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Left Ventricular Noncompaction

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Book cover Clinical Cardiogenetics

Abstract

LVNC is a relatively new, genetically heterogeneous, cardiomyopathy. Clinical presentation and prognosis range from asymptomatic disease with no or slow progression, to severe disabling, rapidly progressive cardiac failure. Initial presentation includes the triad of heart failure (potentially lethal) arrhythmias and/or thrombo-embolism. LVNC may occur at all ages, even prenatally. In childhood, clinical features are often more severe and LVNC is frequently associated with congenital heart defects. In adults, the majority of LVNC is isolated. The echocardiographic diagnostic criteria as proposed by Jenni et al. are currently the most widely applied. General cardiac guidelines for chronic heart failure and ICDs are applicable to the LVNC population. In approximately 40 % of isolated LVNC, molecular testing may yield a genetic (mostly sarcomere) defect, with MYH7 as the most prevalent disease gene. The nonisolated forms of LVNC are caused by a range of rare genetic defects. Until now, in half of familial isolated LVNC, the genetic defect remains unknown. Genetic defects in a large number of sarcomere and other cardiomyopathy genes and in genes primarily associated with skeletal myopathies indicate that LVNC may result from a wide range of pathophysiologic mechanisms. Shared genetic defects and familial aggregation of LVNC, HCM, and DCM indicates that LVNC may be part of a broad spectrum of cardiomyopathies. The genetic etiology of LVNC requires that patients and their relatives are offered genetic testing and counseling. This may include (predictive) molecular analysis of relatives, when applicable, and/or cardiac evaluation of at-risk relatives, even when they are as yet asymptomatic.

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Acknowledgments

The authors thank Kadir Calsikan and Danielle Majoor-Krakauer for their work on the first edition of this chapter.

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Authors and Affiliations

  1. Department of Clinical Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands

    Yvonne M. Hoedemaekers

  2. Department of Paediatric Cardiology, Charité University Medicine, Berlin, Germany

    Sabine Klaassen

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  2. Sabine Klaassen
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Correspondence to Yvonne M. Hoedemaekers .

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  1. Department of Cardiology, St. Elisabeth-TweeSteden Ziekenhuis, Tilburg, The Netherlands

    Hubert F. Baars

  2. Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands

    Pieter A. F. M. Doevendans

  3. Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

    Arjan C. Houweling

  4. Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands

    J. Peter van Tintelen

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Hoedemaekers, Y.M., Klaassen, S. (2016). Left Ventricular Noncompaction. In: Baars, H., Doevendans, P., Houweling, A., van Tintelen, J. (eds) Clinical Cardiogenetics. Springer, Cham. https://doi.org/10.1007/978-3-319-44203-7_7

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