Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy

Left ventricular noncompaction cardiomyopathy (LVNC) is a myocardial disorder characterized by prominent and excessive trabeculations with deep recesses in the ventricular wall. Clinical manifestations of LVNC are highly variable, ranging from no symptoms to arrhythmias, heart failure, thromboembolism, or even sudden cardiac death. It is a heterogenetic disease which can be presented as an autosomal, X-linked or mitochondrial disorder. A series of candidate mutations have been identified in LVNC patients or murine models. It is generally believed that these gene mutations may share a final common pathway in the pathogenesis of LVNC, but the underlying molecular mechanisms are unknown. In this review, we discuss the gene mutations identified in LVNC patients and summarize recent advancements in the molecular genetic analysis of LVNC.