Left ventricular noncompaction is a rare type of cardiomyopathy, the genetics of which are poorly understood to date. Lamin A/C gene mutations have been associated with dilated cardiomyopathy and diseases of the conduction system, but rarely in left ventricular noncompaction cardiomyopathy. This report describes the cases of 4 family members with a lamin A/C gene mutation, 3 of whom had phenotypic expression of left ventricular noncompaction.
Keywords: Arginine/genetics; cardiomyopathies/genetics; cysteine/genetics; echocardiography; genetic testing; genotype; lamin C/genetics; lamin type A/genetics; laminopathy; left ventricular noncompaction; magnetic resonance imaging; mutation; pedigree; phenotype; proteins/genetics.