Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

ABSTRACT: Thoracic aortic aneurysm (TAA) is a genetically heterogeneous disease involving subclinical and progressive dilation of the thoracic aorta, which can lead to life-threatening complications such as dissection or rupture. Genetic testing is important for risk stratification and identification of at risk family members, and clinically available genetic testing panels have been expanding rapidly. However, when past testing results are normal, there is little evidence to guide decision-making about the indications and timing to pursue additional clinical genetic testing. Results from research based genetic testing can help inform this process. Here we present 10 TAA patients who have a family history of disease and who enrolled in research-based exome testing. Nine of these ten patients had pre

SUBMITTER: Schubert JA 

PROVIDER: S-EPMC5125072 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature