Document Detail

Sisters with atypical Fabry's disease with complete atrioventricular block.
MedLine Citation:
PMID:  12482812     Owner:  NLM     Status:  MEDLINE    
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.
Y Doi; G Toda; K Yano
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Heart (British Cardiac Society)     Volume:  89     ISSN:  1468-201X     ISO Abbreviation:  Heart     Publication Date:  2003 Jan 
Date Detail:
Created Date:  2002-12-16     Completed Date:  2003-01-31     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  9602087     Medline TA:  Heart     Country:  England    
Other Details:
Languages:  eng     Pagination:  e2     Citation Subset:  AIM; IM    
Department of Cardiovascular Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.
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MeSH Terms
Biopsy / methods
Fabry Disease / complications*,  genetics,  pathology
Fatal Outcome
Heart Block / complications*,  genetics,  pathology
Heart Failure / complications,  genetics,  pathology
Microscopy, Electron / methods
Middle Aged

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