NOTCH1 and ventricular septal defect 1: Three NOTCH1 variants identified in our study (i.e., c. 1334C>T (p. T445M), c. 4168C>A (p. P1390T), c. 4028C>T (p. A1343V) were previously reported in thoracic aortic aneurysms in BAV patients [14,15], as well as in patients with Adams-Oliver syndrome which is associated with variable cardiac anomalies (i.e., ventricular septal defects, pulmonary atresia) [23].