Abstract:
BACKGROUND: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. CASE PRESENTATION: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. CONCLUSION: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.
journal_name
BMC Cardiovasc Disordjournal_title
BMC cardiovascular disordersauthors
Sechi A,Nucifora G,Piccoli G,Dardis A,Bembi Bdoi
10.1186/1471-2261-14-86subject
Has Abstractpub_date
2014-07-16 00:00:00pages
86issn
1471-2261pii
1471-2261-14-86journal_volume
14pub_type
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