Left ventricular noncompaction: a distinct cardiomyopathy or a composite anatomical syndrome?

Kardiologiia. 2018 Dec 14;58(11S):33-45. doi: 10.18087/cardio.2558.
[Article in Russian]

Abstract

Left ventricular non-compaction (LVNC) is characterized by hypertrabecularity (thickened non-compact layer) with deep intertrabecular recesses that are continuous with the ventricle cavity, and a thin compact layer. The phenotypes of LVNС are extremely variable: the left or right ventricular variant, biventricular form, LVNC with symptoms of heart failure or arrhythmia, asymptomatic forms or variants with thromboembolic events. In 30-50 % of patients with LVNC genetic mutations of genes encoding sarcomeric or cytoskeletal proteins are revealed by a genetic study. The article presents a literature review on the problems of diagnosis, visualization, pathogenesis, variability of clinical manifestations of LVNC and its genetic heterogeneity. Clinical cases demonstrating LVNC as a concomitant anatomical syndrome due to monogenic Danone disease, as well as the family cardiomyopathy with the digenic inheritance of two phenotypes (LVNC with DCM) and the unique case of peripartum evolution of the acquired LVNC syndrome, all these cases are reflect the current uncertainty regarding to the pathogenesis and significance of LVNC. The main question is whether LVNC is a distinct cardiomyopathy or a morphologic trait and a composite anatomical syndrome of congenital heart disease or other cardiomyopathies (DCM, HCM, ARVC) remains controversial. Achievement of professional consensus guidelines about unification of diagnostic criteria and risk-stratification of LVNC, improvement of visualization tools and expansion of genetic testing will help to significantly expand our knowledge and understanding of the pathogenesis, clinical significance and prognosis of LVNC for optimization of the treatment strategy.

Publication types

  • Review

MeSH terms

  • Cardiomyopathies*
  • Heart Defects, Congenital*
  • Heart Ventricles
  • Humans
  • Mutation
  • Syndrome