Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?

Eloisa Arbustini, Valentina Favalli, Nupoor Narula, Alessandra Serio, Maurizia Grasso

Research output: Contribution to journalReview articlepeer-review

Abstract

Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized by prominent left ventricular (LV) trabeculae, a thin compacted layer, and deep intertrabecular recesses. Individual variability is extreme, and trabeculae represent a sort of individual “cardioprinting.” By itself, the diagnosis of LVNC does not coincide with that of a “cardiomyopathy” because it can be observed in healthy subjects with normal LV size and function, and it can be acquired and is reversible. Rarely, LVNC is intrinsically part of a cardiomyopathy; the paradigmatic examples are infantile tafazzinopathies. When associated with LV dilation and dysfunction, hypertrophy, or congenital heart disease, the genetic cause may overlap. The prevalence of LVNC in healthy athletes, its possible reversibility, and increasing diagnosis in healthy subjects suggests cautious use of the term LVNC cardiomyopathy, which describes the morphology but not the functional profile of the cardiomyopathy.

Original languageEnglish
Pages (from-to)949-966
Number of pages18
JournalJournal of the American College of Cardiology
Volume68
Issue number9
DOIs
Publication statusPublished - Aug 30 2016

Keywords

  • congenital heart disease
  • genetic counseling
  • genetic testing
  • heart ventricles
  • mitochondrial myopathies
  • myocardium

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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