PMID- 25026990 OWN - NLM STAT- MEDLINE DCOM- 20150120 LR - 20211021 IS - 1471-2261 (Electronic) IS - 1471-2261 (Linking) VI - 14 DP - 2014 Jul 16 TI - 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. PG - 86 LID - 10.1186/1471-2261-14-86 [doi] AB - 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. FAU - Sechi, Annalisa AU - Sechi A AD - Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy. sechi.annalisa@aoud.sanita.fvg.it. FAU - Nucifora, Gaetano AU - Nucifora G FAU - Piccoli, Gianluca AU - Piccoli G FAU - Dardis, Andrea AU - Dardis A FAU - Bembi, Bruno AU - Bembi B LA - eng PT - Case Reports PT - Journal Article DEP - 20140716 PL - England TA - BMC Cardiovasc Disord JT - BMC cardiovascular disorders JID - 100968539 RN - 0 (Contrast Media) RN - EC 3.2.1.22 (GLA protein, human) RN - EC 3.2.1.22 (alpha-Galactosidase) RN - Fabry Disease, Cardiac Variant SB - IM MH - Contrast Media MH - DNA Mutational Analysis MH - Fabry Disease/*diagnosis/enzymology/genetics/pathology MH - Fibrosis MH - Genetic Predisposition to Disease MH - Genetic Testing/methods MH - Humans MH - *Magnetic Resonance Imaging, Cine MH - Male MH - Mutation MH - Myocardium/*pathology MH - Phenotype MH - Predictive Value of Tests MH - Sex Factors MH - Young Adult MH - alpha-Galactosidase/genetics PMC - PMC4107623 EDAT- 2014/07/17 06:00 MHDA- 2015/01/21 06:00 PMCR- 2014/07/16 CRDT- 2014/07/17 06:00 PHST- 2014/03/19 00:00 [received] PHST- 2014/06/23 00:00 [accepted] PHST- 2014/07/17 06:00 [entrez] PHST- 2014/07/17 06:00 [pubmed] PHST- 2015/01/21 06:00 [medline] PHST- 2014/07/16 00:00 [pmc-release] AID - 1471-2261-14-86 [pii] AID - 10.1186/1471-2261-14-86 [doi] PST - epublish SO - BMC Cardiovasc Disord. 2014 Jul 16;14:86. doi: 10.1186/1471-2261-14-86.