Clinical Characteristics

In three individuals from an extended family, a homozygous loss-of-function variant (G108*) in HEY2 caused critical CHD, including (but not restricted to) a ventricular septal defect, anterior and rightwards deviation of the aortic root, hypoplastic pulmonary arteries, pulmonary stenosis/atresia and myocardial hypertrabeculation. 40% of heterozygotes (n=20) had congenital heart disease, including septal defects and a right aortic arch, 35% had a thoracic aortic aneurysm, 25% had myocardial hypertrabeculation and 20% had valve abnormalities.