Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.

[fabry disease]

Cardiovascular magnetic resonance (CMR ) with late gadolinium enhancement (LGE ) imaging is increasingly used to assess myocardial involvement in patients with Fabry disease , an X linked lipid storage disorder . However , it is often proposed as an optional tool . A different cardiomyopathic disease progression between male and female patients was hypothesised in previous studies , as in female myocardial fibrosis was found without left ventricular (LV ) hypertrophy , while myocardial fibrosis was always detected in association to LV hypertrophy in men .A male Caucasian patient , 19 years old , diagnosed through a family-based molecular screening , presented with LGE of the LV inferolateral wall evidenced at the CMR , without LV hypertrophy , or other clinical signs of the disease .This is the first report of cardiac fibrosis as the first sign of organ involvement in a male patient with Fabry disease . This finding stresses the importance of performing CMR with LGE imaging for the initial staging and monitoring of Fabry patients of both genders .

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fabry disease

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