Congenital Heart Disease/Defects CHD Prevalence,Etiology,Murmurs

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

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Congenital Heart Disease : An Overview

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CONGENITAL HEART DISEASE - AN OVERVIEW

Related topics

Cyanosis and Congestive Heart Failure and Cyanotic CHD

Clinical Manifestations of CHD

Obstructive Lesions of CHD

L -R Shunt Lesions of CHD

CHD Associated Anomalies

Dr N.C.Joshi
Consultant Pediatrician,
Consultant at Nanavati Hospital,
Ex Dean:-B.J.Wadia Children's Hospital.

Prevalence of Congenital Heart Defects :


Type of CHD		Hospital for sick Children, Toronto (n=15104) % of Patients

1.	VSD	28.3
2.	PS	9.9
3.	PDA	9.8
4.	TOF	9.7
5.	AS	7.1
6.	ASD	7.0
7.	CoA	5.1
8.	D-TGA	4.4
9.	ECD	3.4
10.	OTHER	15.3

*See list of abbreviations at end of this article.

Etiological Basis of Congenital Heart Disease :

Primary Genetic Factors

Chromosomal	5%
Single Mutant Gene	3%

Primarily Environmental Factors
Rubella	1%
Other	1%

Genetic-Environmental Interaction
(Multifactorial Inheritance)	90%

GENETIC CAUSES OF CARDIAC MALFORMATIONS :

Selected Chromosomal Aberrations:

21 Trisomy-VSD, A-V canal, ASD
22 Partial Trisomy (Cat Eye)-ASD, VSD
4p-- ASD, VSD
5p- (Cri- Du- Chat)-VSD, PDA
8 Trisomy (Mosaic)-VSD, ASD
9 Trisomy (Mosaic)-VSD, CoA
13q--VSD
+14q--PDA, ASD
18q--VSD
XO TURNER-CoA, AS
XXXX-PDA, ASD

Autosomal Dominant Conditions

Marfan's Syndrome- Aortic Aneurysm, AI, MVP
Noonan's Syndrome- PS, ASD
William's Syndrome- Supravalvular AS, PPS
Holt- Oram -ASD, VSD
Neurofibromatosis-PS, CoA

Autosomal Recessive Conditions

Fredreich's Ataxia-Cardiomyopathy
Pompe's disease-Cardiomyopathy
Ellis Van Creveld Syndrome-Single Atrium
Hurler's Disease-Coronary Artery Disease

SELECTION OF POTENTIAL (CV) TERATOGENS:

POTENTIAL TERATOGENS	FREQUENCY OF CV DISEASE	MOST COMMON MALFORMATIONS
Drugs
Alcohol	25-30%	VSD, PDA, ASD
Amphetamines	5-10%	VSD, PDA,ASD,D-TGA
Anticonvulsants
Hydantoin	2-3%	PS, AS, CoA, PDA
Trimethadione	15-30%	D-TGA, TOF, HLHS
Lithum	10%	Ebstein, ASD
Sex Hormones	2-4%	VSD, D-TGA,TOF
Thalidomide	5-10%	TOF, VSD, ASD
Infections
Rubella	35%	PPS, PDA, VSD, ASD
Maternal Conditions
Diabetes	3-5% (30-50%)	D-TGA, VSD, CoA(cardiomyopathy)
Lupus	50%	Heart block
Phenylketonuria	25-50%	TOF, VSD, ASD

VARIOUS PRESENTATIONS OF CONGENITAL HEART DISEASE :


Asymptomatic (heart murmur)	-	Small VSD, ASD
Cyanosis	-	D-TGA, TOF
Congestive heart failure	-	Large L-R shunt lesions
Syncope	-	AS, PS

MURMURS:

Incidence : 2/3 to 3/4 of all children

Types of murmurs : systolic, diastolic and continuous

Groups of murmurs :

Functional murmur - secondary to anemia, fever etc.
Innocent murmur - Still's murmur, venous, hum, etc
Organic murmur - secondary to cardiovascular defect function

Next : Cyanosis and Congestive Heart Failure and Cyanotic CHD

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