title: [Role of cardiac magnetic resonance in cardiac involvement of Fabry disease].
abstract: OBJECTIVE
  Fabry disease is a hereditary disorder. Clinical manifestations are multisystemic. The majority of the patients remain undiagnosed until late in life, when alterations could be irreversible. Early detection of cardiac symptoms is of major interest in Fabry's disease (FD) in order to gain access to enzyme replacement therapy. Echo-Doppler tissular imaging (TDI) has been used as a cardiologic early marker in FD.
  
  
  OBJECTIVE
  This study is intended to determine whether the cardiac magnetic resonance is as useful tool as TDI for the early detection of cardiac affectation in FD.
  
  
  METHODS
  Echocardiography, tissue Doppler and Cardio magnetic resonance was performed in 20 patients with confirmed Fabry Disease. Left ventricular hypertrophy was defined as septum and left ventricular posterior wall thickness ≥12 mm. An abnormal TDI velocity was defined as (Sa), (Ea) and/or (Aa) velocities <8 cm/s at either the septal or lateral corner. Late phase gadolinium-enhanced images sequences were obtained using magnetic resonance.
  
  
  RESULTS
  Twenty patients included in the study were divided into three groups: 1. Those without left ventricular hypertrophy nor tissue Doppler impairment 2. Those without left ventricular hypertrophy and tissue Doppler impairment 3. Those with left ventricular hypertrophy and Tissue Doppler impairment. Late gadolinium enhancement was found in only one patient, who has already altered DTI and LVH.
  
  
  CONCLUSIONS
  Tissue Doppler imaging (TDI) is the only diagnostic tool able to provide early detection of cardiac affectation in patients with FD. Magnetic resonance provides information of the disease severity in patients with LVH, but can not be used as an early marker of cardiac disease in patients with FD. However MRI could be of great value for diagnostic stratification.
authors.affiliation: Unidad de Imagen Cardiovascular, Instituto Cardiovascular, Hospital Clínico San Carlos, Madrid, España.
authors.forename: Viviana M
authors.initials: VM
authors.lastname: Serra
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Barba
authors.forename: Roser
authors.initials: R
authors.lastname: Torrá
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Pérez De Isla
authors.forename: Mónica
authors.initials: M
authors.lastname: López
authors.forename: Andrea
authors.initials: A
authors.lastname: Calli
authors.forename: Gisela
authors.initials: G
authors.lastname: Feltes
authors.forename: Joan
authors.initials: J
authors.lastname: Torras
authors.forename: Victor
authors.initials: V
authors.lastname: Valverde
authors.forename: José L
authors.initials: JL
authors.lastname: Zamorano
mesh_terms: D000328:Adult; D042241:Early Diagnosis; D000795:Fabry Disease / Q000150:complications; D005260:Female; D006331:Heart Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D014463:Ultrasonography