000			01585cam a2200181 4500500
005			20250112021300.0
041			_afre
042			_adc
100	1	0	_aCadenet, Margaux _eauthor
700	1	0	_a Hanna, Nadine _eauthor
700	1	0	_a Arnaud, Pauline _eauthor
245	0	0	_aGenetics of thoracic aorta aneurysms
260			_c2022.
500			_a77
520			_aA thoracic aortic aneurysm occurs when the ascending part of the aorta dilates, which can lead to a dissection (TAAD—thoracic aortic aneurysm and dissection) or aortic rupture. The etiologies are diverse, but in approximately 20% of cases a genetic origin is found. About thirty genes are reported to be responsible for the development of TAAD. The majority of these genes encode for proteins involved in the extracellular matrix, the contraction of smooth muscle cells, or the growth factor TGF-β signaling pathway. Identifying the pathogenic variant responsible for the aortic disease becomes essential for making a definitive diagnosis, to guide and to personalize the treatment of the patients but also to screen relatives at risk. The availability and access to genetic testing have improved considerably with the development of new sequencing techniques (NGS—next-generation sequencing) and the use of gene panels. This review summarizes the main genes associated with TAAD as well as the current diagnostic strategy.
786	0		_nAnnales de Biologie Clinique | 80 | 4 | 2022-07-01 | p. 344-354 | 0003-3898
856	4	1	_uhttps://shs.cairn.info/journal-annales-de-biologie-clinique-2022-4-page-344?lang=en
999			_c135281 _d135281