Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7

Authors

  • Alexa M.C. Vermeer,

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    • Alexa M.C. Vermeer, M.D., works as a resident at the Department of Clinical Genetics of the Academic Medical Center in Amsterdam. Her Ph.D. project focuses on hypertrophic cardiomyopathy.
  • Klaartje van Engelen,

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    • Klaartje van Engelen, M.D., works as a resident at the Department of Clinical Genetics of the Academic Medical Center in Amsterdam. Her Ph.D. project focuses on genetic causes of congenital heart disease in general, as well as genetic counseling issues related to this topic.
  • Alex V. Postma,

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    • Alex V. Postma, PhD, is an Assistant Professor of Anatomy, Embryology & Physiology at the Academic Medical Center of Amsterdam. He specializes in genetics, with a particular interest in congenital heart defects.
  • Marieke J.H. Baars,

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    • Marieke J.H. Baars, M.D., Ph.D. is clinical geneticist at the Academical Medical Center, Amsterdam. She is specialized in the care for cardiogenetic patients and connective tissue disorders. She obtained her Ph.D. on genetic knowledge and competence of non-genetic healthcare providers.
  • Imke Christiaans,

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    • Imke Christiaans, M.D., Ph.D., works as a clinical geneticist at the Academic Medical Center in Amsterdam. Her work, both clinical and research, focuses on the inherited cardiomyopathies and primary electrical diseases.
  • Simone De Haij,

  • Sabine Klaassen,

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    • Sabine Klaassen is a Pediatric Cardiologist at the Charite University Hospital in Berlin, Germany. Her research interest is in the molecular genetics of congenital heart disease which she has pursued in the past years at the Max-Delbrück-Center for Molecular Medicine, also in Berlin, Germany.
  • Barbara J.M. Mulder,

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    • Barbara J.M. Mulder is Professor of Cardiology in the Academic Medical Center in Amsterdam and she is specialized in the field of adult congenital cardiology. In 2001 she initiated the national registry and DNA bank for congenital heart disease in the Netherlands. She chaired the European Survey on congenital heart disease. From 2010 until 2012 she was president of the International Society of Adult Congenital Cardiology. Since April 2013 she is incoming president of the Netherlands Society of Cardiology.
  • Bernard Keavney

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    • Bernard Keavney qualified in medicine from Oxford in 1988, and received his research training as a UK Medical Research Council training fellow in Oxford where he also trained in interventional cardiology. In 2001 he moved to Newcastle University, UK where he founded the Molecular Cardiology Research Group. He was awarded a British Heart Foundation Personal Chair in 2008. In 2013 he took up post as Director of the Institute of Cardiovascular Sciences at The University of Manchester, UK. In addition to his research in human genetics of cardiovascular disease, he continues to practice clinical cardiology.

  • Conflicts of interest: none.

Correspondence to: Prof. Dr. Barbara J.M. Mulder, Academic Medical Center, Department of Cardiology, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. E-mail: b.j.mulder@amc.uva.nl

Abstract

Left ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy, characterized by prominent trabeculations with deep intertrabecular recesses in mainly the left ventricle. Although LVNC often occurs in an isolated entity, it may also be present in various types of congenital heart disease (CHD). The most prevalent CHD in LVNC is Ebstein anomaly, which is a rare form of CHD characterized by apical displacement and partial fusion of the septal and posterior leaflet of the tricuspid valve with the ventricular septum. Several reports of sporadic as well as familial cases of Ebstein anomaly associated with LVNC have been reported. Recent studies identified mutations in the MYH7 gene, encoding the sarcomeric β-myosin heavy chain protein, in patients harboring this specific phenotype. Here, we will review the association between Ebstein anomaly, LVNC and mutations in MYH7, which seems to represent a subtype of Ebstein anomaly with autosomal dominant inheritance and variable penetrance. © 2013 Wiley Periodicals, Inc.

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