TY - JOUR
T1 - A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications
T2 - Insights from the international BAVCon (bicuspid aortic valve consortium)
AU - Prakash, Siddharth K.
AU - Bossé, Yohan
AU - Muehlschlegel, Jochen D.
AU - Michelena, Hector I.
AU - Limongelli, Giuseppe
AU - Della Corte, Alessandro
AU - Pluchinotta, Francesca R.
AU - Russo, Maria Giovanna
AU - Evangelista, Artur
AU - Benson, D. Woodrow
AU - Body, Simon C.
AU - Milewicz, Dianna M.
PY - 2014/8/26
Y1 - 2014/8/26
N2 - 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.
AB - 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.
KW - bicuspid
KW - consortium
KW - roadmap
KW - valve
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U2 - 10.1016/j.jacc.2014.04.073
DO - 10.1016/j.jacc.2014.04.073
M3 - Review article
C2 - 25145529
AN - SCOPUS:84907952707
SN - 0735-1097
VL - 64
SP - 832
EP - 839
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 8
ER -