Question
An infant born at term is noted to have cyanosis during the first week of life. On examination a heart murmur is auscultated. Abnormal
An infant born at term is noted to have cyanosis during the first week of life. On examination a heart murmur is auscultated. Abnormal findings with echocardiography include an overriding aorta, ventricular septal defect, right ventricular thickening, and pulmonic stenosis involving the fetal heart. This infant is most likely to have an inherited mutation involving which of the following genes? (A) B-myos in heavy chain (-MHC) (B) Fibrillin-1 L (C) KCNQ1 (D) NOTCH2 (E) Trans thyretin
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