title: Sisters with atypical Fabry's disease with complete atrioventricular block.
abstract: 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.
authors.affiliation: 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
authors.forename: Y
authors.initials: Y
authors.lastname: Doi
authors.forename: G
authors.initials: G
authors.lastname: Toda
authors.forename: K
authors.initials: K
authors.lastname: Yano
mesh_terms: D001706:Biopsy / Q000379:methods; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006327:Heart Block / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006333:Heart Failure / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D008854:Microscopy, Electron / Q000379:methods; D008875:Middle Aged; D010375:Pedigree