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Noncompaction Cardiomyopathy, a Novel Clinical Entity (Historical Perspective)

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Noncompaction Cardiomyopathy

Abstract

Initially, the abnormal myocardial morphology with a typical spongy pattern has been described in newborns and infants, based on necropsy findings in cases with complex congenital heart disease. Only after introduction of echocardiography, a breakthrough in the ante mortem diagnosis has been achieved, increasing the awareness of the disease.

It was in 1984, when the first isolated case with this abnormal myocardial pattern was published, presenting the ante mortem diagnosis by echocardiography for the first time. A subsequent publication in 1986 confirmed the result of the initial report. Both studies used the term “persistence of isolated myocardial sinusoids”, recognizing the persistence of embryonic myocardial morphology found in the absence of other cardiac anomalies. In 1990, the term “isolated noncompaction of left ventricular myocardium” was introduced, assuming that this disease was due to an arrest of the normal compaction process during endomyocardial morphogenesis. But new data suggest, that no real compaction process may be present during normal cardiac development. In case of left ventricular noncompaction it was observed, that the excessive trabeculations did not have the identity of the normal embryonic trabeculations, suggesting, that noncompaction may not be the result of a failure in a compaction process but instead results from the compacted myocardium of the ventricular wall, growing into the ventricular lumen in a trabecular fashion.

However, a lot of evidence exists, that the complex developmental processes of the heart are genetically regulated and the myocardial patterns of left ventricular noncompaction may occur as a mutation based failure of normal endomyocardial morphogenesis. Current data suggest, that in future, genetic testing may allow to distinguish a non-genetic phenotype of left ventricular noncompaction (LVNC) from genetic noncompaction cardiomyopathy (NCCM), thus improving adequate risk stratification and proper management.

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Authors and Affiliations

  1. Internal Medicine and Cardiology, amO MVZ Wolfsburg, Wolfsburg, Germany

    Rolf Engberding

  2. Clinic for Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany

    Birgit Gerecke

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  1. Rolf Engberding
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  2. Birgit Gerecke
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Editors and Affiliations

  1. Erasmus MC University Medical Center, Department of Cardiology, Rotterdam, The Netherlands

    Kadir Caliskan

  2. Erasmus MC University Medical Center, The Thoraxcenter, Rotterdam, The Netherlands

    Osama I. Soliman

  3. Erasmus MC University Medical Center, Department of Cardiology, Rotterdam, The Netherlands

    Folkert J. ten Cate

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Engberding, R., Gerecke, B. (2019). Noncompaction Cardiomyopathy, a Novel Clinical Entity (Historical Perspective). In: Caliskan, K., Soliman, O., ten Cate, F. (eds) Noncompaction Cardiomyopathy. Springer, Cham. https://doi.org/10.1007/978-3-030-17720-1_1

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