Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis.
The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome-an apparently unique combination. In addition, we discuss the relevant medical literature.
Guruprasad
G
Mahadevaiah
Manoj
M
Gupta
Ravi
R
Ashwath
D001344:Autopsy; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D004314:Down Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006333:Heart Failure / Q000209:etiology; D006343:Heart Septal Defects / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D010690:Phlebography; D011247:Pregnancy; D059285:Pregnancy, Twin; D011668:Pulmonary Veno-Occlusive Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
Abnormalities, multiple/genetics; Down syndrome/complications; cardiomyopathy, hypertrophic/complications/congenital; fatal outcome; heart defects, congenital/diagnosis/epidemiology; heart septal defects, ventricular/embryology/physiopathology; hypertension, pulmonary/complications; infant, newborn; pulmonary veins/physiopathology