Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?

• Published in: Journal of the American College of Cardiology Vol. 68; no. 9; pp. 949 - 966
• Main Authors: Arbustini, Eloisa, Favalli, Valentina, Narula, Nupoor, Serio, Alessandra, Grasso, Maurizia
• Format: Journal Article
• Language: English
• Published: United States Elsevier Limited 30.08.2016
• Subjects: Athletes; Blood diseases; Cardiac arrhythmia; Cardiology; Cardiomyopathies - diagnosis; Cardiomyopathies - genetics; Cardiomyopathies - physiopathology; Cardiomyopathy; Cardiovascular disease; Congenital diseases; Diagnosis, Differential; Family medical history; Genetic counseling; Genetic Testing; Heart; Humans; Hypotheses; Isolated Noncompaction of the Ventricular Myocardium - diagnosis; Isolated Noncompaction of the Ventricular Myocardium - genetics; Isolated Noncompaction of the Ventricular Myocardium - physiopathology; Medical imaging; Morphology; Ratios; Ventricular Function, Left - physiology; genetic counseling; congenital heart disease; heart ventricles; myocardium; mitochondrial myopathies; genetic testing
• ISSN: 0735-1097; 1558-3597; 1558-3597
• DOI: 10.1016/j.jacc.2016.05.096

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.