Arterial Tortuosity Syndrome in a Term Neonate

A full-term male neonate presented with a heart murmur along with skin laxity, joint hypermobility, and abnormal facies at birth. Echocardiography (Figure 1) showed a very tortuous aortic arch with abnormal takeoff of the neck vessels. Color Doppler imaging showed mild flow acceleration at the aortic isthmus and stenosis in the proximal left pulmonary artery, with peak gradient of 64 mm Hg. Magnetic resonance angiography (Figure 2) demonstrated...