Document Detail


Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis.
MedLine Citation:
PMID:  22412233     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Multiple precursor proteins have been shown to cause cardiac amyloidosis. The most common forms are due either to immunoglobulin light chains or to transthyretin proteins (either wild-type or mutant forms). Correct subclassification of the amyloid is paramount because treatment differs in accordance with the type of amyloidosis. Indirect diagnostic methods, including serologic analysis, can lead to misdiagnosis. Definitive diagnosis often requires analysis of amyloid in the tissue. We present a case of a woman who was diagnosed with hereditary transthyretin cardiac amyloidosis by means of immunofluorescence and genetic analysis. This case highlights the importance-in the diagnostic algorithm of cardiac amyloidosis-of direct evaluation of the tissue with immunofluorescence and of genetic testing.
Authors:
Michael G Fradley; Joseph V Thakuria; A Bernard Collins; Stephanie A Moore; James R Stone
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital     Volume:  39     ISSN:  1526-6702     ISO Abbreviation:  Tex Heart Inst J     Publication Date:  2012  
Date Detail:
Created Date:  2012-03-13     Completed Date:  2012-11-12     Revised Date:  2013-06-26    
Medline Journal Info:
Nlm Unique ID:  8214622     Medline TA:  Tex Heart Inst J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  71-5     Citation Subset:  IM    
Affiliation:
Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA. mfradley@partners.org
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MeSH Terms
Descriptor/Qualifier:
Aged
Amyloid / chemistry*
Amyloidosis, Familial / diagnosis*,  genetics,  metabolism,  therapy
Biopsy
Cardiomyopathies / diagnosis*,  genetics,  metabolism,  therapy
DNA Mutational Analysis*
Echocardiography
Female
Fluorescent Antibody Technique*
Humans
Magnetic Resonance Imaging
Mutation*
Myocardium / chemistry*,  pathology
Prealbumin* / analysis,  genetics
Predictive Value of Tests
Chemical
Reg. No./Substance:
0/Amyloid; 0/Prealbumin
Comments/Corrections

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


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