Antonios A Pantazis1, Perry M Elliott. 1. The Heart Hospital, University College London/University College London Hospital, London W1G 8PH, UK.
Abstract
PURPOSE OF REVIEW: Isolated left ventricular noncompaction (LVNC) is a myocardial disorder characterized by excessive and prominent trabeculations of the left ventricle, associated with progressive systolic failure, stroke and arrhythmia. Until quite recently, LVNC was thought to be extremely rare, but, with greater awareness of the disease and improvements in echocardiographic technology, there has been a dramatic increase in the frequency of diagnosis. Recent studies suggest that the frequency of LVNC is determined in part by the diagnostic criteria used. RECENT FINDINGS: Up to 50% of adult patients with LVNC have mutations in genes encoding proteins of the cardiac sarcomere, suggesting that LVNC might represent a new disease paradigm in which mutations that more typically cause dilated and hypertrophic cardiomyopathies result in abnormal ventricular morphogenesis. SUMMARY: In this review, we briefly summarize current clinical literature on LVNC, with a particular focus on the limitations of current diagnostic criteria and emerging data on the genetics of the disorder.
PURPOSE OF REVIEW: Isolated left ventricular noncompaction (LVNC) is a myocardial disorder characterized by excessive and prominent trabeculations of the left ventricle, associated with progressive systolic failure, stroke and arrhythmia. Until quite recently, LVNC was thought to be extremely rare, but, with greater awareness of the disease and improvements in echocardiographic technology, there has been a dramatic increase in the frequency of diagnosis. Recent studies suggest that the frequency of LVNC is determined in part by the diagnostic criteria used. RECENT FINDINGS: Up to 50% of adult patients with LVNC have mutations in genes encoding proteins of the cardiac sarcomere, suggesting that LVNC might represent a new disease paradigm in which mutations that more typically cause dilated and hypertrophic cardiomyopathies result in abnormal ventricular morphogenesis. SUMMARY: In this review, we briefly summarize current clinical literature on LVNC, with a particular focus on the limitations of current diagnostic criteria and emerging data on the genetics of the disorder.
Authors: Jin Li; Jennifer Franke; Regina Pribe-Wolferts; Benjamin Meder; Philipp Ehlermann; Derliz Mereles; Florian Andre; Mohamed Assem Abdelrazek; Constanze Merten; Patrick A Schweizer; Rüdiger Becker; Hugo A Katus; Dierk Thomas Journal: Clin Res Cardiol Date: 2014-10-21 Impact factor: 5.460