title: 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.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy. sechi.annalisa@aoud.sanita.fvg.it.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Sechi
authors.forename: Gaetano
authors.initials: G
authors.lastname: Nucifora
authors.forename: Gianluca
authors.initials: G
authors.lastname: Piccoli
authors.forename: Andrea
authors.initials: A
authors.lastname: Dardis
authors.forename: Bruno
authors.initials: B
authors.lastname: Bembi
mesh_terms: D003287:Contrast Media; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D005355:Fibrosis; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine; D008297:Male; D009154:Mutation; D009206:Myocardium / Q000473:pathology*; D010641:Phenotype; D011237:Predictive Value of Tests; D012737:Sex Factors; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D003287:Contrast Media; C576330:GLA protein, human; D000519:alpha-Galactosidase