Interv Akut Kardiol. 2018;17(2):67-70 | DOI: 10.36290/kar.2018.039

Cardiologic evaluation in Fabry disease

Lubor Goláň
II. interní klinika kardiologie a angiologie, 1. LF UK a VFN, Praha

Fabry disease is an inherited metabolic storage disease. The majority of patients present with heart involvement that is typicallymanifested as myocardial hypertrophy. Successful treatment requires a correct diagnosis and thorough evaluation which, inaddition to patient history and physical examination, also involves ECG, echocardiography, and magnetic resonance imaging.Enzyme replacement therapy is a specific type of treatment.

Keywords: storage disease, Fabry disease, left ventricular hypertrophy, enzyme replacement therapy

Published: May 1, 2018  Show citation

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Goláň L. Cardiologic evaluation in Fabry disease. Interv Akut Kardiol. 2018;17(2):67-70. doi: 10.36290/kar.2018.039.
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