Congenital heart disease in Down syndrome: an echocardiographic study.

We evaluated the utility of echocardiography in assessing the frequency and nature of cardiac malformations in children with Down syndrome. Fifty cases of chromosomally proven Down syndrome were studied. A physical examination, electro cardiogram, radiograph of chest and two-dimensional echocardiography was performed on all patients. Twenty-two (44%) children had heart diseases. Endocardial-cushion-defect was the commonest anomaly, followed by ventricular septal defect. Three children with heart disease were asymptomatic and had normal X-ray films of chest and ECGs. The prevalence and specific type of congenital heart disease in this study is comparable to the studies using invasive means for diagnosis. The study further suggests that clinical examination of the cardiovascular system alone may not be sufficient in detecting heart disease. Two-dimensional echocardiography offers an excellent non-invasive tool for diagnosing cardiac malformations in Down syndrome.