title: Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene.
abstract: Familial amyloidosis of the Finnish type (FAF) is a rare autosomal-dominant disorder caused by the accumulation of a 71-amino acid amyloidogenic fragment of mutant gelsolin, an actin-modulating protein. The main symptoms include corneal lattice dystrophy, progressive cranial and peripheral neuropathy, and skin changes. To date, only two mutations in the GSN gene have been described: the p.Asp187Asn mutation in most patients and the p.Asp187Tyr mutation in a Danish and Czech family. We report on the third family with the p.Asp187Tyr mutation and the first French FAF family. Severe cardiac conduction alterations in three patients were mainly caused by cardiac sympathetic denervation. These findings demonstrate the cardiological involvement of the FAF phenotype and suggest that cardiological follow-up is required in FAF patients.
authors.affiliation: Département de Neurologie, CHU de Rouen, 76031 Rouen, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Chastan
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Baert-Desurmont
authors.forename: Pascale
authors.initials: P
authors.lastname: Saugier-Veber
authors.forename: Geneviève
authors.initials: G
authors.lastname: Dérumeaux
authors.forename: Annick
authors.initials: A
authors.lastname: Cabot
authors.forename: Thierry
authors.initials: T
authors.lastname: Frébourg
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
mesh_terms: D000368:Aged; D028226:Amyloidosis, Familial / Q000175:diagnosis / Q000235:genetics*; D001145:Arrhythmias, Cardiac / Q000235:genetics* / Q000503:physiopathology; D001224:Aspartic Acid / Q000737:chemistry / Q000235:genetics; D019066:Facies; D005602:France; D018260:Gelsolin / Q000235:genetics*; D006329:Heart Conduction System / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D014059:Tongue / Q000002:abnormalities; D014443:Tyrosine / Q000737:chemistry / Q000235:genetics
chemical_list: D018260:Gelsolin; D001224:Aspartic Acid; D014443:Tyrosine