Cardiac amyloidosis associated with the transthyretin Ile122 mutation in a Caucasian family

The Ile 122 transthyretin variant associated with restrictive cardiomyopathy has been described in African-Americans and estimated to be present in approximately 4% of the Black population. We report the first American-Caucasian family with cardiomyopathy due to the TTR lie122 mutation. The high pre...

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Bibliographic Details
Published in:Amyloid 2001, Vol.8 (4), p.263-269
Main Authors: Asl, Kamran Hamidi, Nakamura, Masaaki, Yamashita, Taro, Benson, Merrill D.
Format: Article
Language:English
Subjects:
Aged
amyloid
Amyloidosis, Familial - diagnosis
Amyloidosis, Familial - genetics
Base Sequence
Cardiomyopathies - diagnosis
Cardiomyopathies - genetics
cardiomyopathy
Cardiomyopathy, Restrictive - diagnosis
Cardiomyopathy, Restrictive - genetics
DNA - genetics
DNA Mutational Analysis
European Continental Ancestry Group - genetics
Female
genes
Genes, Dominant
Haplotypes - genetics
heart failure
Humans
Male
Pedigree
Point Mutation
Polymorphism, Restriction Fragment Length
Polymorphism, Single-Stranded Conformational
Prealbumin - genetics
transthyretin
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Summary:The Ile 122 transthyretin variant associated with restrictive cardiomyopathy has been described in African-Americans and estimated to be present in approximately 4% of the Black population. We report the first American-Caucasian family with cardiomyopathy due to the TTR lie122 mutation. The high prevalence of this mutation in the Black population and the discovery that it may cause disease in other ethnic populations highlights the importance of considering this autosomal dominant systemic amyloidosis in all individuals with restrictive cardiomyopathy. Inadequate diagnosis combined with inappropriate treatment may have a significant impact on morbidity and mortality.
ISSN:1350-6129
1744-2818
DOI:10.3109/13506120108993823