May 1, 2009
View Full PaperLeft ventricular noncompaction
Key Result
Up to 50% of adult patients with left ventricular noncompaction have mutations in genes encoding proteins of the cardiac sarcomere.
Structured PICO
P
Population
Patients with isolated left ventricular noncompaction (LVNC)
This review highlights that LVNC is increasingly diagnosed and often associated with sarcomere gene mutations, suggesting it may represent a new disease paradigm related to dilated and hypertrophic cardiomyopathies.
Limitations
- Limitations of current diagnostic criteria
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.