title: Genetic testing in aortic aneurysm disease: PRO.
abstract: Thoracic aortic aneurysms leading to type A dissections (TAAD) are the major diseases affecting the aorta. A genetic predisposition for TAAD can occur as part of a genetic syndrome. It can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Genetic heterogeneity for familial TAAD has been demonstrated with the identification of four genes leading to TAAD. Genetic testing for TAAD and the phenotype and management of patients harboring mutations in these genes are addressed in this article.
authors.affiliation: Department of Internal Medicine, University of Texas Health Science Center at Houston, 6431 Fannin Street MSB 6.100, Houston, TX 77030, USA. Dianna.m.milewicz@uth.tmc.edu
authors.forename: Dianna M
authors.initials: DM
authors.lastname: Milewicz
authors.forename: Alicia A
authors.initials: AA
authors.lastname: Carlson
authors.forename: Ellen S
authors.initials: ES
authors.lastname: Regalado
mesh_terms: D001014:Aortic Aneurysm / Q000175:diagnosis* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D015203:Reproducibility of Results
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