Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy

Abstract

Isolated noncompaction of the ventricular myocardium (INVM) sometimes referred to as spongy myocardium is a rare, congenital and also acquired cardiomyopathy. It appears to divide the presentation into neonatal, childhood and adult forms of which spongy myocardium and systolic dysfunction is the commonality. The disorder is characterized by a left ventricular hypertrophy with deep trabeculations, and with diminished systolic function, with or without associated left ventricular dilation. In half or more of the cases, the right ventricle is also affected. The sporadic type, however, in some patients, may be due to chromosomal abnormalities and the occurrence of familial incidence. Isolated noncompaction of the left ventricular myocardium in the majority of adult patients is an autosomal dominant disorder. The familial and X-linked disorders have been described by various authors. We here describe the genetic background of this disorder: some of the most mutated genes that are responsible for the disease are (G4.5 (tafazzin gene): alpha-dystrobrevin gene (DTNA); FKBP-12 gene; lamin A/C gene; Cypher/ZASP (LIM, LDB3) gene); and some genotype-phenotype correlations (Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy or Barth syndrome) based on the literature review.