NCKAP1 and familial dilated cardiomyopathy: Importantly, Guo et al. (2020) also documented cardiac abnormalities in two unrelated families, one with bicuspid aortic valve (BAV) harboring a de novo gross chromosomal inversion interrupting NCKAP1, and another with dilated cardiomyopathy (DCM) and left ventricular systolic dysfunction and harboring a de novo missense variant, p.(Ala513Thr) [9].