Genetic testing for bicuspid aortic valve
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. Decompensat...
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doaj-3c46e29924f4401ba28d3b5712624ade2021-09-05T21:00:44ZengSciendoThe EuroBiotech Journal2564-615X2018-09-012s1677010.2478/ebtj-2018-0042ebtj-2018-0042Genetic testing for bicuspid aortic valveRakhmanov Yeltay0Maltese Paolo Enrico1Bruson Alice2Beccari Tommaso3Dundar Munis4Bertelli Matteo5MAGI’s Lab, Rovereto, ItalyMAGI’s Lab, Rovereto, ItalyMAGI’s Lab, Rovereto, ItalyDepartment of Pharmaceutical Sciences, University of Perugia, Perugia, ItalyDepartment of Medical Genetics, Erciyes University Medical School, Kayseri, TurkeyMAGI’s Lab, Rovereto, ItalyBicuspid 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.https://doi.org/10.2478/ebtj-2018-0042bicuspid aortic valveebtna utility gene test |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Rakhmanov Yeltay Maltese Paolo Enrico Bruson Alice Beccari Tommaso Dundar Munis Bertelli Matteo |
spellingShingle |
Rakhmanov Yeltay Maltese Paolo Enrico Bruson Alice Beccari Tommaso Dundar Munis Bertelli Matteo Genetic testing for bicuspid aortic valve The EuroBiotech Journal bicuspid aortic valve ebtna utility gene test |
author_facet |
Rakhmanov Yeltay Maltese Paolo Enrico Bruson Alice Beccari Tommaso Dundar Munis Bertelli Matteo |
author_sort |
Rakhmanov Yeltay |
title |
Genetic testing for bicuspid aortic valve |
title_short |
Genetic testing for bicuspid aortic valve |
title_full |
Genetic testing for bicuspid aortic valve |
title_fullStr |
Genetic testing for bicuspid aortic valve |
title_full_unstemmed |
Genetic testing for bicuspid aortic valve |
title_sort |
genetic testing for bicuspid aortic valve |
publisher |
Sciendo |
series |
The EuroBiotech Journal |
issn |
2564-615X |
publishDate |
2018-09-01 |
description |
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. |
topic |
bicuspid aortic valve ebtna utility gene test |
url |
https://doi.org/10.2478/ebtj-2018-0042 |
work_keys_str_mv |
AT rakhmanovyeltay genetictestingforbicuspidaorticvalve AT maltesepaoloenrico genetictestingforbicuspidaorticvalve AT brusonalice genetictestingforbicuspidaorticvalve AT beccaritommaso genetictestingforbicuspidaorticvalve AT dundarmunis genetictestingforbicuspidaorticvalve AT bertellimatteo genetictestingforbicuspidaorticvalve |
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