Cardiac Manifestation of Fabry Disease: From Hypertrophic Cardiomyopathy to Early Diagnosis and Treatment in Patients Without Left Ventricular Hypertrophy
J. inborn errors metab. screen
;
4: e160006, 2016. graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090883
ABSTRACT
Abstract Although Fabry disease was identified a century ago, it is still a challenging condition to diagnose and treat. Registries data suggest that at least 10% of patients may first present with a cardiac event and that cardiac disease is 1 of the 3 major causes of morbidity and mortality in affected males and females. Cardiac involvement in Fabry disease may be expressed as left ventricular hypertrophy (LVH), coronary disease, atrioventricular conduction disturbances, arrhythmias, and valvular involvement. The exact mechanism by which hypertrophy and fibrosis in the heart occur is not fully understood. Lysosomal globotriaosylceramide accumulation in the myocardium is responsible for only 3% of the mass in the hypertrophic heart, indicating that the LVH is not a direct result of substrate infiltration. One of the most important contributions that cardiologists can make is to consider the diagnosis of Fabry disease in patients with cardiac manifestations preceding the development of LVH and conduct family screening to identify patients with early cardiac involvement which will benefit more from enzyme replacement therapy (ERT). Fabry patients without cardiac manifestations of the disease should be evaluated annually by a cardiologist specialized in Fabry disease, regardless of the indication for ERT.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Diagnostic study
/
Screening study
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2016
Type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
Favaloro Foundation University Hospital/AR
/
Foundation for Study of Neurometabolic Diseases (FESEN)/AR
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