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?
- A)Williams syndrome
- B)Marfan syndrome
- C)DiGeorge syndrome (22q11 deletion)GABARITO
- D)Noonan syndrome
- E)Down syndrome (Trisomy 21)
Explicação
Truncus arteriosus is associated with DiGeorge syndrome (22q11 deletion) in approximately 30-40% of cases. This syndrome also causes thymic hypoplasia, cleft palate, hypocalcemia, and immune deficiency. The truncus arteriosus classification system depends on t... Ver explicação completa e trilha adaptativa →