Open Access Highly Accessed Case report

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

Annalisa Sechi1*, Gaetano Nucifora2, Gianluca Piccoli3, Andrea Dardis1 and Bruno Bembi1

Author Affiliations

1 Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy

2 Cardiothoracic Department, University Hospital Santa Maria della Misericordia, Udine, Italy

3 Department of Diagnostic Imaging, University Hospital Santa Maria della Misericordia, Udine, Italy

For all author emails, please log on.

BMC Cardiovascular Disorders 2014, 14:86  doi:10.1186/1471-2261-14-86

Published: 16 July 2014

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.

Keywords:
Fabry disease; Cardiovascular magnetic resonance; Myocardial fibrosis; Late gadolinium enhancement