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. 2020 Aug 5;9(8):2524.
doi: 10.3390/jcm9082524.

Characterization of Left Ventricular Non-Compaction Cardiomyopathy

Rebeca Lorca  1   2 , María Martín  1   2 , Isaac Pascual  1   2   3 , Aurora Astudillo  3   4 , Beatriz Díaz Molina  1   2 , Helena Cigarrán  5 , Elías Cuesta-Llavona  1   2 , Pablo Avanzas  1   2   3 , José Julían Rodríguez Reguero  1   2 , Eliecer Coto  1   2   3 , César Morís  1   2   3 , Juan Gómez  1   2
Affiliations

Characterization of Left Ventricular Non-Compaction Cardiomyopathy

Rebeca Lorca et al. J Clin Med. .

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.

Keywords: cardiac magnetic resonance; genetics; left ventricle non-compaction cardiomyopathy; non-ischemic cardiomyopathy.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Transplanted patient with isolated left ventricle non-compaction cardiomyopathy diagnosed by CMRI and confirmed by anatomopathological examination. Panel (A) Transversal slides of the explanted heart. (B) Spheroidal shape of the transplanted heart. (C) Apical 4 chamber view in TTE. (D) Parasternal short axis in TTE. (E) LVNC in CMRI.
Figure 2
Figure 2
Pedigree of families with LVNC. Fam., family; SD, sudden death; PM, pacemaker; LVNC, left ventricular non-compaction; DCM, dilated cardiomyopathy: HCM, hypertrophic cardiomyopathy. Symbols denote sex and disease status: +, carriers; −, non-carriers; without sign, not studied; box, male; circle, female; darkened, phenotype of hypertrophic cardiomyopathy; symbol clear, unaffected; ?, unknown phenotype; slashed, deceased; without sign, not genetically studied; arrow, proband. Age of deceased or PM implantation in brackets.
Figure 3
Figure 3
Left ventricle systolic function evolution in follow-up. Group 1, LVNC with pathogenic or likely pathogenic variants; Group 2, LVNC with benign or likely benign variants. Red colour, severely depressed LVEF; yellow, moderately depressed LVEF, bright blue, slightly depressed LVEF; dark blue, normal LVEF.
Figure 4
Figure 4
Microscopic haematoxylin/eosin samples (×40) from LVNC explanted hearts. Panel (A) myocyte cellular hypertrophy (delimited by arrows); (B) deformed nuclear cardiomyocyte shapes.
See this image and copyright information in PMC

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