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

Case Report

Gaetano Nucifora¹  Gianluca Piccoli²  Andrea Dardis³  Annalisa Sechi³  Bruno Bembi³ 

[1] Cardiothoracic Department, University Hospital Santa Maria della Misericordia, Udine, Italy;Department of Diagnostic Imaging, University Hospital Santa Maria della Misericordia, Udine, Italy;Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy;

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

DOI  :  10.1186/1471-2261-14-86

 received in 2014-03-19, accepted in 2014-06-23,  发布年份 2014

来源: Springer

【 摘 要 】

BackgroundCardiovascular 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 presentationA 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.ConclusionThis 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.

【 授权许可】

CC BY   
© Sechi et al.; licensee BioMed Central Ltd. 2014