Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7

K. van Engelen, A. V. Postma, J. B. A. van de Meerakker, J. W. Roos-Hesselink, A. T. J. M. Helderman-van den Enden, H. W. Vliegen, T. Rahman, M. J. H. Baars, J-W Sels, U. Bauer, T. Pickardt, S. R. Sperling, A. F. M. Moorman, B. Keavney, J. Goodship, S. Klaassen, B. J. M. Mulder*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Web of Science)

Abstract

Ebstein's anomaly is a rare congenital heart malformation characterised by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. Associated abnormalities of left ventricular morphology and function including left ventricular noncompaction (LVNC) have been observed. An association between Ebstein's anomaly with LVNC and mutations in the sarcomeric protein gene MYH7, encoding beta-myosin heavy chain, has been shown by recent studies. This might represent a specific subtype of Ebstein's anomaly with a Mendelian inheritance pattern. In this review we discuss the association of MYH7 mutations with Ebstein's anomaly and LVNC and its implications for the clinical care for patients and their family members.
Original languageEnglish
Pages (from-to)113-117
JournalNetherlands Heart Journal
Volume21
Issue number3
DOIs
Publication statusPublished - Mar 2013

Keywords

  • Heart defects, congenital
  • Ebstein anomaly
  • Genetics
  • Cardiomyopathy
  • Isolated noncompaction of the ventricular myocardium

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