you can
because of known mortality of 5% if done at 2-3 months hear its murmur from an associated mitral valve disease
ASD is not associated with Infective Endocarditis because blood
old
will flow in a low- flow system
 Operate on the patient as early as 6 months- 9 months of For VSD, 80-90% will close by the 1st year of life if it is
age otherwise they die of early pulmonary hypertension PERIMEMBRANOUS TYPE
 Treatment for a complete AVC defect is surgical:
o Single Stage closure Normal/ decreased PBF
o PA banding before surgical patch closure Regurgutant Valvular Obstructive Valvular
lesions Lesions
L-R shunts SUMMARY Mitral Regurgitation Pulmonary Stenosis
Aortic Regurgitation Aortic Stenosis/COA
Mitral Stenosis

OBSTRUCTIVE LESIONS
• Factors determining significance:
o Anatomic location-Influence the clinical

SECTION B UERMMMC Class 2014 Pediatrics I 12 | 19

 manifestations
o Magnitude of the lesion
o Age of the patient
o Impairment of myocardial contractility
• Pathophysiologic changes produced are:
o Systolic ejection murmur-Intensity and
duration of the murmur and severity of the
stenosis
o Hypertrophy of the ventricle involved severe
cases-ventricle that pumps against the
obstruction hypertrophies
 PS  RVH
 AS  LVH
o .Poststenotic dilatation - hallmark of an
obstruction at the valvular level
Dr. B: Obstruction to flow on the RV: Pulmonic Stenosis
Obstruction to flow on the LV: Aortic Stenosis
In Pulmonic Stenosis, the dominant ventricle is the RV
Most children will have heart failure from RV Stenosis if they are not
corrected
AORTIC STENOSIS
• results from minor to severe degrees of aortic valve
maldevelopment
• accounts for 3-5% of all congenital heart defects
• Mortality in part influenced by associated congenital
cardiac anomalies, which occur in as many as 20% of
patients.
– These include patent ductus arteriosus,
coarctation of aorta, ventricular septal defect,
mitral valve abnormalities, and left ventricular
hypoplasia.
• Undetected, severe aortic valve stenosis is a known
cause of sudden death and accounts for approximately
1% of all causes of sudden death in young people.
• strong male sex predilection: the male-to-female ratio is
4:1.
• Neonatal aortic valve stenosis
– Neonatal aortic valve stenosis sometimes
presents as congestive heart failure in the first
week of life.
– These patients may have left the hospital
initially stable, with a patent ductus arteriosus.
Once the ductus arteriosus begins to close,
clinical signs of heart failure occur that mimic
sepsis, and a cardiac murmur may be
unimpressive in the setting of low cardiac
output. There may also be significant mitral
SECTION B UERMMMC Class 2014
valve insufficiency that adds to the congestive
heart failure symptoms.
– Patients with this presentation often require
emergency resuscitation and possibly the
administration of prostaglandin E1, if the
patient presents within the first 24-48 hours of
age, to reestablish adequate systemic blood
flow.
• OLDER CHILDREN VALVAR STENOSIS:
– often present with a systolic murmur as the
first sign of aortic valve stenosis.
– These children usually are asymptomatic and
have a systolic murmur detected during a
sports physical or at a preschool entrance
examination. If symptoms occur, a sense of
easy fatigability may be reported.
– A history of syncope or anginal-type chest pain
related to exertion should prompt an
immediate evaluation and intervention by a
pediatric cardiologist.
• Adolescent/Adult Vulvar Stenosis
o is similar to that seen in children, although
older patients are more likely to have aortic
valve insufficiency.
o A systolic ejection click is sometimes less
noticeable with associated calcification of the
aortic valve, which results in diminished
valve excursion.
o Maneuvers to improve auscultation include
having larger patients lean forward or
assume the left lateral decubitus position.
Having the patient squat may accentuate
murmur of aortic insufficiency.
Causes
 Multifactorial
 The recurrence risk in offspring of an affected father is
approximately 3%, but it is approximately 15% in offspring
of an affected mother.
 Abnormal fetal hemodynamics are theorized to contribute
to 
development of aortic valve stenosis. Similarly, other
forms of left heart obstructive disease may occur
repeatedly within families (eg, hypoplastic left heart
syndrome in a child whose older sibling had coarctation of
the aorta).
 A definite genetic defect for aortic valve stenosis has not
been identified, but the presence of a bicuspid aortic
valvehas been documented in multiple family members.
Dr. B: Most common chromosomal abnormality associated with Aortic
Stenosis is William Syndrome
PE and Laboratory Findings
PE
• normal or a bit narrow S2-paradoxically split S2 (severe AS)
• systolic ejection murmur over 2nd ICS -RPSB radiring to
both sides of the neck
Laboratory Findings
• CXR : normal heart size, prominent aortic knob
• ECG : mild cases - normal; severe cases - LVH with strain
• 2D ECHO : bicuspid aortic valve, thick aortic valve, discrete
subaortic membrane
Dr. B: AORTIC STENOSIS: only defect with murmur radiating to both
sides of the neck (give away exam question acc. to Dr. B)
PULMONIC STENOSIS murmur radiates to the back (another give
away question)
Pediatrics I 13 | 19
 • . It may occur in as many as 50% of all patients with
• Sex: The male-to-female ratio is 1:1.
Treatment
• Aortic Balloon valvuloplasty
• Surgical aortic Valvotomy
• Surgical Aortic valve replacement
Dr. B: Most common cause of an abnormal aortic valve: Bicuspid
Aortic Valve (normally, aortic valve has three leaflets)
PULMONIC STENOSIS
 8 - 12% of all CHD
 Valvar, subvalvar or supravalvar
 History :Mild cases : asymptomatic
Moderate : exertional dyspnea ,easy fatigability
Types
 May be valvar, supravalvar, or subvalvar (infundibular or
mid cavity, ie, double-chamber right ventricle)
 It may also be in the branch pulmonary arteries.
 These lesions are collectively associated with obstruction
of the right ventricular outflow tract.
Incidence
• represents 8-12% of all congenital heart defects in
children.
• In adults, the prevalence about 15% of all congenital
heart defects.
• Isolated valvar pulmonary stenosis with an intact
ventricular septum is the second most common congenital
cardiac defect in children
SECTION B UERMMMC Class 2014
congenital heart disease associated with other congenital
cardiac lesions.
Clinical Findings of Severity
 The severity of the obstruction of the pulmonary valve
depends on auscultatory findings.
o The timing of the ejection click
o The extent of splitting of the second heart sound
o The intensity of the pulmonary component of the
second sound
o The duration of the systolic murmur
o The timing of the peaking of the ejection murmur
usuallyindicate the severity of pulmonary valve
stenosis
 MILD OR TRIVIAL PS:
o the click is clearly separated from the first heart sound.
o Almost normal splitting of the second heart sound
o An ejection systolic, diamond-shaped murmur that
peaks early in systole and that ends much before the
aortic component of the second heart sound is
appreciated.
 MODERATE PV STENOSIS:
o are an ejection systolic click that is closer to the first
heart sound than it is in mild forms,
o a widely split second sound with a diminished
pulmonary component,
o and an ejection systolic murmur that peaks in mid-to-
late systole and that ends just before the aortic
component of the second heart sound
• SEVERE PULMONARY STENOSIS:
o ausculatory features are an ejection systolic click that
is absent or that occurs so close to the first heart
sound that it becomes inseparable from it,
o markedly increased splitting with a soft or inaudible
pulmonary component of the second heart sound,
o and a long ejection systolic murmur that peaks late in
systole and that extends beyond the aortic component
of the second heart sound so that the latter cannot be
heard.
LABORATORY FINDINGS
 CXR: normal PVM, prominent main PA, cardiomegaly (if R-
sided CHF develops)
 ECG: normal in mild cases; RAD, RVH – moderate/severe
 2D- ECHO: Thick PV with restricted motion, dilated main
PA
Pediatrics I 14 | 19

Treatment
TRIVIAL PS : (gradient <25 mm Hg) or
MILD PS : (gradient <50 mm Hg) - do not need intervention to
relieve the obstruction of the pulmonary valve.
MODERATE PS (gradient 50-79 mm Hg) and
SEVERE PS (gradient >80 mm Hg) -should undergo
intervention to relieve the stenosis of the pulmonary valve.
- After the obstruction is relieved, recommended
routine care, endocarditis prophylaxis, and exercise limitations
are the same as those described for trivial and mild stenosis.
 Medical Treatment: Percutaneous Pulmonary Balloon
Valvuloplasty (PPBV) – done to alleviate obstruction at the
pulmonary valve if there is critical valvar pulmonary
stenosis with R-L shunting across a PFO
 Patients with signs of right ventricular failure
o should be promptly treated with anticongestive
measures, including digitalis and diuretics.
o However, the problem does not resolve until the
obstruction is relieved.
o Right ventricular function may not recover
completely if intervention is withheld for too long
and if myocardial damage sets in.
APPROACH TO CYANOTIC HEART DISEASES
If confronted with a Neonate, an Infant, or a Child with
Cyanosis, one must:
-Assess
 Extent of cyanosis
o Pseudocyanosis : Bluish tinge to the skin and/or mucus
membrane that is not associated with either hypoxemia
or peripheral vasoconstriction
o Peripheral Cyanosis: Accompanied by a bluish
discoloration of the skin caused by increased arterial-
venous O2 differences with normal arterial saturation;
cyanosis improves with crying; normal arterial O2
saturation; actual cyanosis of the newborn
Causes:
 Vasomotor instability
 Capillary stasis or venous pooling
 Hematologic- polycythemia; hyperviscosity
 Harlequin color changes
 Increased Deoxygenation in capillaries
 Circulatory shock
 CHF
 Acrocyanosis in the Newborn
o Central Cyanosis: Cyanosis involving the lips, tongue,
mucosal membrane and peripheral skin; cyanosis
exacerbated with crying; abnormal methemoglobin
Causes:
o ↓pulmonary or alveolar ventilation with impaired O2
uptake
 CNS depression
 Inadequate respiratory drive
 Obstruction of the airway
 V/q mismatch
o ↓ perfusion, pulmonary: desaturated blood bypassing
normal lung
SECTION B UERMMMC Class 2014
 R-L shunt
 Intrapulmonary shunts
 Pulmonary HPN with resulting R-L shunt
 Persistent Pulmonary HPN
o Abnormal haemoglobin: Methemoglobin > 15% of
total Hgb
Cyanotic neonate
Cyanotic child
 Presence of other signs and symptoms
o Tachycardia
o Tachypnea
o Mental status changes
o Dyspnea
o Murmur
*note: cyanosis when crying may be a manifestation of a
pulmonary disease; cyanosis in crying and in feeding may be a
manifestation of a heart problem
-Inquire
 Onset of cyanosis
o After the transitional circulation, the PDA is the most
important structure which provides circulation to the
pulmonary tree after birth
o Onset at birth is very important to know if right after the
fetal circulation, is there pulmonary blood flow or are
there 2 independent circulations
o Onset of cyanosis very important. Different diagnosis for
different age group:
o Newborn cyanosis is associated with independent
circulation like TGA, TOF, pulmonary valve atresia,
tricuspid valve atresia
o Late onset cyanosis or cyanosis of infancy – tetralogy of
fallot occurs after 2 months of age and onset of
cyanosis is due to spasm of infundibulum during crying ,
TAPVR (total anomalous pulmonary venous return)
because it depends on the overloading of the pulmonary
circulation after birth
o Cyanosis in childhood – common in patients who
develop pulmonary hypertension secondary to a
previous L-R shunt; possible triggers like among
children who have tetralogy of fallot certain conditions
will increase the spasm of the infundibulum, infxn,
anemia, change in temp, defecation
Pediatrics I 15 | 19
  Possible triggers Flowchart tells us on how to go about a patient who is
o upon birth – consider congenital cyanotic.
o After 2 or 3 weeks – consider PDA  First, confirm the cyanosis by PE. Is it central, peripheral or
o Later – consider Eisenmenger differential?
o Inquire possible triggers: infection, defecation, change in  Differential cyanosis – always cardiac; upper extremities
temperature, medications taken are more cyanotic than the lower extremities
-Consider  Reverse differential – lower extremities are more cyanotic
 Cardiac— e.g. Cyanotic Heart Disease than the upper; indicates transposition of the great arteries
 Pulmonary diseases  If it’s reverse – transposition with coarctation of the aorta
 CNS conditions  For central or peripheral cyanosis, get the blood gas at
 Methemoglobinemia room air. Normal blood gas is 96-100.
-What Should Be Done?  If <50, central cyanosis; if >50 may be peripheral cyanosis
 Confirm presence of cyanosis  If you give oxygen, what happens in central cyanosis is if
o peripheral vs. central the pO2 increases usually by 100 or above, that is usually
o If central - cardiac vs. noncardiac non-cardiac.
o How will you know if it’s cardiac? It depends on the  In children, there are more non-cardiac causes than cardiac
associated signs and symptoms (increase heart rate of causes
more than 120 in children, tachypnea, easy fatigability,  Cardiac causes of cyanosis in the newborn like: CNS
mental status changes, +/- murmur) infection, polycythemia, hypoglycemia born of diabetic
 Confirm cardiac pathology mothers, pneumonia or primary lung disease confirm by
 Institute management CXR and ECG
-Know  ECG with RV or LV predominance or LV, RV hypertrophy
 Possible complications of chronic cyanosis indicates a possible cardiac diagnosis
 Prognosis  X-ray may show decrease in pulmonary vascularity
CYANOSIS  CT ratio of more than 0.55 may indicate a possible cardiac
diagnosis plus PE of possible murmur, but murmurs are not
• Bluish tinge to the skin
always present in children who are not cyanotic
• Results from decreased oxygenation of the blood
• To be clinically apparent, at least 5 gm/dL of reduced Hgb
is present
• Most evident where epidermis is relatively thin,
pigmentation minimal and capillaries abundant (tips of
finger and toes, under the nailbeds and buccal mucosa)
Cyanosis in Children
• Clinical Cyanosis
– “blue arterial blood” to accurately describe
the color given to blood by unoxygenated
(reduced) blood
– presence of 3-5 gm of reduced hemoglobin
per deciliter of blood
– Detection may be dependent on severity
• NORMAL NEWBORN : O2 sat >
85%
• DETECTABLE CYANOSIS : O 2
sat < 70% unless
infant has a low hemoglobin
Causes and Clinical Findings of Central Cyanosis
Early Detection of Cyanosis
CAUSES FINDINGS
• Cyanosis IMPROVES when crying:
o Lung disease CNS • Shallow irreg.
o Disorders of the CNS • Perinatal
DEPRESSIO resp.
• asphyxia
Cyanosis WORSENS when crying: N • Poor muscle
o CYANOTIC CONGENITAL HEART DISEASE!! • Heavy maternal
tone
sedation
FLOWCHART FOR THE EVALUATION OF CYANOTIC • Cyanosis
INFANTS • Intrauterine fetal
disappears with
distress
O2
PULMONAR • Tachypnea,
• HMD
Y DISEASE retractions &
• Atelectasis
grunting
• Pnemothorax
• Crackles, dec
• Pleural effusion
BS
• Diaphragmatic
• CXR: cause
hernia
• Cyanosis:
• PPHN of NB
relieved by O2

SECTION B UERMMMC Class 2014 Pediatrics I 16 | 19

CARDIAC Cyanotic CHD • .Inadequate alveolar ventilation
DISEASE w/ R-L shunt • Tachypnea w/o o CNS depression
retractions o Inadequate resp drive
• (-)Crackles or o Obstruction of the airway
abnormal breath o V/q mismatch
sounds, unless • Desaturated blood bypassing N lung
CHF o R-L shunt
• (+) murmur, o Intrapulmonary shunts
PDA murmur o Pulmonary HPN with resulting R-L shunt
• CXR: o Persistent Pulm HPN
cardiomegaly,
inc/dec. PVM
• Little or no inc. Cyanotic CHD
in PO2 w/ O2 A . INCREASED PULMONARY BLOOD FLOW
administration Transposition of the Great Arteries
• Total Anomalous Pulmonary Venous Connection
Truncus Arteriosus
Cardiac Causes of Cyanosis in The Newborn TAPVR (Supradiaphragmatic)
• Independent pulmonary and systemic
Circulations
– Transposition of the Great Arteries with
Intact Septum
• Inadequate pulmonary Blood Flow
– Tricuspid Valve Atresia
– Pulmonary Valve Atresia w/ Intact Septum
– Tetralogy of Fallot
– Ebstein’s Anomaly of the Tricuspid valve
• Admixture Lesions (Moderate cyanosis)
– Total Anomalous Pulmonary Venous Return
Dr. B: Ebstein Anomaly- apical displacement of the septal and
posterior tricuspid valve leaflets, leading to atrialization of the right
ventricle with a variable degree of malformation and displacement of
the anterior leaflet TAPVR (infradiaphramatic)
No murmur in TGA unless there is a shunt

Truncus Arterious

Evaluation of the Cyanotic NB

• Confirm cyanosis :
o peripheral vs. central
o If central - cardiac vs. noncardiac
• Examine the infant : Look for key observations:
appearance. Respiration, Neurologic status
o Cardiac Examination
Causes B. DECREASED PULMONARY BLOOD FLOW:
1. Peripheral Cyanosis Tetralogy of Fallot
• Arterial O2 stauration : Normal Double Outlet Right Ventricle with PS
• Causes : Pulmonary Valve Atresia with Intact Septum
o Increased Deoxygenation in capillaries Tricuspid Valve Atresia
o Circulatory shock Ebstein’s Anomaly with PS
o CHF
o Acrocyanosis in the Newborn
2.Central Cyanosis

SECTION B UERMMMC Class 2014 Pediatrics I 17 | 19

 congenital (newborn) heart defects. Infants with this
Pulmonary atresia without VSD abnormality develop signs of the condition very early
Dr.B: No murmur in PA because there is no flow in life.
Nelsons:
 Primary defect is an anterior deviation of the
infundibular septum (muscular septum that separates
aortic and pulmonary outflows)
 Consequences of deviation
(1) Obstruction to right ventricular
outflow (pulmonary stenosis)
(2) VSD
(3) Dextroposition of the aorta with
override of the ventricular septum
(4) RVH
 Complete obstruction of RV outflow (pulmonary
atresia with VSD) – classified as extreme form of
Tricuspid Valve Atresia tetralogy of Fallot
Dr. B: Murmur in TOF is because of the increased blood flow in the
pulmonary artery and it radiates to the back
Most important characteristic: RVH
Sub-Groups
Four diagnostic subgroups of TOF are described:
• (1) TOF, absent pulmonary valve syndrome 3-5%
• (2) TOF, common atrioventricular canal (AVSD); 1%
• (3) TOF, pulmonary atresia; and 1.5%
• (4) TOF, pulmonary stenosis – most cmmon
Natural History
• The degree of cyanosis is often related to the severity
Dr. B: TVA: no flow to the RV so LV prominence of RVOTO.
Only cyanotic CHD with LVH • Infants with acyanotic TOF gradually become cyanotic
after 2months – 6 mos of age
Ebstein Anomaly • Patients who are already cyanotic become more
cyanotic than before as a result of worsening
infundibular stenosis and polycythemia.
• Polycythemia develops secondary to cyanosis.
• A relative state of iron deficiency, ie, hypochromia,
may develop. Patients require monitoring for this
condition.
• Hypoxic spells may develop in infants.
• Growth retardation may be present if cyanosis is
severe.
• Brain abscess and stroke can occur but are rare.
• Subacute bacterial endocarditis is occasionally a
Tetralogy of Fallot complication.
• Aortic regurgitation may develop in some patients,
particularly those with severe TOF.
• Coagulopathy is a late complication of a long-standing
cyanosis
Nelson:
 Cyanosis most prominent in the mucous membranes
of the lips and mouth , in fingernails and toenails
 Older children with long standing cyanosis: dusky
blue skin, gray sclera with engorged blood vessels
and marked clubbing
 Children assume a squatting position for the relief of
dyspnea caused by physical effort
 Pulse, arterial and venous pressure- normal
 Left anterior hemitrhorax may bulge anteriorly
because of RVH; heart generally normal in size and
substernal right ventricular impulse may be detected.
• Tetralogy of Fallot (TOF) is comprised of a mal-aligned
 Systolic murmur- loud and harsh, transmitted widely
ventricular septal defect
esp. in lungs but most intense at the LSB.
o anterior shift of the aorta over the VSD
(overriding aorta), TOF TET SPELL
o obstruction of the right ventricular outflow tract, • The child will be placed on his or her back in the
and right ventricular hypertrophy. Pulmonary knee-to-chest position to increase aortic resistance.
atresia (PA) with VSD is considered the extreme • The increased aortic and left ventricular pressure
end of the anatomic spectrum of TOF reduces the rush of blood through the septal hole
• Tetralogy of Fallot accounts for 10-15% of all from the right ventricle and improves blood circulation

SECTION B UERMMMC Class 2014 Pediatrics I 18 | 19

 to the lungs, so more red blood reaches the tissues.
• The child may be given oxygen through a face mask
to increase the amount of oxygen in the blood.
• The child may be given morphine, propranolol (or
metoprolol), or, in extreme cases, phenylephrine
(Alconefrin, Vicks Sinex). These medications
decrease the frequency and severity of tet spells.
Nelson:
 Also called paroxysmal hypercyanotic attacks; a
st
problem during the 1 2 yrs of life
 Infant becomes hyperpneic and restless, cyanosis
increases, gasping respirations ensue and syncope
may follow
 Occur most frequently in the morning on initially
awakening or after vigorous crying
 Episodes followed by generalized weakness and
sleep, may progress to unconsciousness
Medical Treatment
• In the cyanotic patient, conservative management
includes the following:
• Knee-to-chest positioning
• Administration of supplemental oxygen
• Sedation
• Volume expansion
• Correction of anemia, if present
• Additional measures that increase cardiac preload
and systemic vascular resistance
• Beta-blockade to decrease infundibular spasm
Surgical Treatment
• Mainstay of treatment
– Blalock Taussig shunt
– Total correction : VSD patch closure
– RVOT repair
 Systemic veins return normally to the RA and the
pulmonary veins return to the left atrium
 Connections bet. atria and ventricles are also normal
 Aorta arises from RV and pulmonary artery from LV
 Normal: aorta is posterior and to the right of the
pulmonary artery; in d-TGA, aorta is anterior and right
of the pulmonary artery (d- dextropositioned)
 Desaturated blood returning from the body to the R
side goes inappropriately out of the oarta and back to
body again, whereas oxygenated pulmonary venous
blood returning to the Lside is returned directly to the
Lungs
 Systemic and pulmonary circulation consist of 2
parallel circuits
 Survival in newborns provided by foramen ovale and
ductus arteriosus
 Clinical findings and hemodynamic vary in the
presence or absence of associated defects; can be:
TGA with intact VS, TGA with VSD, can be L-TGA
(corrected transposition), TGA with VSD and
pulmonary stenosis.
 If TGA with INTACT VS- condition is a medical
emergency, cyanosis and tachypnea recognized
st
within 1 hrs of lie and vast majority would not survive
neonatal period without treatment; HYPOXEMIA is
severe, S2- usually single and loud, and murmurs
may be absent
 IF TGA is with large VSD- clinical manifestations of
cardiac failure seen, murmur is holosystolic and
indistinguishable from those with large VSD with
normal related arteries
 In L-TGA, RA connected to LV, and LA to RV, great
arteries also transposed- aorta arise from RV and PA
from the left. ; aorta arises to the left of the PA (l-
levotransposition); double inversion of the AV and VA
relationship results in desaturated RA blood reaching
lungs and oxygenated PV blood appropriately flowing
to the aorta. ; circulation is physiologically “corrected”

Transers: Mamaril, Palileo and Prieto

NOTE: Sorry for the super long trans  ang daming slides ng
ppt and notes. Info from the book are only on ASD, VSD, PDA,
TOF and TGA na sinabi ni dra. na main diseases to focus and
read on :| Good luck!

References: Lecture Powerpoint, Recordings, Nelson Textbook

of Pediatrics, 2013B Trans

Not included in the PPT but Dra. Balderas said to read on the
book (Nelson):
Transposition of the Great Arteries

SECTION B UERMMMC Class 2014 Pediatrics I 19 | 19