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Left ventricular hypertrophy: do not forget Fabry disease. Diagnostic work-up and differential diagnosis.

par Paelinck, Bernard P;Bondue, Antoine ;Robyns, Tomas;Eyskens, François
Référence Acta cardiologica, 79, 6, page (642-649)
Publication Publié, 2024-08

Article révisé par les pairs

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Résumé :

Left ventricular (LV) hypertrophy is a common clinical finding. Differential diagnosis includes Fabry disease, a rare and progressive, but treatable storage disease caused by deficiency of α-galactosidase A. However, diagnosis of Fabry is often hampered by its clinical heterogeneity, LV hypertrophy phenocopies and unawareness of the clinician.