title: [Cardiac manifestations of amyloidosis by deposits of transthyretin and apolipoprotein A1. Report of 3 families].
abstract: Amyloidosis is characterised by extracellular deposits of a heterogenous protein. Compared with secondary forms, hereditary amyloidosis due to genetic mutations is rare. The authors report the cardiac manifestations in a French family of 5 sisters and 1 brother, three of whom presented with amyloidosis with deposits of transthyretin and apolipoprotein A1 due to a new genetic mutation.
authors.affiliation: Laboratoire d'échocardiographie, hôpital cardiologique Haut-Lévêque, Pessac.
authors.forename: S
authors.initials: S
authors.lastname: Lafitte
authors.forename: M
authors.initials: M
authors.lastname: Lafitte
authors.forename: J M
authors.initials: JM
authors.lastname: Perron
authors.forename: D
authors.initials: D
authors.lastname: Ennouchi
authors.forename: C
authors.initials: C
authors.lastname: Vital
authors.forename: R
authors.initials: R
authors.lastname: Roudaut
mesh_terms: D000328:Adult; D000686:Amyloidosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D016632:Apolipoprotein A-I / Q000235:genetics*; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D005602:France; D006331:Heart Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation; D011228:Prealbumin / Q000235:genetics*
chemical_list: D016632:Apolipoprotein A-I; D011228:Prealbumin