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Which congenital heart defect is suggested by a newborn presenting with down syndrome and ventricular hypertrophy?

  1. Atrioventricular canal

  2. Cor pulmonale

  3. Total anomalous venous connection

  4. Ventricular septal defect

The correct answer is: Atrioventricular canal

The presentation of a newborn with Down syndrome and ventricular hypertrophy is indicative of an atrioventricular canal defect. This congenital heart defect is particularly common in infants with Down syndrome due to the association of genetic factors that influence heart development. The atrioventricular canal defect results from the failure of proper division of the common atrioventricular canal, leading to a single common atrioventricular valve instead of separate mitral and tricuspid valves. This condition allows for increased blood flow to the lungs, causing volume overload and subsequent ventricular hypertrophy, which can be seen in the newborn's echocardiogram and clinical examination. The relationship between Down syndrome and atrioventricular canal defects highlights the importance of recognizing congenital heart defects within this population, as early diagnosis is crucial for management and intervention. Other options presented do not share the same association or would not lead to the clinical findings described. For instance, cor pulmonale is primarily related to pulmonary hypertension and right heart failure rather than ventricular hypertrophy due to the structural defects typical in Down syndrome. Total anomalous pulmonary venous connection (TAPVC) involves atypical drainage patterns of pulmonary veins but does not inherently cause ventricular hypertrophy or is not directly linked with Down syndrome in this