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Dnipropetrovsk Medical Institute
of Conventional and Alternative Medicine
Department of Obstetrics, Gynecology and pediatric
CONGENITAL
HEART DISEASE
lecture №6
 ~1% in the general population (6-8 per 1000
live births)
 Incidence in stillborns (3-4%), aborted fetus
(10-25%), premature infants (2%)
 Diagnosis made in 40-50% by one week of
age, in 50-60% by 1 mo of age
 Recurrence risk - if h/o one affected sibling –
 VSD, PDA  3%
 TOF, ASD2.5%
 Tricuspid atresia, Ebstein anomaly1%
 Inheritance- Dominant pattern –
 ASD, supravalvular aortic stenosis,
cardiomyopathy
 Osteogenesis Imperfecta: Aortic regurgitation
 Marfan Syndrome:
Aortic dilatation, aortic & mitral incompetence
5 % associated with Chromosomal anomalies:
 Trisomy 13, 18 (>90%), 21 (50%)
 18 Trisomy - VSD, PDA, DORV
 13 Trisomy - Dextocardia,VSD, PDA
 21 Trisomy Downs syndrome - A-V canal
defect, VSD
 Turner’s syndrome (40%) - Coarctation of
aorta, aortic stenosis
 Deletion chromosome 22q11: Di George
syndrome
 Familial cardiomyopathies: HCM, DCM
 Occur equally among males and females,
but—
 More common in males:
aortic stenosis, coarctation of the
aorta
 More common in females:
PDA, ASD
High altitude

Maternal Ds
a) Diabetes: TGA ,VSD, situs inversus,
single ventricle, hypoplastic left
ventricle
b) SLE: Congenital heart block

3. Maternal Infections:
 Rubella: PDA, pulmonary stenosis, VSD, ASD
 Mumps: Endocardial Fibroelastosis
4. Maternal Drugs:
 Lithium: Tricuspid valve abnormalities,
Ebstein’s Anomaly
 Thalidomide
 Alcohol abuse: VSD
- warfarin, anticonvulsants,
antimetabolites , Phenytoin : Variable
1. Acyanotic
2. Cyanotic lesions
Acyanotic
volume load
-L→R shunts
pressure load
obstr. ventric. outflow
-ASD
stenosis
-VSD
-AV canal
-Patent ductus arterisus
- Pulmonary valve
- Aortic valve stenosis
- Coarctation of aorta
Cyanotic
↑ pulmonary flow
↓ pulmonary flow
• TGA
• Single ventricle
• Truncus arteriosus
• TAPVR w/o obstruction
• TOF
• Pulmonary atresia
• Tricuspid atresia
• TAPVR with obstruction




Absence of cyanosis
Frequent chest infections -Due to
decreased lung compliance which leads to
frequent respiratory tract infections
Precordial bulge
Excessive sweating - Tendency for CCF
 Failure to thrive - due to poor oxygen
saturation in the growing tissues,
persistent heart failure, and frequent
respiratory infections with undernutrition
 Cardiomegaly
 Shunt & flow murmurs
 Plethoric lung fields
 Absence of cyanosis or frequent chest
infections
 Normal precordial shape
 Forcible/heaving cardiac impulse,
without cardiomegaly
 Delayed S2
 Ejection systolic murmur, with thrill
 Absence of diastolic murmurs
 Normal sized heart with normal
pulmonary vascularity
 Ventricular hypertrophy on ECG
 Chest pain- severe aortic stenosis lead to
myocardial ischemia
 Cyanosis- Occurs under following
circumstances
1. Reduced pulmonary blood flow in defects
with right ventricular outflow tract
obstruction
2. R→L as in tetralogy of Fallot
3. Discordant ventriculoarterial connections –
TGA
4. Mixing of venous and arterial blood –
truncus arteriosus or single ventricle
 Hypercyanotic Spells
Fallot's tetralogy and defects with Fallot's
physiology
**Due to pulmonary infundibular stenosis
 Clubbing
 Polycythemia
 Murmurs
 FTT
 Heart Failure occurs in following situations :
 Volume overload- all defects with L →R
shunt like VSD,ASD,PDA
 Pressure overload - in pulmonary and aortic
valve stenosis
 Intrinsic myocardial diseases cardiomyopathies,
 Decreased or increased diastolic fillings tachyarrhythmias and bradyarrhythmias.
1.
2.
3.
Chest X-ray: shape & size of heart,
vascularity, pulmonary edema, lung &
thoracic anomalies
ECG: Hypertrophy
Hematology: anemia (? Physiological,
iron deficiency), polycythemia
 Echocardiography/Doppler Echo:
intracardiac anatomy of all structural
defects , hemodynamic data regarding
pressure gradients across valves, cardiac
contractility, flow, vegetations
6.Cardiac catheterisation: calculates 02
saturation, shunt volumes, pressures, etc
 Indications
 Preoperative identification of the lesions
 Preoperative physiological assessment of
pulmonary artery pressure and press
gradient
 Therapeutic interventional procedures
1.Baloon dilatation of stenotic valve and
coarctation of aorta
2. Blade and baloon atrial septoplasty
3. Non- surgical closure of PDA ,ASD
4.Catheter ablation of arrythmogenic focus by
pacemaker implantation
7. Exercise testing
8. MRI
9. Angiocardiography
10.Interventional catheterisation


1.
2.
3.
4.
5.

Early identification of problem
Supportive management:
Treatment of heart failure
Prevent frequent RTIs
Maintain required weight , Hb
Infective endocarditis prophylaxis
Regular follow-ups
Surgical management
 Three major types
 Ostium secundum
 most common- 50-70%,
 In the middle of the septum in the
region of the foramen ovale
 Ostium primum -30%
 Low position
 Form of AV septal defect
 Sinus venosus
 Least common-10%
 Site-at entry of superior venacava
into right atrium
 Mitral valve prolapse associated in ~20%
with ostium secundum or sinus venosus
defect
Thank you
for
attention