Congenital Heart Disease USMLE Step 1 Practice Question
A 2-hour-old term male infant presents with severe cyanosis, shock, and metabolic acidosis. He has been dependent on prostaglandin E1 infusion since birth. Echocardiography shows a single arterial trunk arising from the heart with a large VSD and a single truncal valve. Which of the following associated anomalies is most likely present?
Answer choices
- AWilliams syndrome
- BMarfan syndrome
- CDiGeorge syndrome (22q11 deletion)Correct answer
- DNoonan syndrome
- EDown syndrome (Trisomy 21)
- FTurner syndrome (45,X)
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