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01.12.2014 | Case report | Ausgabe 1/2014 Open Access

BMC Cardiovascular Disorders 1/2014

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

BMC Cardiovascular Disorders > Ausgabe 1/2014
Annalisa Sechi, Gaetano Nucifora, Gianluca Piccoli, Andrea Dardis, Bruno Bembi
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1471-2261-14-86) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

AS was the primary physician during patient’s first assessment and follow up, conceived the report and drafted the manuscript. GN provided cardiology supervision during scanning, and helped to draft the manuscript. GP assisted in image acquisition and interpretation and helped to draft the manuscript. AD performed the enzymatic and genetic tests and critically reviewed the manuscript. BB provided additional supervision and critically reviewed the manuscript. All authors read and approved the final manuscript.



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.


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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