Article
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.
Journal of the American College of Cardiology - 7 Aug 2018
Renard Marjolijn, Francis Catherine, Ghosh Rajarshi, Scott Alan F, Witmer P Dane, Adès Lesley C, Andelfinger Gregor U, Arnaud Pauline, Boileau Catherine, Callewaert Bert L, Guo Dongchuan, Hanna Nadine, Lindsay Mark E, Morisaki Hiroko, Morisaki Takayuki, Pachter Nicholas, Robert Leema, Van Laer Lut, Dietz Harry C, Loeys Bart L, Milewicz Dianna M, De Backer Julie
Abstract excerpt
BACKGROUND: Thoracic aortic aneurysms progressively enlarge and predispose to acute aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying Mendelian pathogenic variant. An evidence-based strategy for selection of genes to test in hereditary thoracic aortic aneurysm and dissection (HTAAD) helps inform family screening and intervention to prevent life-threatening thoracic...
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