Autosomal Dominant Inheritance of a Predisposition to Thoracic Aortic Aneurysms and Dissections and Intracranial Saccular Aneurysms

摘要

A genetic predisposition for thoracic aortic aneurysms and dissections (TAAD) can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Four genes identified to date for familial TAAD account for approximately 20% of the heritable predisposition. In a cohort of 514 families with two or more members with presumed autosomal dominant TAAD, 48 (9,3%) families have one or more members who were at 50% risk to inherit the presumptive gene causing TAAD had an intracranial vascular event. In these families, gender is significantly associated with disease presentation (P< 0.001), with intracranial events being more common in women (65,4%) while TAAD events occurred more in men (64.2%,).