Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease

Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease

Summary: Bicuspid aortic valve (BAV) with ∼1%–2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to rare left-heart obstructions (left ventricular outflow t...

Full description

Bibliographic Details
Main Authors: Polakit Teekakirikul, Wenjuan Zhu, George C. Gabriel, Cullen B. Young, Kylia Williams, Lisa J. Martin, Jennifer C. Hill, Tara Richards, Marie Billaud, Julie A. Phillippi, Jianbin Wang, Yijen Wu, Tuantuan Tan, William Devine, Jiuann-huey Lin, Abha S. Bais, Jonathan Klonowski, Anne Moreau de Bellaing, Ankur Saini, Michael X. Wang, Leonid Emerel, Nathan Salamacha, Samuel K. Wyman, Carrie Lee, Hung Sing Li, Anastasia Miron, Jingyu Zhang, Jianhua Xing, Dennis M. McNamara, Erik Fung, Paul Kirshbom, William Mahle, Lazaros K. Kochilas, Yihua He, Vidu Garg, Peter White, Kim L. McBride, D. Woodrow Benson, Thomas G. Gleason, Seema Mital, Cecilia W. Lo
Format: Article
Language:English
Published: Elsevier 2021-07-01
Series:HGG Advances
Subjects:
bicuspid aortic valve
coarctaction
left ventricular outflow obstruction
genetics
protocadherin
copy number variants
Online Access:http://www.sciencedirect.com/science/article/pii/S266624772100018X

Internet

http://www.sciencedirect.com/science/article/pii/S266624772100018X

Similar Items