[Cardiac manifestations of amyloidosis by deposits of transthyretin and apolipoprotein A1. Report of 3 families].
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.
Lafitte
S
S
Laboratoire d'échocardiographie, hôpital cardiologique Haut-Lévêque, Pessac.
Lafitte
M
M
Perron
J M
JM
Ennouchi
D
D
Vital
C
C
Roudaut
R
R
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*
D016632:Apolipoprotein A-I; D011228:Prealbumin