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

80 Citations (Scopus)

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

Fingerprint

Congenital Heart Defects
Bicuspid Aortic Valve
Aortic Valve
Phenotype
Population

Keywords

  • bicuspid
  • consortium
  • roadmap
  • valve

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications : Insights from the international BAVCon (bicuspid aortic valve consortium). / Prakash, Siddharth K.; Bossé, Yohan; Muehlschlegel, Jochen D.; Michelena, Hector I.; Limongelli, Giuseppe; Della Corte, Alessandro; Pluchinotta, Francesca R.; Russo, Maria Giovanna; Evangelista, Artur; Benson, D. Woodrow; Body, Simon C.; Milewicz, Dianna M.

In: Journal of the American College of Cardiology, Vol. 64, No. 8, 26.08.2014, p. 832-839.

Research output: Contribution to journalArticle

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 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, vol. 64, no. 8, pp. 832-839. https://doi.org/10.1016/j.jacc.2014.04.073
Prakash, Siddharth K. ; Bossé, Yohan ; Muehlschlegel, Jochen D. ; Michelena, Hector I. ; Limongelli, Giuseppe ; Della Corte, Alessandro ; Pluchinotta, Francesca R. ; Russo, Maria Giovanna ; Evangelista, Artur ; Benson, D. Woodrow ; Body, Simon C. ; Milewicz, Dianna M. / A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications : Insights from the international BAVCon (bicuspid aortic valve consortium). In: Journal of the American College of Cardiology. 2014 ; Vol. 64, No. 8. pp. 832-839.
@article{a16d3b36636c4c3ca6b8bd4e18c9cd93,
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.",
keywords = "bicuspid, consortium, roadmap, valve",
author = "Prakash, {Siddharth K.} and Yohan Boss{\'e} and Muehlschlegel, {Jochen D.} and Michelena, {Hector I.} and Giuseppe Limongelli and {Della Corte}, Alessandro and Pluchinotta, {Francesca R.} and Russo, {Maria Giovanna} and Artur Evangelista and Benson, {D. Woodrow} and Body, {Simon C.} and Milewicz, {Dianna M.}",
year = "2014",
month = "8",
day = "26",
doi = "10.1016/j.jacc.2014.04.073",
language = "English",
volume = "64",
pages = "832--839",
journal = "Journal of the American College of Cardiology",
issn = "0735-1097",
publisher = "Elsevier USA",
number = "8",

}

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

UR - http://www.scopus.com/inward/record.url?scp=84907952707&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84907952707&partnerID=8YFLogxK

U2 - 10.1016/j.jacc.2014.04.073

DO - 10.1016/j.jacc.2014.04.073

M3 - Article

C2 - 25145529

AN - SCOPUS:84907952707

VL - 64

SP - 832

EP - 839

JO - Journal of the American College of Cardiology

JF - Journal of the American College of Cardiology

SN - 0735-1097

IS - 8

ER -