title: A family with 2 different hereditary diseases leading to early cardiac involvement.
abstract: Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD 1B) is caused by mutations in the LMNA gene. The disorder is associated with potentially fatal cardiac arrhythmias. Brugada syndrome (BS) is an autosomal dominant channelopathy linked to mutations in the SCN5A gene. BS is also associated with increased risk of sudden cardiac death. We reported a family in which a novel gene mutation, a missense mutation (c.80C>T) in exon 1 of the LMNA gene causing autosomal dominant LGMD 1B, occurred in association with SCN5A gene mutation causing BS. After the diagnosis of BS, 4 patients received implantable cardioverter-defibrillator therapy. Eight members of the family deceased at early age before the diagnosis. We emphasized the co-occurrence of 2 different conditions predisposing to sudden cardiac death: LGMD 1B caused by a novel mutation and BS.
authors.affiliation: Department of Neurology, Hospital de Faro, Faro, Portugal, UK. nzwalo@gmail.com
authors.forename: Hipólito
authors.initials: H
authors.lastname: Nzwalo
authors.forename: Isabel
authors.initials: I
authors.lastname: Conceição
authors.forename: Pedro
authors.initials: P
authors.lastname: Pereira
authors.forename: Rosário
authors.initials: R
authors.lastname: Santos
authors.forename: Teresinha
authors.initials: T
authors.lastname: Evangelista
mesh_terms: D000328:Adult; D053840:Brugada Syndrome / Q000150:complications* / Q000235:genetics*; D004252:DNA Mutational Analysis; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D005192:Family Health; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D008297:Male; D008875:Middle Aged; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications* / Q000235:genetics*; D009154:Mutation / Q000235:genetics / Q000276:immunology
chemical_list: D034904:Lamin Type A