A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol 2014 Aug 26;64(8):832-9
Date
08/26/2014Pubmed ID
25145529Pubmed Central ID
PMC4485610DOI
10.1016/j.jacc.2014.04.073Scopus ID
2-s2.0-84907952707 (requires institutional sign-in at Scopus site) 176 CitationsAbstract
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.
Author List
Prakash SK, Bossé Y, Muehlschlegel JD, Michelena HI, Limongelli G, Della Corte A, Pluchinotta FR, Russo MG, Evangelista A, Benson DW, Body SC, Milewicz DM, BAVCon InvestigatorsMESH terms used to index this publication - Major topics in bold
AnimalsAortic Valve
Biomedical Research
Genetic Association Studies
Heart Valve Diseases
Humans
Mutation
