Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis

Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis

Abstract Background Bicuspid aortic valve is the most common congenital valvular heart defect in the general population. BAV is associated with significant morbidity due to valve failure, formation of thoracic aortic aneurysm, and increased risk of infective endocarditis and aortic dissection. Loss...

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Bibliographic Details
Main Authors: Radoslaw Debiec, Stephen E. Hamby, Peter D. Jones, Sue Coolman, Manish Asiani, Shireen Kharodia, Gregory J. Skinner, Nilesh J. Samani, Tom R. Webb, Aidan Bolger
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
bicuspid aortic valve
exome sequencing
NOTCH1
Online Access:https://doi.org/10.1002/mgg3.1437

Internet

https://doi.org/10.1002/mgg3.1437

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