Author/Authors :
Prakash، نويسنده , , Siddharth K. and Bossé، نويسنده , , Yohan and Muehlschlegel، نويسنده , , Jochen D. and Michelena، نويسنده , , Hector I. and Limongelli، نويسنده , , Giuseppe and Della Corte، نويسنده , , Alessandro and Pluchinotta، نويسنده , , Francesca R. and Russo، نويسنده , , Maria Giovanna and Evangelista، نويسنده , , Artur and Benson، نويسنده , , D. Woodrow and Body، نويسنده , , Simon C. and Milewicz، نويسنده , , Dianna M.، نويسنده ,
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.
Keywords :
Bicuspid , roadmap , Consortium , valve
