Left Ventricular Noncompaction : A Distinct Genetic Cardiomyopathy?

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.

Key Words

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

Abbreviations and Acronyms

  • AFDAnderson-Fabry disease
  • ARVCarrhythmogenic right ventricular cardiomyopathy
  • CHDcongenital heart disease
  • CMPcardiomyopathy
  • CMRcardiac magnetic resonance
  • DCMdilated cardiomyopathy
  • DMDDuchenne muscular dystrophy
  • HCMhypertrophic cardiomyopathy
  • iLVNCisolated left ventricular noncompaction
  • LVleft ventricular
  • LVNCleft ventricular noncompaction
  • MtDNA,mitochondrial deoxyribonucleic acid
  • NCnoncompaction
  • RCMrestrictive cardiomyopathy
  • RYR2ryanodine receptor 2

This study was supported by grants from the European Union INHERITANCE project #241924 and by the Italian Ministry of Health “Diagnosis and Treatment of Hypertrophic Cardiomyopathies” (#RF-PSM-2008-1145809) to Dr. Arbustini, IRCCS Policlinico San Matteo, Pavia; E-Rare Project 2014 OSM–Dilated Cardiomyopathies to Dr. Serio; and MAGICA (Malattie Genetiche Cardiovascolari) Onlus Charity. The authors have reported that they have no relationships relevant to the contents of this paper to disclose.

Listen to this manuscript's audio summary by JACC Editor-in-Chief Dr. Valentin Fuster.

Reprint requests and correspondence: Dr. Eloisa Arbustini, Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Piazzale Golgi 19, 27100 Pavia, Italy.

Autor / Fonte:Eloisa Arbustini, Valentina Favalli, Nupoor Narula, Alessandra Serio, Maurizia Grasso Journal of the American College of Cardiology 2016 August 30, 68 (9): 949-66
Link: http://www.sciencedirect.com/science/article/pii/S0735109716344813