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When should cardiologists suspect Anderson-Fabry disease?

Gambarin, Fabiana I., Disabella, Eliana, Narula, Jagat, Diegoli, Marta, Grasso, Maurizia, Serio, Alessandra, Favalli, B.M.E. Valentina, Agozzino, Manuela, Tavazzi, Luigi, Fraser, Alan Gordon and Arbustini, Eloisa 2010. When should cardiologists suspect Anderson-Fabry disease? American Journal of Cardiology 106 (10) , pp. 1492-1499. 10.1016/j.amjcard.2010.07.016

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Abstract

Anderson-Fabry disease is a lysosomal storage disorder caused by α-galactosidase defects and progressive intracellular accumulation of globotriaosylceramide. The disease can be specifically treated with enzyme replacement therapy. Hemizygous men and heterozygous women can develop cardiac disease. Whereas men experience the most severe clinical phenotype, clinical presentation in women varies from asymptomatic to severely symptomatic. The characteristic cardiac phenotype is left ventricular hypertrophy mimicking sarcomeric hypertrophic cardiomyopathy or hypertensive heart disease. Early or prehypertrophy cardiac involvement may escape detection, unless electrocardiographic clues are present. The cardiac markers that raise suspicion of Anderson-Fabry disease include a short PR interval without a δ wave and a prolonged QRS interval, supraventricular and ventricular arrhythmias, and concentric left ventricular hypertrophy. Extracardiac features include renal failure, corneal deposits, and nervous, gastrointestinal, and cutaneous manifestations. Useful family data include cardiac and extracardiac traits in relatives and absence of male-to-male transmission. Symptoms are subtle, and the interval between the onset of symptoms and diagnosis may be as long as 20 years. As such, the diagnosis is typically late. Endomyocardial biopsy shows optically empty myocytes on light microscopy and dense osmiophilic bodies constituted of globotriaosylceramide on electron microscopy. Alpha-galactosidase A activity is reduced in hemizygous men but not in heterozygous women. Genetic testing is the gold standard for the diagnosis. In conclusion, a correct and timely diagnosis offers the possibility of disease-specific treatment that leads to sustained clinical benefits for cardiac and noncardiac signs and symptoms.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
R Medicine > RB Pathology
Additional Information: This study was supported by “Ricerca Corrente GIMAF: Gruppo di Studio Interdisciplinare per la Sindrome di Anderson Fabry” from the National Ministry of Health, Rome, Italy, to IRCCS Policlinico San Matteo and by Fondazione Cariplo, Milan, Italy.
Publisher: Elsevier
ISSN: 0002-9149
Last Modified: 04 Jun 2017 03:37
URI: http://orca-mwe.cf.ac.uk/id/eprint/23805

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