Il follow-up cardiologico nel paziente con malattia di Fabry

Translated title of the contribution: Cardiological follow-up in patients with Fabry disease

Federico Pieruzzi, Maurizio Pieroni, Cristina Chimenti, Andrea Frustaci, Cristiano Sarais, Franco Cecchi

Research output: Contribution to journalArticlepeer-review


Fabry disease is a rare tesaurismosis due to a deficit of the lysosomal enzyme activity of α-galactosidase, needed for the normal catabolism of globotriaosylceramides (GL3). Fabry cardiac involvement has several clinical manifestations: concentric left ventricular hypertrophy without left ventricular dilation and severe loss of left ventricular systolic function, mitral and aortic valvulopathy, disorders of the atrioventricular conduction or repolarization, and compromised diastolic function. Differentiating Fabry disease from similar conditions is often quite straightforward, e.g. cardiac amyloidosis is often associated with low electrocardiographic voltages, and systemic symptoms are usually associated with hemochromatosis and sarcoidosis. However, sometimes second-level (genetic analysis, α-galactosidase levels) or invasive investigations are required, which can include endomyocardial biopsy. Diagnostic imaging techniques have been described, but they lack specificity. Echocardiographic imaging with tissue Doppler analysis and/or strain rate analysis can allow diagnosis of Fabry disease even before left ventricular hypertrophy becomes apparent. This review illustrates the techniques for staging cardiac involvement and damage in Fabry disease and for the long-term follow-up of Fabry patients with or without cardiac involvement. Careful cardiac monitoring is especially important in elderly female carriers, who often develop renal disorders and/or left ventricular hypertrophy as the only manifestations of their late Fabry disease. In some clinical series, Fabry disease was diagnosed in 12% of women with adult-onset hypertrophic cardiomyopathy. Cardiological problems and outcomes of enzyme replacement therapy, associated with or without other cardiological treatments, are also discussed.

Translated title of the contributionCardiological follow-up in patients with Fabry disease
Original languageItalian
Pages (from-to)566-572
Number of pages7
JournalGiornale Italiano di Cardiologia
Issue number7-8
Publication statusPublished - Jul 2010

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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