title: A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium).
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.
authors.affiliation: Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas. Electronic address: siddharth.k.prakash@uth.tmc.edu.
authors.forename: Siddharth K
authors.initials: SK
authors.lastname: Prakash
authors.affiliation: Institut Universitaire de Cardiologie et de Pneumologie de Québec, Department of Molecular Medicine, Laval University, Québec City, Québec, Canada.
authors.forename: Yohan
authors.initials: Y
authors.lastname: Bossé
authors.affiliation: Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: Jochen D
authors.initials: JD
authors.lastname: Muehlschlegel
authors.affiliation: Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
authors.forename: Hector I
authors.initials: HI
authors.lastname: Michelena
authors.affiliation: Department of Cardiology, Second University of Naples and Monaldi Hospital, Naples, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Limongelli
authors.affiliation: Department of Cardiothoracic Sciences, Second University of Naples and Monaldi Hospital, Naples, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Della Corte
authors.affiliation: Division of Pediatric Cardiology and Congenital Heart Disease in Adults, I.R.C.C.S. Policlinico San Donato, San Donato Milanese, Milan, Italy.
authors.forename: Francesca R
authors.initials: FR
authors.lastname: Pluchinotta
authors.affiliation: Department of Cardiology, Second University of Naples and Monaldi Hospital, Naples, Italy.
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Russo
authors.affiliation: Department of Cardiology, Hospital Vall d'Hebron, Universitat Autonòma de Barcelona, Barcelona, Spain.
authors.forename: Artur
authors.initials: A
authors.lastname: Evangelista
authors.affiliation: Herma Heart Center, Children's Hospital of Wisconsin, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: D Woodrow
authors.initials: DW
authors.lastname: Benson
authors.affiliation: Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: Simon C
authors.initials: SC
authors.lastname: Body
authors.affiliation: Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas.
authors.forename: Dianna M
authors.initials: DM
authors.lastname: Milewicz
mesh_terms: D000818:Animals; D001021:Aortic Valve / Q000002:abnormalities*; D000082882:Bicuspid Aortic Valve Disease; D035843:Biomedical Research; D056726:Genetic Association Studies; D006349:Heart Valve Diseases / Q000150:complications* / Q000235:genetics*; D006801:Humans; D009154:Mutation
keywords: bicuspid; consortium; roadmap; valve