Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

ABSTRACT:

Background

Thoracic aortic aneurysm and dissection (TAAD) is a life-threatening pathology that remains a challenge worldwide. Up to 40% of TAAD cases are hereditary with complex heterogeneous genetic backgrounds. The purposes of this study were to determine the diagnostic rate of patients with TAAD, investigate the molecular pathologic spectrum of TAAD by next-generation sequencing (NGS), and explore the future preclinical prospects of genetic diagnosis in patients at high -risk of study.

Methods

NGS was used to screen 15 genes associated with genetic TAAD in 212 patients from northwestern China. Clinical data of patients were gathered by electrocardiography, transthoracic echocardiography, and computed tomography.

Results

Of the 212 patients, 67 (31.60%) tested posit

SUBMITTER: Li J 

PROVIDER: S-EPMC8580079 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature