Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.

Ming Hui Chen Ellen S DengJessica M YamadaSangita ChoudhuryJulia ScotellaroLily KelleyEric M Isselbacher Mark E LindsayChristopher A WalshRyan N Doan

Published in: Journal of the American Heart Association (2024)

Likely contributory dominant acting genetic variants were found in almost one quarter of nonsyndromic adults with TAA. Our findings suggest a more extensive genetic architecture to TAA than expected and that genetic testing may improve the care and clinical management of adults with nonsyndromic TAA.

Keyphrases

healthcare
copy number
palliative care
aortic valve
genome wide
quality improvement
left ventricular
pulmonary artery
pain management
heart failure
dna methylation
oxidative stress
atrial fibrillation
chronic pain
aortic dissection
pulmonary arterial hypertension