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Genetic testing for bicuspid aortic valve

Authors :
Rakhmanov Yeltay
Maltese Paolo Enrico
Bruson Alice
Beccari Tommaso
Dundar Munis
Bertelli Matteo
Source :
The EuroBiotech Journal, Vol 2, Iss s1, Pp 67-70 (2018)
Publication Year :
2018
Publisher :
Sciendo, 2018.

Abstract

Bicuspid aortic valve (BAV) is a congenital defect in which the aortic valve has two rather than three leaflets. In many patients valve function may be normal but valve decompensation may occur due to other associated congenital abnormalities and secondary valve and aortic complications. Decompensation manifests as stenosis or regurgitation and thoracic aortic aneurysm and dissection. Cystic medial necrosis plays an important role in the pathogenesis of BAV. Prevalence of BAV is estimated at 0.5-2.0%. In children, 70-85% of stenotic aortic valves are bicuspid, compared to at least 50% in adults. BAV has autosomal dominant inheritance. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Details

Language :
English
ISSN :
2564615X
Volume :
2
Issue :
s1
Database :
Directory of Open Access Journals
Journal :
The EuroBiotech Journal
Publication Type :
Academic Journal
Accession number :
edsdoj.3c46e29924f4401ba28d3b5712624ade
Document Type :
article
Full Text :
https://doi.org/10.2478/ebtj-2018-0042