Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.
OBJECTIVE
Anderson-Fabry disease (AFD) is an uncommon X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. The Fabry Outcome Survey is a European database designed to monitor the long-term efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa. The aim of this study was to determine the prevalence and characteristics of cardiac disease in AFD patients.


RESULTS
Clinical and laboratory data were available in 714 patients from 11 countries (mean age 35 +/- 17 years, 369 women, 336 treated). The prevalence of angina was 23 vs. 22%; palpitations and arrhythmias 27 vs. 26%; exertional dyspnoea 23 vs. 23%; and syncope 2 vs. 4%, in women and men, respectively (all P = NS). The frequency of all cardiac symptoms was significantly higher in treated than in untreated patients. Gender, age, and glomerular filtration rate were independent determinants of echocardiographically assessed left ventricular hypertrophy (LVH).


CONCLUSIONS
This study confirms the high prevalence of cardiac morbidity associated with AFD. The disease burden in treated women exceeds that of untreated men, suggesting that most women selected for ERT have advanced disease. The presence of LVH is associated with higher frequency of cardiac signs and symptoms and relates independently to gender, age, and renal function.
Linhart
Ales
A
Second Department of Internal Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic. alinh@lf1.cuni.cz
Kampmann
Christoph
C
Zamorano
José L
JL
Sunder-Plassmann
Gere
G
Beck
Michael
M
Mehta
Atul
A
Elliott
Perry M
PM
D000328:Adult; D004417:Dyspnea / Q000453:epidemiology / Q000209:etiology; D004452:Echocardiography; D005060:Europe / Q000453:epidemiology; D000795:Fabry Disease / Q000150:complications* / Q000188:drug therapy; D005260:Female; D005919:Glomerular Filtration Rate; D006331:Heart Diseases / Q000150:complications / Q000453:epidemiology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000150:complications / Q000453:epidemiology; D007527:Isoenzymes / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D011994:Recombinant Proteins; D012307:Risk Factors; D013575:Syncope / Q000453:epidemiology / Q000209:etiology; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use
D007527:Isoenzymes; D011994:Recombinant Proteins; C000627036:agalsidase alfa; D000519:alpha-Galactosidase