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A Roadmap to Investigate the Genetic Basis of Bicuspid Aortic Valve and its Complications

Authors :
Artur Evangelista
Francesca Romana Pluchinotta
Hector I. Michelena
D. Woodrow Benson
Jochen D. Muehlschlegel
Giuseppe Limongelli
Alessandro Della Corte
Yohan Bossé
Dianna M. Milewicz
Maria Giovanna Russo
Simon C. Body
Siddharth K. Prakash
Source :
Journal of the American College of Cardiology. 64:832-839
Publication Year :
2014
Publisher :
Elsevier BV, 2014.

Abstract

Bicuspid aortic valve (BAV) is the most common adult congenital heart defect and is found in 0.5% to 2.0% of the general population. The term “BAV” refers to a heterogeneous group of disorders characterized by diverse aortic valve malformations with associated aortopathy, congenital heart defects, and genetic syndromes. Even after decades of investigation, the genetic determinants of BAV and its complications remain largely undefined. Just as BAV phenotypes are highly variable, the genetic etiologies of BAV are equally diverse and vary from complex inheritance in families to sporadic cases without any evidence of inheritance. In this paper, the authors discuss current concepts in BAV genetics and propose a roadmap for unraveling unanswered questions about BAV through the integrated analysis of genetic and clinical data.

Details

ISSN :
07351097
Volume :
64
Database :
OpenAIRE
Journal :
Journal of the American College of Cardiology
Accession number :
edsair.doi.dedup.....131024e6c881e65e9adbaf5f2a4ed908
Full Text :
https://doi.org/10.1016/j.jacc.2014.04.073