Abstract
Left ventricle non-compaction cardiomyopathy (LVNC) has gained great interest in recent years, being one of the most controversial cardiomyopathies. There are several open debates, not only about its genetic heterogeneity, or about the possibility to be an acquired cardiomyopathy, but also about its possible overdiagnosis based on imaging techniques. In order to better understand this entity, we identified 38 LVNC patients diagnosed by cardiac MRI (CMRI) or anatomopathological study that could underwent NGS-sequencing and clinical study. Anatomopathological exam was performed in eight available LVNC hearts. The genetic yield was 34.2%. Patients with negative genetic testing had better left ventricular ejection fraction (LVEF) or it showed a tendency to improve in follow-up, and a possible trigger factor for LVNC was identified in 1/3 of them. Nonetheless, cerebrovascular accidents occurred in similar proportions in both groups. We conclude that in LVNC there seem to be different ways to achieve the same final phenotype. Genetic testing has a good genetic yield and provides valuable information. LVNC without an underlying genetic cause may have a better prognosis in terms of LVEF evolution. However, anticoagulation to prevent cerebrovascular accident (CVA) should be carefully evaluated in all patients. Larger series with pathologic examination are needed to help better understand this entity.
Highlights
Left ventricular (LV) non-compaction (LVNC) is characterized by prominent myocardial trabeculations in a thick, non-compacted layer adjacent to a thin compacted layer
There has been a classical division between isolated Left ventricle non-compaction cardiomyopathy (LVNC) [12,13] and LVNC associated with significant congenital heart defects (CHD) [14,15,16]
Apart from that, histopathological exam was performed in all available LVNC hearts, including those patients who had died without the possibility of a genetic test
Summary
Left ventricular (LV) non-compaction (LVNC) is characterized by prominent myocardial trabeculations in a thick, non-compacted layer adjacent to a thin compacted layer. The American Heart Association classified LVNC as a distinct primary cardiomyopathy with a genetic aetiology [1]. There is a raising concern about sensitivity and specificity of TTE criteria, and whether, LVNC may be overdiagnosed [22,23]. Intrafamilial phenotypic variability, including LVNC, hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy (DCM), may suggest that these cardiomyopathies could be part of a broader cardiomyopathy spectrum [29,30,31]. In this context, genetics play an important role. The aim of the current investigation was to provide a comprehensive clinical view of LVNC based on genetic and anatomopathological information
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