title: [A novel lamin A/C mutation in a family with dilated cardiomyopathy and a strong history of sudden cardiac death].
abstract: Diseases related to lamin A/C mutations (laminopathies) are extremely heterogeneous. The common cardiac phenotype is idiopathic dilated cardiomyopathy with atrioventricular block and/or arrhythmias. Moreover, patients with lamin A/C gene mutations are at increased risk for sudden cardiac death. Here we present a family with a strong positive history of sudden cardiac death in presence of idiopathic dilated cardiomyopathy and cardiac conduction abnormalities, related to a novel lamin A/C mutation in exon 3.
authors.affiliation: UO Ricerca Genetica, Istituto di Fisiologia Clinica CNR e Fondazione G. Monasterio, Regione Toscana, Pisa e Massa. mariagrazia.andreassi@ifc.cnr.it
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Andreassi
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Botto
authors.forename: Simona
authors.initials: S
authors.lastname: Vittorini
authors.forename: Silvia
authors.initials: S
authors.lastname: Pulignani
authors.forename: Giovanni
authors.initials: G
authors.lastname: Aquaro
authors.forename: Rosa
authors.initials: R
authors.lastname: Sicari
mesh_terms: D000368:Aged; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology; D004452:Echocardiography; D015716:Electrocardiography, Ambulatory; D005260:Female; D005820:Genetic Testing; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: D000806:Angiotensin-Converting Enzyme Inhibitors; C494847:LMNA protein, human; D034904:Lamin Type A