Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.

ABSTRACT:

Background

Genetic disorders are strongly associated with aortic disease. However, the identities of genetic mutations in sporadic Stanford type A aortic dissection (STAAD) are not clear. The present study analysed the possible genetic mutations of the known pathogenic genes of aortic disease and the clinical characteristics in patients with sporadic STAAD.

Methods

We analysed genetic mutations in 26 genes that underlie aortic aneurysms and dissections in 100 sporadic STAAD patients and 568 healthy controls after whole-genome sequencing (WGS). Clinical features and in-hospital death were determined in all STAAD patients.

Results

In total, 60 suspicious pathogenic mutations (56 novel and 4 previously reported) in 19 genes were identified in 50% (50/100) of patients, an

SUBMITTER: Chen ZR 

PROVIDER: S-EPMC8339749 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature