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CONGENITAL HEART

DISEASE
 CHDs are the most common form of birth defects
and the leading cause of death from birth
anomalities in the first year of life.
 Affect approximately 8 of 1000 live births.
 Minimal clinical consequences >> severe and
require immediate medical attention.
 May be inapparent for weeks, months, or years.
 Cause: genetic mutations, environmental factors,
toxins, or maternal illness.

Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.


Etiology of CHD

GENETIC ENVIROMENTAL
Syndromes:
Maternal rubella
Noonan, Leopard,
(PDA, PV, ASD)
Ellis van Creveld,
Thalidomide and Isotretinoin
Kartagener, Alcapa,
(cardiac malformation)
Alagille, DiGeorge, Down,
Lithium
Scimitar, Holt-Oram,
(TV)
Turner, William,
Maternal alcohol abuse
Shone complex
(VSD)

Braunwald. Heart Disease. Congenital Heart Disease. 2008.


Development of the Heart
 Formation of cardiovascular system begins
during the 3rd week of embryonic development.
 From mesodermal cells.
 Forming endocardial tube by day 22.
 The primitive heart begins to beat by day 22-23.
 Blood circulation by the beginning of 4th week.
 The connection between primitive atrium and
ventricle >> AV canal >> 2 separate canals (TV
and MV).

Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.


 Truncus arteriosus >> Aorta, A. pulmonalis
 Bulbus cordis >> Outlet of Ventricle
 Primitive ventricle >> Inlet of Ventricle
 Primitive atrium >> RA and LA
 Sinus venosus >> part of RA
Septation
 Septation occurs between 4th and 6th week.
C
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Congenital Heart Diseases

Acyanotic Cyanotic

Normal Flow Plethora Oligemia Plethora

LVH RVH LVH RVH LVH LVH RVH


RVH

CoA, VSD, PTA,


TA, Single
MR PDA, Pulmonary Ventr,
ECD Atresia w/
TGA+
Hypoplastic
PS, ASD, RV VSD
TOF,
MS, PAPVR,
PVOD TGA,
CoA (infant) PVOD
TAPVR,
HLHS
 PAPVR = Partial Anomalous Pulmonary Venous
Return
 PVOD = Pulmonary Vascular Obstructive
Disease
 ECD = Endocardial Cushion Defect
 PTA = Persistent Truncus Arteriosus
 TA = Tricuspid Atresia
 HLHS = Hypoplastic Left Heart Syndrome
 TAVPR = Total Anomalous Pulmonary Venous
Return
Atrial Septal Defect
 ASD is a persistent opening in the inter-atrial
septum after birth that allows direct communication
between RA and LA.
 10% of CHD.
 Male : Female = 1 : 2
 Keywords:
- Acyanotic
- Plethora
- Shunt in the atrium
Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.
Types of ASD

 Secundum defect (50-70%)


 the site of fossa ovalis
 Primum defect (15-30%)
 associated with other
endocardial cushion defects
 Sinus Venosus (10%)
 2 type (superior and inferior
vena caval type)
 large, associated with
anomalous pulmonary venous
drainage
 Coronary sinus (rare)
 associated with unroofed
coronary sinus
Symptom
 Most ASDs are asymptomatic
 DOE
 Fatigue
 Recurrent lower RTI
 Palpitation due to atrial tachyarrythmias
Physical Examination
 RV heaving
 Fixed splitting S2
 Systolic murmur at upper LSB
 Middiastolic murmur at lower LSB
Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.
Diagnostic Studies
 Chest radiographs (RAH, RVH, Prominent PA
with increased pulmonary vascular)
 ECG (RVH, RAH, RBBB)
 Echo (RVH, RAH, ASD)
 Cardiac Catheterization to confirm ASD, assess
pulmonary vascular resistance, and diagnose
concurrent CAD in adult (02 sat in RA >> SVC)
Treatment
 If the volume is large, elective surgical repair is
recommended to prevent HF or PVD
 Percutaneous ASD repair is a less invasive
alternative to surgery
HF :heart failure
PH : Plumonary hipertension •Clinical
PVD : Pulmonary Vascular Diseases
•EKG
ASO tidak dapat dilakukan pada bayi < 8 Kg
ASD •CXR
•Echo

Small Shunt Big Shunt

Observe Baby Adolescent


Adult
HF (-) HF (+)
Evaluate PH (-) PH (+)
5-8 yo Medical th/
Elective
> 1 yo
Failed Controlled PVD (-) PVD (+)
Cath Immediately
> 1 yo
Cath

Elective
FR < 1.5 FR > 1.5 Reactive Non reactive

Conservative Ligation or Amplatzer Septal Occluder Conservative


Ventricular Septal Defect
 VSD is an abnormal opening in the inter-
ventricular septum.
 25% of CHD.
 Types of VSD:
- Perimembraneous (70%)
- Inlet (5-8%)
- Outlet / infundibular (5-7%)
- Muscular defect (5-20%)
marginal, central, or apical
Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.
 Keywords:
- Acyanotic
- Plethora
- Shunt in the ventricle
Symptom
 If small >> VSDs remain asymptomatic
 If large >> CHF (tachypnea, FD, FTT, frequent
lower RTI)
 VSD + PVD + reversed shunt >> dyspnea,
cyanosis
 Baterial endocarditis
Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.
Clinical Manifestations
A. Small VSD
• Asymptomatic
• Holosystolic murmur
shunt L to R
• ECG: normal

B. Moderate VSD
• FTT, repeated pulmonary infection
• Holosystolic murmur
• Early diastolic murmur
>>> flow through mitral valve
• ECG: LVH, LAH
C. Large VSD : PVR < SVR
• FTT, repeated pulmonary infection,
CHF
• Loud S2 (P2)
• Ejection systolic murmur
>>> flow through out from RV
• ECG: LVH + RVH, LAH
X-ray:
D. large VSD : PVR > SVR
Cardiomegaly of varying degrees
• + cyanosis
Pulmonary Vascular marking increase
• Loud S2 (P2)
• Murmur (-)
Echocardiography
shunt (-)
• ECG: RVH only
Physical examination
 RV heaving
 Wide splitting S2, accentuated P2
 Harsh holosystolic murmur at LSB
 Small defect >> louder murmur >> great
turbulence
 Systolic thrill at LSB
 Middiastolic rumble at apex
 If PVD, murmur diminishes and cyanosis may be
present

Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.


Diagnostic Studies
 Chest radiographs (LAH, LVH, RVH, Prominent
PA with increased pulmonary vascular)
 ECG (LAH, LVH, RVH)
 Echo (LAH, LVH, RVH, VSD)
 Cardiac Catheterization (02 sat in RV >> RA)
Treatment
 By age 2 at least 50% small and moderate VSDs
undergo partial or complete spontaneous closure
 Surgical is recommended in first few months for
CHF or PVD children, if no PVD, can be corrected
later
 Endocarditis prophylaxis
HF :heart failure •Clinical
PH : Plumonary hipertension
PVD : Pulmonary Vascular Diseases
Reactive : PARI < 8 u/m2
VSD •EKG
•CXR
•Echo
Cath
PARI & FR
RV : infundibular
LV : VSD type
Ao : prolaps

HF (+) HF (-)
Medical th/

Failed Controlled Natural History

Prolaps Stenosis Pulmonal Closed


Ao valve Infundibulum Hypertension Smaller
Spontaneously

PAB PVD (-) PVD (+)


If weight
< 3kg Cath
Cath
5 yo
Cath
Evaluate FR < 1.5 FR > 1.5
Reactive Non reactive
6 mo
Conservative

VSD Closure
Atrioventricular Septal Defect
 previously known as common atrioventricular canal
(CAVC) or endocardial cushion defect, is
characterized by a deficiency of the atrioventricular
septum of the heart.
 Divided into:
- Partial : defect in the primum or inferior part of the
atrial septum but no direct intraventricular communication
(ostium primum defect).
- Complete : common AV valve, ASD primum, muscular
type VSD >> the atriums join the ventricles.
AVSD
Associated conditions
 This type of congenital heart defect is associated
with patients with Down syndrome (trisomy 21)
or heterotaxy syndromes.
 45% of children with Down syndrome have CHD.
Of these, 35-40% have AVSD.
Symptom
 Recurrent lower RTI
 CHF (dyspnea)
 FD
 FTT
Physical examination
 Wide splitting S2, accentuated P2
 Holosystolic murmur at LSB (VSD)
 Holosystolic murmur at apex (AV regurgitation)
 Middiastolic murmur at apex
 CHF
Diagnostic studies
 Chest radiographs (RAH, LVH, RVH, Prominent
PA with increased pulmonary vascular)
 ECG (RAH, LVH, RAH)
 Echo (RAH, LVH, RAH, ASD, VSD)
 Cardiac Catheterization
Treatment
 Treatment is surgical and involves closure of the
atrial and ventricular septal defects and
restoration of a competent left AV valve as far as
is possible.
 Percutaneous endovascular procedures are less
invasive and can be done on a beating heart,
but are only suitable for certain patients.
 Infants born with AVSD are generally in
sufficient health to not require immediate
corrective surgery.
 If surgery is not required immediately after birth,
the newborn will be closely monitored for the
next several months, and the operation held-off
until the first signs of lung distress or heart
failure. This gives the infant time to grow,
increasing the size of, and thereby the ease of
operation on, the heart, as well as the ease of
recovery.
 Infants will generally require surgery within three
to six months, however, they may be able to go
up to two years before the operation becomes
necessary, depending on the severity of the
defect.
Patent Ductus Arteriosus
 Ductus arteriosus fails to close after birth.
 Connection between great vessels.
 12% of CHD.
 Keywords:
- Acyanotic
- Plethora
- Shunt between PA and Descending Aorta

Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.


Symptom
 Small PDA >> asymptomatic
 Large PDA >> CHF (tachycardia, FD, FTT)
 Recurrent lower RTI
 Fatigue, dyspnea, palpitation (AF)
 Endarteritis
Physical examination
 Continuous, machine-like murmur at left subclavian
region
 If PVD, diastolic component of murmur disappear
 Eissenmenger >> lower extremity cyanosis
Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.
Diagnostic studies
 Chest radiographs (LAH, LVH, Prominent PA
with increased pulmonary vascular, calcification
of the ductus)
 ECG (LAH, LVH)
 Echo (LAH, LVH, PDA)
 Cardiac Catheterization (02 sat in PA >> RV)
Treatment
 Spontaneous closure during 1st month (rare)
 In the absence of other CHD >> should be
occluded (surgical or ligation)
 For neonatus and premature with CHF >>
prostaglandin synthesis inhibitor (indomethacin)
HF :heart failure
PH : Plumonary hipertension
•Clinical
•EKG
Indomethacin
0,2 mg/kgbb 3x interval 12 hour PDA •CXR
•Echo

Neonate/Baby Adolescent/Adult

HF (+) HF (-) PH (-) PH (+)

Premature Mature Elective After


L→R L↔R
<10days
>12 weeks
Medical th/ Medical th/ Cath
+
Indomethacin
Controlled Failed Non
reactive
reactive
Controlled Failed Elective After
>12 weeks

Closed
spontaneously Ligation or Amplatzer Ductal Occluder Conservative
Tetralogy of Fallot
 Results from an abnormal anterior and cephalad
displacement of the infundibular portion of IVS.
 10% of CHD.
 Anomalies:
- VSD perimembraneous
- Subvalvular PS
- Overridding aorta
- RVH
- If ASD or PFO present >> Pentalogy of Fallot
Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.
 Keywords:
- Cyanotic
- Oligemia
- Shunt in the ventricle
 By age 4, 75% of cyanotic CHD is TOF.
Symptom
 DOE
 Spells (irritability, cyanosis, hyperventilation,
syncope or convulsion)
 Squatting

Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.


Physical examination
 Cyanosis (lips, mucous membrane, digits)
 Clubbing fingers
 RV heaving
 Single S2, soft or inaudible P2
 Systolic ejection murmur at upper LSB (PS)
 Murmur of VSD usually inaudible >> large VSD
Diagnostic studies
 Chest radiographs (RVH, decreased PA and
pulmonary vascular) >> boot-shaped heart
 ECG (RVH, RAD)
 Echo (RVH, VSD, PS)
 Cardiac Catheterization
Treatment
 Spells >> knee chest position, O2, propranolol
(0.02-0.1 mg/kg), morphine (0.1-0.2 mg/kg)
 Digitalis >> only for severe HF
 Need palliative therapy before definitive surgery:
- Blalock-Taussig anastomosis (subclavian artery to PA)
- Pott anastomosis (Descending aorta to left PA)
- Waterston anastomosis (Ascending aorta to right PA)
 Elective repair is usually recommended at 1 year
 Antibiotic prophylaxis for endocarditis

Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.


BTS : Blalock Taussig Shunt
Propanolol 0,5-1,5 mg/kg/dose 3-4x
•Clinical Cath
CI : asthma
TOF •EKG
•CXR
•Echo
– PA confluence/size
– Anomaly coroner
– MAPCA
Criteria for Operation
– Good PA size
– Good LV function Spell :
– O2 100%
< 1 yo > 1 yo – Knee Chest Position
– Mo 0,1 mg/kgbb
– Diazepam 0,1 mg/kgbb
Spell (+) Spell (-) – BicNat 3-5 meq/kgbb
– Propanolol 0,02-0,1 mg/kg
– Fenilefrine
PROPANOLOL Cath Cath CI 2-5 mg/kgbb/mt
PA/RV graphy
IV 0,02 mg/kg
IM 0,1 mg/kg
Failed Controlled if not controlled
Ventilation
Small PA Good size PA BT Shunt,sat <30
BTS

evaluate 6 mo
Cath BTS
PA/RV graphy

TOTAL CORRECTION OPERATION


Coarctatio Aorta
 A discrete narrowing of the aortic lumen.
 6% of CHD.
 Male : Female = 2 : 1
 Often occurs in Turner syndrome
 Types of CoA:
- Preductal (2%)
- Postductal (98%)

Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.


Symptom
 Patient with preductal and severe postductal
present very shortly HF
 If ductus arteriosus remains open >> differential
cyanosis
 Endarteritis
Physical examination
 Femoral pulses weak and delayed
 Elevated BP of upper body than lower body
(suspect if >15-20 mmHg)
 Oliguria
 Midsystolic ejection murmur over chest or back
 Continuous murmur over chest in adult
Diagnosis studies
 Chest radiographs (notching of inferior surface of
posterior ribs, LVH)
 ECG (LVH)
 Echo (LVH, CoA, assess pressure gradient)
 MRI (length and severity of CoA)
 Cardiac Catheterization (rare)
Treatment
 Severe >> prostaglandin infusion (keep PDA)
 Elective repair to prevent systemic hypertension
 For older children or adults >> transcatheter
interventions (balloon dilatation + stent)
 Antibiotic to prevent endarteritis
•Clinical

Coarctatio Aorta •EKG


•CXR
•Echo

SIMPLE CoA CoA + VSD COMPLEX CoA

Ao Arch Ao Arch Hypoplastic LV & MV


Normal Hypoplastic HLH
REPAIR
• E-E NORWOOD
• Subclavian Flap Complete Repair HIGH RISK
• Patch Artoplasty In CPB CoA Repair
+
Single VSD Multiple/Big VSD Intra Cardiac
Repair
CoA Repair CoA Repair
VSD Closure PAB FONTAN
Norwood (step 1) Fontan (step 2)
Transposition of Great Arteries
 Each great vessel inappropriately arises from
the opposite ventricle.
 Aorta from RV and PA from LV.
 7% of CHD.
 Male : Female = 4 : 1
 Keywords:
- Cyanotic
- Plethora
- Shunt in the atrium, ventricle or great arteries
Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.
Symptom
 Cyanosis, dependent on degree of intermixing
 Normal body weight at birth
 Clubbing fingers at 5th month
 CHF at 1st month
Physical examination
 RV heaving
 Cardio & hepatomegaly
 Accentuated S2 (closure of anteriorly placed AV)
 Systolic murmur from PDA or VSD

Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.


Diagnostic studies
 Chest radiographs (usually normal, narrowing of
the basis, increased pulmonary vascular)
 ECG (RVH, RAH)
 Echo (RVH, ASD, VSD, PDA, TGA)
Treatment
 TGA is a medical emergency
 Prostaglandin infusion for PDA
 Rashkin procedure (balloon cath for interatrial
communication) until definitive surgery
 Jatene procedure (arterial switch)
Lilly. Pathophysiology of Heart Disease. Congenital Heart Disease. 2007.
LVOTO :
left ventricular outflow tract obstruction
•Clinical
•EKG
TGA •CXR
•Echo

VSD (-) VSD (+)

LVOTO (-) LVOTO (+)


< 1 mo > 1 mo

< 3 mo > 3 mo Dynamic LVOTO


or
Can not be
Cath Can be resected
resected
Cath

BTS
LV > 2/3 LV < 2/3 PARI PARI
<8 >8 Cath
PAB

ARTERIAL SWITCH &


ARTERIAL SWITCH PERFORATED VSD RASTELLI
Total Anomalous Pulmonary Venous Return
 Pulmonary veins end at systemic veins.
 1% of CHD.
 Types of TAPVR:
- Supracardial (SVC)
- Cardial (coronary sinus)
- Infracardial (portal vein, ductus venosus, IVC)
 Keywords:
- Cyanotic
- Plethora
- Shunt in the atrium
Symptom
 Cyanosis
 Recurrent lower RTI
 CHF at 2nd or 3rd month
Physical examination
 Wide splitting S2, accentuated P2
 Systolic ejection murmur at upper LSB
 Middiastolic murmur at lower LSB
 Hepatomegaly
Diagnostic studies
 Chest radiographs (normal size, increased
pulmonary vascular)
 ECG (RVH, RAH)
 Echo (RVH, RAH, small LAH and LVH)
 Cardiac Catheterization
Treatment
 TAPVR is a medical emergency
 CHF >> digitalis, diuretic
 Balloon atrial septostomy
 Elective surgery if no pulmonary vein obstruction
Truncus Arteriosus
 One great artery from LV and RV.
 3% of CHD.
 Four types of truncus arteriosus.
 Keywords:
- Cyanotic
- Plethora
- Shunt in the ventricle and truncus
Symptom
 Heart Failure (tachypnea, tachycardia)
 FD
 FTT
 Cyanosis
Physical examination
 Harsh holosystolic murmur at LSB
 Single and accentuated S2
 Systolic click at apex and upper LSB
 Early diastolic murmur (valve regurgitant)
Diagnostic studies
 Chest radiographs (cardiomegaly, increased
pulmonary vascular)
 ECG (LVH, LAH, RVH, RAH)
 Echo (LVH, LAH, RVH, RAH, VSD, Truncus
arteriosus)
 Cardiac Catheterization
Treatment
 Digitalis, diuretic, vasodilator
 Rastelli procedure at 3rd-6th month
 Antibiotic prophylaxis
Ebstein’s Anomaly
 Ebstein's anomaly is a congenital heart defect in which
the opening of the tricuspid valve is displaced towards
the apex of the right ventricle of the heart.
 The annulus of the valve is still in the normal position.
The valve leaflets, however, are to a varying degree,
attached to the walls and septum of the right ventricle.
There is subsequent 'atrialization' of a portion of the
morphologic right ventricle (which is then contiguous with
the right atrium). This causes the right atrium to be large
and the anatomic right ventricle to be small in size.
 About 50% of individuals with Ebstein's anomaly have
evidence of Wolff-Parkinson-White syndrome, secondary
to the atrialized right ventricular tissue.
Ebstein’s Anomaly
 Ebstein's cardiophysiology typically presents as an
(antidromic) AV nodal reentrant tachycardia with
associated pre-excitation. In this setting, the preferred
pharmacological treatment agent is procainamide. Since
AV-blockade may promote conduction over the
accessory pathway, drugs like beta blockers, calcium
channel blockers and digoxin are contraindicated.
 If there is atrial fibrillation with pre-excitation, treatment
options include procainamide, flecainide, propafenone,
dofetilide and ibutilide since these medications slow
conduction in the accessory pathway causing the
tachycardia and should be administered before
considering electrical cardioversion. Intravenous
amiodarone may also convert atrial fibrillation and/or
slow the ventricular response.
Double Outlet Right Ventricle
 Double outlet right ventricle (DORV) is a form
of congenital heart disease where both of the
great arteries connect (in whole or in part) to the
right ventricle (RV).
 In DORV with a subaortic VSD, blood from the
LV flows through the VSD to the aorta and blood
from the RV flows mainly to the pulmonary
artery, yielding physiology similar to Tetralogy of
Fallot.
 In DORV with a subpulmonic VSD (called
Taussig-Bing syndrome), blood from the LV
flows through the VSD to the pulmonary artery
and blood from the RV flows mainly to the
aorta, yielding physiology similar to
Transposition of the Great Arteries. But if there
is pulmonic stenosis in addition, physiology
resembles Tetralogy of Fallot.
 In other forms of DORV, blood from both
ventricles is substantially mixed in the RV,
yielding physiology that resembles a large
VSD. But again, if there is pulmonic stenosis,
physiology resembles Tetralogy of Fallot.
Double Outlet of Right Ventricle
Tricuspid Atresia
 Tricuspid atresia is a form of congenital heart
disease whereby there is a complete absence of
the tricuspid valve.
Clinical manifestations:
progressive cyanosis, poor feeding, tachypnea
over the first 2 weeks of life, holosystolic murmur
due to the VSD, left axis deviation on
electrocardiography and left ventricular
hypertrophy (since it must pump blood to both
the pulmonary and systemic systems), normal
heart size.
Treatment
 PGE1 to maintain patent ductus arteriosus
 modified Blalock-Taussig shunt to maintain
pulmonary blood flow by placing a Gortex
conduit between the subclavian artery and the
pulmonary artery
 cavopulmonary anastomosis (hemi-Fontan or
bidirectional Glenn) to provide stable pulmonary
flow
 Fontan procedure to redirect inferior vena cava
and hepatic vein flow into the pulmonary
circulation
Aortic Stenosis
Pulmonary Stenosis