| Sisters with atypical Fabry's disease with complete atrioventricular block. | |
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MedLine Citation:
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PMID: 12482812 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 56 year old woman with severe right heart failure and complete atrioventricular block was referred to hospital for further examination. Symptoms and signs suggestive of Fabry's disease, such as corneal opacities, acroparaesthesias, hypohidrosis, and angiokeratoma, were not noted. Echocardiography showed a diffuse hypertrophic left ventricular wall and paradoxical movement of the interventricular septum. Cardiac catheterisation showed restrictive-type ventricular dysfunction. Left ventricular endomyocardial biopsy showed central vacuolar degeneration of myocytes with inclusion bodies, which had a concentric lamellar configuration under electron microscopy. This finding is specific for Fabry's disease. The patient's elder sister had experienced an almost identical clinical course and histological findings of myocardial cells on necropsy. In conclusion, two sisters were encountered displaying interesting cases of atypical Fabry's disease. Symptoms began with complete atrioventricular block and histological myocardial findings were specific for Fabry's disease. |
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Authors:
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Y Doi; G Toda; K Yano |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Heart (British Cardiac Society) Volume: 89 ISSN: 1468-201X ISO Abbreviation: Heart Publication Date: 2003 Jan |
Date Detail:
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Created Date: 2002-12-16 Completed Date: 2003-01-31 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 9602087 Medline TA: Heart Country: England |
Other Details:
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Languages: eng Pagination: e2 Citation Subset: AIM; IM |
Affiliation:
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Department of Cardiovascular Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan. mikan@net2.nagasaki-u.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Biopsy
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methods Fabry Disease / complications*, genetics, pathology Fatal Outcome Female Heart Block / complications*, genetics, pathology Heart Failure / complications, genetics, pathology Humans Microscopy, Electron / methods Middle Aged Pedigree |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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