Background: Left ventricular noncompaction (LVNC) is the third most common pediatric
cardiomyopathy characterized by a thinned myocardium and prominent trabeculations. Next-
generation genetic testing has led to a rapid increase in the number of genes reported to be
associated with LVNC, but we still have little understanding of its pathogenesis. We sought
to grade the strength of the gene-disease relationship for all genes reported to be
associated with LVNC and identify molecular pathways that could be implicated. Methods …

Purpose The purpose of this study was to investigate patients with Left ventricular
noncompaction (LVNC) for mutations and investigate the role of SCN5A variants as
phenotypic modifiers. Methods We investigated 121 Japanese LVNC patients, including 47
familial cases and 74 sporadic cases, by direct DNA sequencing of genes previously
associated with LVNC, including LIM domain binding protein 3 (LCB3/ZASP), α-dystrobrevin
(DTNA), and tafazzin (TAZ/G4. 5), genes encoding the sarcomeric proteins myosin binding …