7 octobre 2020
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info:eu-repo/semantics/altIdentifier/doi/10.53738/REVMED.2020.16.709.1886
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info:eu-repo/semantics/altIdentifier/pmid/33026733
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info:eu-repo/semantics/altIdentifier/pissn/1660-9379
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info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_08D864873FA75
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F. Barbey et al., « Hypertrophie ventriculaire gauche isolée : et si c’était une maladie de Fabry ? [Isolated left ventricular hypertrophy : is it a Fabry disease?] », Serveur académique Lausannois, ID : 10.53738/REVMED.2020.16.709.1886
Fabry disease, an X-linked disease, results from a deficiency of the lysosomal enzyme alpha-galactosidase A, which causes glycosphingolipids accumulation in the body. On the basis of the residual enzymatic activity level, a classical, severe multisystemic form and an attenuated cardiac variant form are distinguished. In all cases, patients can develop hypertrophic cardiomyopathy in adulthood, the severity of which is the leading cause of morbidity and mortality of the disease. The cardiomyopathy is usually isolated in the cardiac variant form, the most common form of the disease, and should be suspected in the presence of relatively specific ECG, echocardiographic and MRI characteristics.