title: Left ventricular noncompaction in a family with lamin A/C gene mutation.
abstract: 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.
authors: John J
authors: JJ
authors: Parent
authors: Jeffrey A
authors: JA
authors: Towbin
authors: John L
authors: JL
authors: Jefferies
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D018618:Echocardiography, Doppler, Color; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D005819:Genetic Markers; C494847:LMNA protein, human; D034904:Lamin Type A
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