Congenital heart disease

congenital cardiac malformations resulting from defective

embryonic
development without obvious cause.

Between 3-8 weeks gestation all the fetal

formed organogenesis

heart structures are

Incidence

8-10/1000 live births in india approximately 2000/ year

Incidence increased for siblings.

2-6%,10-12%,25%

Incidence is more in :a-Premature

b-abortions
c-still births

Etiology
Multifactorial inheritance pattern mostly :

Chromosomal abnormality (5-10%).

-Trisomy 21 (50%) > A-V canal,VSD,ASD, others.

-Trisomy 18 (80%)> VSD,ASD,others.
-Trisomy 13 (40%)> VSD,ASD,PDA,others.
-Turner syndrome (xo)>Bicuspid aortic valve and co-ao
-others.

Adverse maternal conditions (enviromential)

Maternal infections >Rubella:PDA,PS

Maternal diseases>
diseases> PKU-VSD,ASD
DM:left septal hypertrophy

Drugs>fetal
Drugs>fetal hydntoin syndrome- VSD
Valproate effect-co ao left heart hypoplasia
* Fetal alcohol syndrome>
syndrome> VSD,ASD,CO-AO.
-Advance maternal age.

Syndrome complexes

-VACTREL syndrome
Vertebral,Anorectal,Cardiac(VSD,TOF and
others),tracheal,Renal,Oesophageal and Limb abnormalities.
-CHARGE syndrome
Coloboma,Heart(VSD,TOF,A-V canal),
Atresia
choanal,Retardation,Gential,Ear abnormalties.
-Kartagener syndrome Dextrocardia
Majority of cases of the congenital heart diseases are unknown cause

Classification

C.H.D with little or no cyanosis acyanotic

a-With Lt. ventricular enlargement
ex.- PDA=8% ,CO-Ao= 5%
- aortic stenosis =7%
b-With Rt. Ventricular enlargement
ex.-ASD=10% ,PS=6%,MS
c-With both ventricular enlargement
ex.- VSD= 25%

Common acyanotic lesions

Ventricular septal defects

Atrial septal defects

Atrio-ventricular septal defects
Patent ductus arteriosus
Truncus arteriosus
Aortic stenosis
Mitral stenosis/incompetence
Coarctation of aorta
Tricuspid regurgitation

Common Cyanotic Lesions

Decreased flow
1. Tetralogy of Fallot
2. Tricuspid Atresia
3. Severe Pulmonic Stenosis
4. Ebsteins anamoly

Increased Flow
5. Transposition of great vessles
6. VSD with pulmonary atresia
7. Truncus Arteriosus
8. Hypoplastic left heart
9. Single ventricle

Prevalence

Cyanotic: 22%
Acyanotic: 68%

VSD

25%

ASD

6%

PDA

6%

TOF

5%

PS5%
PS5%

AS

5%

Diagnosis

Early diagnosis of C.H.D mean better results.

40% of C.H.D diagnosed at 1st w of life.
50-60 % diagnosed at 1st two months .
Others are usually later during routine medical examination.
Diagnosis depend on good clinical history + good medical
examination and investigations.

History

Age of the patient.

Ask for
-Feeding difficulties
-Vomiting
-Lethargy
-Increased perspiration
-Rapid respiration
-Hypoactivity
-F.T.T

All may be manifestation of congestive heart failure.

-History of dysnea on exertion.

-Shortness of breathing.
-Orthopnea.
-Lower limbs swelling
-Palpitation.

-Convulsion.
-All may be manifest of congestive heart failure.
Physical examination

Inspection look for:

-Cyanosis
-Digital clubbing
-Tachypnea
-Prominence of the precordium (cardiomegaly,Rt.heart enlargement )
-Jugular veins engorgement older children
-Any associated defects or findings (down syndrome, Digorge syndromeetc)

Auscultation
First heart sound (A-V valves closure)
Best heard at the Lt. lower sternal border or apex
Second heart sound (semilunar valve closure)
Best heard on the 1st and 2nd I.C.S , normally there
is normal splitting of the 2nd heart sound ,
Murmurs

Blood pressure

Wide pulse pressure

-Aortic insufficiency
-A-V communication
-PDA

Low blood pressure(H.F, pericardial tamponade,cardiomyopathy).

Difference in BP between upper and lower extremities

Co-ao.

Investigation

CBC---- polycythemia, anemia.etc

CXR----heart size and shape
ECG---HR,axis www.heartaxis.com ,rythm
LVH,RVH,BVH,BBB.
Echocardiography
MRI
Cardiac catheterization

Cyanosis: is it a cardiac cause or lung cause

Hyperoxia test

Neonates with cyanotic congenital heart disease

usually do not have significantly raised arterial Pao2

during administration of 100% oxygen.

Ventricular Defect

Small VSD

Asymptomatic
A loud, harsh, or blowing holosystolic murmur.

Large VSD

dyspnea, feeding difficulties, poor growth, profuse

perspiration, recurrent pulmonary infections, and
cardiac failure in early infancy.

Ventricular Septal Defect (VSD)

Ventricular Septal defects
3050% of small defects close spontaneously, most frequently during the 1st 2
yr of life.
Small muscular VSDs are more likely to close (up to 80%) than membranous
VSDs are (up to 35%).
infants with large defects have repeated episodes of respiratory infection and
heart failure despite optimal medical management.
Surgical repair prior to development of an irreversible increase in pulmonary
vascular resistance (usually prior to the patient's second birthday).

Atrial Septal Defects: secundum

Most common form of ASD (fossa ovalis)
In large defects, a considerable shunt of oxygenated blood flows from the left to
the right atrium.
Mostly asymptomatic
The 2nd heart sound is characteristically widely split and fixed.

Atrial Septal Defects: primum

Situated in the lower portion of the atrial septum and overlies the mitral and
tricuspid valves. In most instances, a cleft in the anterior leaflet of the mitral
valve is also noted.
Combination of a left-to-right shunt across the atrial defect and mitral
insufficiency
C/F similar to that of an ostium secundum ASD
Atrial Septal Defect
Enlargement of the right ventricle
Enlargement of atrium
Large pulmonary artery
increased pulmonary vascularity is.
Atrial Septal Defect
Three major types
Ostium secundum .1
most common
In the middle of the septum in the region of the foram
Ostium primum
Low position
Form of AV septal defect
Sinus venosus
Least common
Positioed high in the atrial septum
Secundum ASDs are well tolerated during childhood.
Antibiotic prophylaxis for isolated secundum ASDs is not recommended.
Surgery or transcatheter device closure is advised for all symptomatic patients
and also for asymptomatic patients with a Qp:Qs ratio of at least 2:1.

Ostium primum defects are approached surgically

Patent Ductus Arteriosus
Small defect no symptoms.
Large defect:
Wide pulse pressure
Enlarged heart
Thrill in L second IS
Continuous murmur
X-ray: prominent pulmonary artery with increased vascular markings.
Patent Ductus Arteriosus
Treatment consists of surgical correction when the PDA is large except in patients
with pulmonary vascular obstructive disease
Transcatheter closure of small defects has become standard therapy
In preterm infants indomethacin is used (80-90% success in infants > 1200 grams)
Primary Pulmonary Hypertension
Prominent pulmonary artery.
Prominent right ventricle
Prominent vascularity in the hilar areas
Decreased vascualr marking in the periphery.
No treatment

Cardiac disease with normal/decreased vasculature

Tetralogy of Fallot
Pulmonary atresia
Tricuspid atresia
Endocardial fibroelastosis
Aberrant left coronary artery
Cystic medial necrosis

Tetralogy of Fallot

Ventricular septal defect

Pulmonic stenosis
Overriding aorta

Right ventricular hypertrophy

Cyanosis, especially in the adult, is the result of a small number of cardiac
malformations well determined. Oneis much more frequent than the
others. This malformation consists of a true anatomopathologic type
:represented by the following tetralogy

;Stenosis of the pulmonary artery (1)

;Interventricular communication (2)
Deviation of the origin of the aorta to the right; and (3)
.Hypertrophy, almost always concentric in type, of the right ventricle (4)
Failure of obliteration of the foramen ovale may occasionally be added in a wholly
accessory manner. t
Most common cyanotic lesion (7 to 10% of all CHD)
Typical features*
Cyanosis after the neonatal period.1
Hypoxemic spells during infancy.2
Right-sided aortic arch in 25% of all patients.3

Repair may be staged (modified BT shunt) or

complete
Treatment of C.H.D

This is depend on the type of the C.H.D.

No treatment (observation+reassurance)
Medical treatment(antifailure,antiarythmaic..etc).
Surgical treatment (palliative or curative).
Cardiac transplant or lung heart transplant.

General measures-1

Special positions.
positions. (semisiting ,knee chest position (

O2 (most patients need O2 and other need little O2).

IVF(again
VF(again depend on type of CHD , some need IVF as PDA and PS ,
OTHERS need IVF when ever there are pulmonary congestion or
volume overload).

Salt restriction.
restriction.

Exercise restriction.
restriction.

Rx of anemia.
anemia.

Rx of congestive heart failure-2

Digoxin

Digitalization 0.04mg/kg
Maintenance 0.01mg/kg

Loop diuretics frusemide 1-2 mg/kg/day.

Potassium sparing diuretics spironlactone
After load reducing agents
eg. Captopril 0.5-6mg /kg/24 hours.
Positive intropic agents .dopamine and dobutamine

Rx of cardiac arrhythmias-3
Digoxin (be aware of toxicity nausia ,vomiting,AV block, K, ca).
Quinidine( hemolytic anemia.SLE,perodic paralysis)
Procainamide(agranulocytosis,+ve coombs hemolytic anemia)
Lidocaine (confusion, convulsion,respiratory failure,AV block).
Propranolol(bradycardia,bronchspasm,hypotensionetc).
Verapamil(bradycardia,PR interval prolongation,CHF).
Adenosine(chest pain,flushing,bronchospasm,bradycardia)

Rx of the cyanotic spells-4

Try to calm the patient .
Knee chest position,
O2
Propranolol IV.
Morphine s.c
NaHCO3 iv
Increase IV fluid.

Prophylaxis against infective endocarditis-5

By oral or parental antibiotics.
Given in case of dental procedures, urinary and GIT .
Instrumental proctoscopy,cystescopy.
Now a days lot of controversy about who should take the prophylactic
antibiotics.

Preventive measures

Avoid pregnancy above age of 38 year.

Avoid smoking.
Avoid alcohol.
Avoid exposure to radiation.
Avoid drugs intake before medical consultation.
Vaccination of all childbearing women for rubella.