A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: Insights from the international BAVCon (bicuspid aortic valve consortium)

Siddharth K. Prakash, Yohan Bossé, Jochen D. Muehlschlegel, Hector I. Michelena, Giuseppe Limongelli, Alessandro Della Corte, Francesca R. Pluchinotta, Maria Giovanna Russo, Artur Evangelista, D. Woodrow Benson, Simon C. Body, Dianna M. Milewicz

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)832-839
Number of pages8
JournalJournal of the American College of Cardiology
Volume64
Issue number8
DOIs
Publication statusPublished - Aug 26 2014

Keywords

  • bicuspid
  • consortium
  • roadmap
  • valve

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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  • Cite this

    Prakash, S. K., Bossé, Y., Muehlschlegel, J. D., Michelena, H. I., Limongelli, G., Della Corte, A., Pluchinotta, F. R., Russo, M. G., Evangelista, A., Benson, D. W., Body, S. C., & Milewicz, D. M. (2014). A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: Insights from the international BAVCon (bicuspid aortic valve consortium). Journal of the American College of Cardiology, 64(8), 832-839. https://doi.org/10.1016/j.jacc.2014.04.073