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  • Review Article
  • Published:

Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors

Nature Reviews Cardiology volume 14, pages 224–237 (2017)Cite this article

Subjects

Key Points

  • Patients with left ventricular hypertrabeculation (LVHT) should undergo evaluation for neuromuscular disorders, and patients with neuromuscular disorders should be screened for cardiac involvement

  • The minimal set of neurological investigations includes a thorough collection of individual and family history, a clinical exam, determination of creatine-kinase activity, and an electromyograph

  • Relatives of patients with LVHT should be screened for LVHT, with the same diagnostic work-up as for index patients with LVHT

  • Partially in accordance with guidelines for oral anticoagulation in patients with LVHT, we recommend oral anticoagulation if a patient has atrial fibrillation, severe heart failure, previous embolism, or intracardiac thrombus formation

  • Patients with LVHT require an implantable cardioverter–defibrillator if ventricular arrhythmias are recorded; if the family history is positive for sudden cardiac death, arrhythmias, or LVHT; or if late gadolinium enhancement is associated with systolic dysfunction

Abstract

Left ventricular hypertrabeculation (LVHT) or noncompaction is a myocardial abnormality of unknown aetiology, frequently associated with monogenic disorders, particularly neuromuscular disorders, or with chromosomal defects. LVHT is diagnosed usually by echocardiography by the presence of a bilayered myocardium consisting of a thick, spongy, noncompacted endocardial layer and a thin, compacted, epicardial layer. The pathogenesis of LVHT is unsolved, and the diagnostic criteria, prognosis, and optimal treatment of patients with LVHT are under debate. LVHT is categorized as distinct primary genetic cardiomyopathy by the AHA and as unclassified cardiomyopathy by the ESC. LVHT is usually asymptomatic, but can be complicated by heart failure, thromboembolism, or ventricular arrhythmias, including sudden cardiac death. Mortality of patients with LVHT ranges from 5% to 47%. Anticoagulation is indicated if atrial fibrillation, severe heart failure, previous embolism, or intracardiac thrombus formation are present. In patients with LVHT with late gadolinium enhancement, an implantable cardioverter–defibrillator might be considered if systolic dysfunction, a family history of sudden cardiac death, nonsustained ventricular tachycardia, or previous syncope is additionally present. In this Review, we discuss the current findings on the aetiology and pathophysiology of LVHT, and provide an overview of the diagnosis, available treatment, and prognosis of this cardiomyopathy.

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Figure 1
Figure 2: Left ventricular hypertrabeculation on transthoracic echocardiography and autopsy.
Figure 3: Left ventricular hypertrabeculation on cardiac MRI.

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Authors and Affiliations

  1. Krankenanstalt Rudolfstiftung, Postfach 20, Vienna, 1180, Austria

    Josef Finsterer

  2. Second Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Juchgasse 25, Vienna, 1030, Austria

    Claudia Stöllberger

  3. The Heart Institute, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, and St. Jude Children's Research Hospital, 51 N Dunlap Street #100, Memphis, 38105, Tennessee, USA

    Jeffrey A. Towbin

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J.F. wrote the manuscript. J.F., C.S., and J.A.T. researched data for the article, provided substantial contribution to the discussion of content, and reviewed and edited the manuscript before submission.

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Correspondence to Josef Finsterer.

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Finsterer, J., Stöllberger, C. & Towbin, J. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol 14, 224–237 (2017). https://doi.org/10.1038/nrcardio.2016.207

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