Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study.

Adrian MahlmannNesma ElzanatyMai M SalehMarc IrqsusiArdawan RastanJennifer Lynne Leip Christian-Alexander Behrendt Tamer Ghazy

Published in: Journal of clinical medicine (2024)

Genetic variants are highly present in clinically relevant aortic pathologies. Variants appear to play a larger role than previously described. The different variants do not correlate with specific phenotypes, age, pathology, sex, or family history.

Keyphrases

aortic aneurysm
copy number
risk factors
aortic valve
spinal cord
high throughput
left ventricular
genome wide
spinal cord injury