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The hereditary basis of bicuspid aortic valve disease: a role for screening?

Authors Gharibeh L, Nemer M

Received 10 October 2014

Accepted for publication 11 November 2014

Published 23 December 2014 Volume 2015:5 Pages 11—17

DOI https://doi.org/10.2147/AGG.S59832

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 4

Editor who approved publication: Dr John Martignetti

Lara Gharibeh, Mona Nemer

Molecular Genetics and Cardiac Regeneration Laboratory, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada


Abstract: Over the past years, human and molecular genetic studies have provided new understanding of valve development and the molecular pathogenesis of bicuspid aortic valve (BAV) disease. BAV is an autosomal dominant disease with incomplete penetrance and is found to affect 1%–2% of the population. It can occur in isolation or coexists with other congenital heart diseases such as ventricular septal defect and tetralogy of fallot. BAV is a risk factor for premature cardiovascular disease and can lead to severe complications affecting the aorta and the valves. To date, NOTCH1 and GATA5 are the only genes linked to human BAV, and the genetic basis for most BAVs remains unidentified. Large-scale screening as well as whole exome sequencing studies hold promise for uncovering BAV-causing genes. Similarly, molecular analysis of valve development in animal models is needed for better insight of normal and pathologic valve formation. Together, these approaches will undoubtedly accelerate discovery of disease-causing genes opening the way for early diagnosis of BAV and prevention of valve degeneration and cardiovascular complications.

Keywords: congenital heart disease, valvulogenesis, genetic screening

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