Unexpected diagnosis of fabry disease in an 80-year-old man with syncope

Cardiology

Volumn 96, Issue 2, 2001, Pages 115-116

  Lien, Yeong Hau H ^a   Lai, Li Wen ^a   Lui, Charles Y ^a  

^a UNIVERSITY OF ARIZONA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ALPHA GALACTOSIDASE; ARGININE; ATROPINE; COMPLEMENTARY DNA; GLUTAMINE; GLYCOSPHINGOLIPID; LYSOSOME ENZYME; RNA;

AGED; ANGIOCARDIOGRAPHY; ATRIOVENTRICULAR BLOCK; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ELECTROCARDIOGRAM; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME REPLACEMENT; FABRY DISEASE; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE HYPERTROPHY; HUMAN; INTRACELLULAR TRANSPORT; LETTER; MALE; MUTATION; PRIORITY JOURNAL; PROTEINURIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINUS BRADYCARDIA; SINUS RHYTHM; SYNCOPE; TREATMENT OUTCOME; URINALYSIS;

AGED; AGED, 80 AND OVER; FABRY DISEASE; HEART BLOCK; HUMANS; MALE; SYNCOPE;

EID: 0035216189     PISSN: 00086312     EISSN: None     Source Type: Journal    
DOI: 10.1159/000047393     Document Type: Letter

References (8)

1. Enzymatic defect in Fabry's disease: Ceramidetrihexosidase deficiency
2. Electrocardiographic and vectorcardiographic observations in Fabry's disease
3. Combined atrioventricular block and sinus node dysfunction in Fabry's disease
4. Fabry's disease with complete atrioventricular block: Histological evidence of involvement of the conduction system
5. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease
6. Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease
7. Enzyme replacement therapy in Fabry disease
8. Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease