Associazione Nazionale Medici Cardiologi Ospedalieri

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CONGRESS ABSTRACT

CONGRESS ABSTRACT

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If you want to go fast, go alone. If you want to go far, ablate AF: a case report.
Anno:
2024
We report a case of a 70-years-old woman who was admitted at the Emergency Department of our hospital with chest discomfort, palpitations and dyspnoea at rest. Her cardiovascular risk factors were: arterial systemic hypertension and atrial fibrillation. She had been diagnosed with Fabry disease about twenty years before and…
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THE GLA D313Y MUTATION IN FABRY DISEASE: DIAGNOSTIC DILEMMAS AND THERAPEUTIC CONSIDERATIONS
Anno:
2024
Fabry disease is a genetic disorder caused by mutations in the GLA gene, which encodes alpha-galactosidase A, leading to enzyme dysfunction and subsequent accumulation of glycosphingolipids. In the classical form, it occurs in childhood or early adolescence with renal, cardiac, and neurological involvement, resulting in a poor prognosis. The…
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