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
spinal cord
quality improvement
dna repair
left ventricular
pulmonary artery
gene expression
dna methylation
spinal cord injury
dna damage
chronic pain
health insurance