Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.

ABSTRACT:

Background

Thoracic aortic dissection is an emergent life-threatening condition. Routine screening for genetic variants causing thoracic aortic dissection is not currently performed for patients or family members.

Methods

We performed whole exome sequencing of 240 patients with thoracic aortic dissection (n=235) or rupture (n=5) and 258 controls matched for age, sex, and ancestry. Blinded to case-control status, we annotated variants in 11 genes for pathogenicity.

Results

Twenty-four pathogenic variants in 6 genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, and TGFBR2) were identified in 26 individuals, representing 10.8% of aortic cases and 0% of controls. Among dissection cases, we compared those with pathogenic variants to those without and found that pathogenic variant carr

SUBMITTER: Wolford BN 

PROVIDER: S-EPMC6582991 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature