Exploring the genetic pathogenicity of aortic dissection from 72 Han Chinese individuals using next‐generation sequencing

Abstract

Aortic dissection (AD) is a heterogeneous genetic disease with high morbidity and mortality. Although many genes predispose patients to AD, the pathogenic spectrum remains incomplete. This study aims to (a) investigate whether genotype differences exist between Stanford A and B AD individuals, and (b) broaden the pathogenic genetic spectrum of AD and reported novel variants of AD-associated genes. The DNA of 72 unrelated Han Chinese individuals with AD was tested by whole-exome prognosis of this disease is poor; about 21% of patients die of rupture before admission, and 68.2% of hospitalized patients die within 48 hours if there is no emergency surgery. 3 Based on the widely used Stanford system, dissections involving the ascending aorta are classified as Stanford A AD and those only involving the descending aorta are classified as Stanford B AD. 4Genetic variants predispose individuals to this aortic disease and hence can be used to identify patients at risk or prevent premature deaths due to rupture or other dissection-related complications. 5