A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis

A sixty-three year old French man presented with isolated late-onset amyloid cardiomyopathy proven by endomyocardial biopsy. There was no known family history of amyloidosis. Immunohistochemistry of cardiac deposits suggested that amyloi fibrils were derived from transthyretin. DNA sequencing reveal...

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Bibliographic Details
Published in:Amyloid 1998, Vol.5 (4), p.285-287
Main Authors: Dupuy, Olivier, Blétry, Olivier, Blanc, Anne-Sophie, Droz, Dominique, Viémont, Michèle, Delpech, Marc, Grateau, Gilles
Format: Article
Language:English
Subjects:
Age of Onset
Amino Acid Substitution
Amyloidosis - genetics
Aspartic Acid - genetics
Base Sequence
cardiomyopathy
DNA
Glutamic Acid - genetics
Heart Diseases - genetics
Humans
Immunohistochemistry
Male
Middle Aged
Polymerase Chain Reaction
Prealbumin - chemistry
Prealbumin - genetics
Transthyretin amyloidosis
transthyretin gene mutation
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Summary:A sixty-three year old French man presented with isolated late-onset amyloid cardiomyopathy proven by endomyocardial biopsy. There was no known family history of amyloidosis. Immunohistochemistry of cardiac deposits suggested that amyloi fibrils were derived from transthyretin. DNA sequencing revealed a point mutation in exon 2 of the transthyretin gene responsible for a novel amyloidogenic variant Asp42.
ISSN:1350-6129
1744-2818
DOI:10.3109/13506129809007302