[Role of cardiac magnetic resonance in cardiac involvement of Fabry disease].
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.
Serra
Viviana M
VM
Unidad de Imagen Cardiovascular, Instituto Cardiovascular, Hospital Clínico San Carlos, Madrid, España.
Barba
Miguel Angel
MA
Torrá
Roser
R
Pérez De Isla
Leopoldo
L
López
Mónica
M
Calli
Andrea
A
Feltes
Gisela
G
Torras
Joan
J
Valverde
Victor
V
Zamorano
José L
JL
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