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Cardiac conduction alterations in a French family with amyloidosis of the finnish type with the p.Asp187Tyr mutation in the GSN gene
Author(s) -
Chastan Nathalie,
BaertDesurmont Stéphanie,
SaugierVeber Pascale,
Dérumeaux Geneviève,
Cabot Annick,
Frébourg Thierry,
Hannequin Didier
Publication year - 2006
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20448
Subject(s) - amyloidosis , mutation , medicine , phenotype , genetics , cardiac amyloidosis , pathology , endocrinology , gene , biology
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. Muscle Nerve, 2006