Genetics of Valvular Heart Disease

Cardiovascular Genomics (R McPherson, Section Editor)

DOI: 10.1007/s11886-014-0487-2

Cite this article as:
LaHaye, S., Lincoln, J. & Garg, V. Curr Cardiol Rep (2014) 16: 487. doi:10.1007/s11886-014-0487-2
Part of the following topical collections:
  1. Topical Collection on Cardiovascular Genomics


Valvular heart disease is associated with significant morbidity and mortality and often the result of congenital malformations. However, the prevalence is increasing in adults not only because of the growing aging population, but also because of improvements in the medical and surgical care of children with congenital heart valve defects. The success of the Human Genome Project and major advances in genetic technologies, in combination with our increased understanding of heart valve development, has led to the discovery of numerous genetic contributors to heart valve disease. These have been uncovered using a variety of approaches including the examination of familial valve disease and genome-wide association studies to investigate sporadic cases. This review will discuss these findings and their implications in the treatment of valvular heart disease.


Heart valve Heart valve development Genetics Bicuspid aortic valve Aortic valve stenosis Mitral valve prolapse Myxomatous valve disease Pulmonic valve stenosis Ebstein anomaly Aortic valve calcification Valvular heart disease 

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Center for Cardiovascular and Pulmonary Research and The Heart Center, Room WB4221Nationwide Children’s HospitalColumbusUSA
  2. 2.Center for Cardiovascular and Pulmonary Research and The Heart Center, Room WB4239Nationwide Children’s HospitalColumbusUSA
  3. 3.Department of PediatricsThe Ohio State UniversityColumbusUSA
  4. 4.Department of Molecular GeneticsThe Ohio State UniversityColumbusUSA