Syndromes in CHD

Syndromes in CHD

Here is a short list of syndromes in CHD (Congenital Heart Disease. Only the cardiovascular abnormalities are listed here. Various other associated anomalies in other systems are there in each of these syndromes.

Alagille syndrome: Peripheral pulmonic stenosis
Catch 22 syndrome: Conotruncal anomalies like tetralogy of Fallot, ventricular septal defect, collaterals and right aortic arch
DiGeorge syndrome: Truncus arteriosus, interrupted aortic arch
Down’s syndrome: AV canal defects
Ellis-van Creveld syndrome: Single atrium
Holt-Oram syndrome: Atrial septal defect and occasionally other defects like ventricular septal defect
Kartagener syndrome: Dextrocardia, situs inversus, immotile cilia
Marfan’s syndrome: Aortic root dilatation and mitral valve prolapse
Noonan syndrome: Peripheral pulmonary stenosis and hypertrophic cardiomyopathy
Pompe’s disease: Hypertrophic cardiomyopathy
Turner’s syndrome: Coarctation of aorta and bicuspid aortic valve
Williams’s syndrome: Supravalvar aortic stenosis and peripheral pulmonary stenosis
Kabuki Syndrome: Ventricular septal defect, atrial septal defect, tetralogy of Fallot, single ventricle, coarctation of aorta, patent ductus arteriosus, transposition of great arteries
Duane-radial Ray Syndrome DDRS (Okihiro Syndrome): Ventricular septal defect, patent foramen ovale, tetralogy of Fallot
CHARGE syndrome (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and/or deafness): Tetralogy of Fallot, atrial septal defect, ventricular septal defect
Cri-Du-Chat syndrome: Ventricular septal defect, patent ductus arteriosus, atrial septal defect, tetralogy of Fallot
Patau syndrome: Atrial septal defect, ventricular septal defect, patent ductus arteriosus
Edwards syndrome: Atrial septal defect, ventricular septal defect, patent ductus arteriosus

Further details of most of these syndromes are available in the article by Fahed AC et al [1].

Reference

1. Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res. 2013 Feb 15;112(4):707-20.