Document Detail

Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants.
MedLine Citation:
PMID:  16194874     Owner:  NLM     Status:  MEDLINE    
We report two new amyloidogenic transthyretin (TTR) variants detected in the Swedish population. One variant was previously unknown, while the other has been described in a French family. In Swedish patients, both variants have caused late-onset cardiac amyloidosis characterised by heart failure. In both cases, the diagnosis was determined by the detection of amyloid deposits in skin and/or rectal biopsies and identification of TTR mutations by genetic analysis. The index case of the previously unknown mutation (ATTR His88Arg) was a 66-year-old Swedish man, who sought medical attention for increasing dyspnea. Echocardiographic examination disclosed a restrictive cardiomyopathy, and subsequent examinations disclosed TTR amyloidosis. The patient is alive with moderate symptoms one year after the onset of disease. The index case for the new Swedish mutation (ATTR Gly53Glu) is a woman who sought medical attention at the age of 57 because of increasing dyspnea. Echocardiographic examination disclosed a hypertrophic cardiomyopathy with diastolic impairment. The diagnosis of systemic amyloidosis was made by fat aspiration biopsy and histopathology. The patient developed severe intractable heart failure, with pulmonary effusion and ascites. She died four years after the onset of her disease of intractable heart and kidney failure. Post mortem examination of biopsy specimens and blood revealed TTR amyloid deposits and the ATTR Gly53Glu mutation was detected.
Gösta Holmgren; Urban Hellman; Intissar Anan; Hans-Eric Lundgren; Jenni Jonasson; Christina Stafberg; Sämi Fahoum; Ole B Suhr
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis     Volume:  12     ISSN:  1350-6129     ISO Abbreviation:  Amyloid     Publication Date:  2005 Sep 
Date Detail:
Created Date:  2005-09-30     Completed Date:  2008-03-07     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9433802     Medline TA:  Amyloid     Country:  United States    
Other Details:
Languages:  eng     Pagination:  184-8     Citation Subset:  IM    
Department of Medical Biosciences, Unit for Medical and Clinical Genetics, Umeå University Hospital, Sweden.
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MeSH Terms
Adipose Tissue / chemistry,  pathology
Arginine / genetics
Cardiomyopathies / genetics*,  metabolism,  pathology
Chromatography, High Pressure Liquid
Colon / chemistry,  pathology
DNA Mutational Analysis
Genetic Variation*
Glutamic Acid / genetics
Glycine / genetics*
Histidine / genetics*
Middle Aged
Prealbumin / genetics*
Reg. No./Substance:
0/Prealbumin; 56-40-6/Glycine; 56-86-0/Glutamic Acid; 71-00-1/Histidine; 74-79-3/Arginine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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