title: 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.
authors: Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy. Electronic address: e.arbustini@smatteo.pv.it.
authors: Eloisa
authors: E
authors: Arbustini
authors: Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.
authors: Valentina
authors: V
authors: Favalli
authors: Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy; Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota.
authors: Nupoor
authors: N
authors: Narula
authors: Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.
authors: Alessandra
authors: A
authors: Serio
authors: Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.
authors: Maurizia
authors: M
authors: Grasso
mesh_terms: D056352:Athletes; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D005820:Genetic Testing; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D016277:Ventricular Function, Left / Q000502:physiology*
keywords: congenital heart disease; genetic counseling; genetic testing; heart ventricles; mitochondrial myopathies; myocardium