title: A patient with ventricular tachycardia due to a novel mutation of the lamin A/C gene: case presentation and mini review.
abstract: Lamin A/C is a major constituent of the nuclear lamina, the proteinaceous meshwork underlying the inner nuclear membrane. Laminopathies are a group of diseases with heterogeneous clinical presentation. Lamin A/C mutations are a well-established cause of dilated cardiomyopathy. In our case, a novel mutation of lamin A/C presented in the typical form of cardiolaminopathy with ventricular tachycardia and mild myocardial dysfunction in an apparently healthy, middle-aged individual.
authors.affiliation: Department of Cardiology, 251 Air Force General Hospital, Athens, Greece. krgds@yahoo.com
authors.forename: Georgios
authors.initials: G
authors.lastname: Kourgiannidis
authors.forename: Aris
authors.initials: A
authors.lastname: Anastasakis
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Lampropoulos
authors.forename: Themistoklis
authors.initials: T
authors.lastname: Iliopoulos
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D017180:Tachycardia, Ventricular / Q000150:complications / Q000235:genetics* / Q000378:metabolism
chemical_list: D034904:Lamin Type A; D004247:DNA