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The link between Fabry disease and cardiovascular (CV) events has been analysed in a report published recently in the Journal of the American College of Cardiology,1 which its authors claim is the first study to systematically analyse the rates and risk factors associated with such events in a large cohort of patients.

Researchers led by Dr Manesh Patel, Duke University School of Medicine, North Carolina, analysed major CV events (myocardial infarction, heart failure, or cardiac-related death) in 2,869 patients from the Fabry Registry patients during the natural history period (i.e., without enzyme replacement therapy). Multivariate logistic regression analyses were performed to identify significant predictors of CV events.  83 of 1,424 men (5.8%) and 54 of 1,445 women (3.7%) were found to have experienced CV events at mean ages of 45 and 54 years, respectively.

Heart failure was the most common first CV event, reported by 50 men (3.5%) and 33 women (2.3%). Hypertension and left ventricular hypertrophy were the risk factors most strongly associated with CV events. When these parameters were used as covariates in logistic regression analyses, the odds ratio (OR) for hypertension in men was 7.8 (p = 0.0019), and the OR for hypertension in women was 4.5 (p = 0.0037). The OR for left ventricular hypertrophy was 4.8 in men (p = 0.0463) and 8.2 in women (p = 0.0003).

In addition to major CV events, arrhythmias were reported by 281 of 2,869 patients (10%) during the natural history period (169 men and 112 women), although most of these patients did not have an arrhythmia type specified in their case report forms. Among those for whom this information was available, 74% reported atrial arrhythmias.

All patients with Fabry disease should be monitored for cardiovascular (CV) risk factors, the authors assert, particularly hypertension and left ventricular hypertrophy. They claim that the medical community in general, and cardiologists in particular, should be aware of Fabry disease as a possible cause of cardiac dysfunction.


1 Patel MR, Cecchi F, Cizmarik M, et al. Cardiovascular Events in Patients With Fabry Disease: Natural History Data From the Fabry Registry. J Am Coll Cardiol 2011;57:1093-9.

Published on: May 6, 2011

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