| Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis. | |
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MedLine Citation:
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PMID: 22412233 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Michael G Fradley; Joseph V Thakuria; A Bernard Collins; Stephanie A Moore; James R Stone |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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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:
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Created Date: 2012-03-13 Completed Date: 2012-11-12 Revised Date: 2013-05-29 |
Medline Journal Info:
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Nlm Unique ID: 8214622 Medline TA: Tex Heart Inst J Country: United States |
Other Details:
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Languages: eng Pagination: 71-5 Citation Subset: IM |
Affiliation:
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Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA. mfradley@partners.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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0/Amyloid; 0/Prealbumin |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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