Left Ventricular Noncompaction A Distinct Genetic Cardiomyopathy?

被引：186

作者：

Arbustini, Eloisa ^{[1
]}

Favalli, Valentina ^{[1
]}

Narula, Nupoor ^{[1
,2
]}

Serio, Alessandra ^{[1
]}

Grasso, Maurizia ^{[1
]}

机构：

[1] Univ Hosp Policlin San Matteo, IRCCS Fdn, Ctr Inherited Cardiovasc Dis, Piazzale Golgi 19, I-27100 Pavia, Italy

[2] Mayo Clin, Dept Internal Med, Rochester, MN USA

来源：

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY | 2016年 / 68卷 / 09期

关键词：

congenital heart disease; genetic counseling; genetic testing; heart ventricles; mitochondrial myopathies; myocardium; NON-COMPACTION CARDIOMYOPATHY; AMERICAN-HEART-ASSOCIATION; POLYCYSTIC KIDNEY-DISEASE; CARDIOLOGY WORKING GROUP; EXON; DELETION; DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; EUROPEAN-SOCIETY; TASK-FORCE; MOGE(S) CLASSIFICATION;

D O I：

10.1016/j.jacc.2016.05.096

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2016 by the American College of Cardiology Foundation.

引用

页码：949 / 966

页数：18

共 116 条

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