[Role of cardiac magnetic resonance in cardiac involvement of Fabry disease].

Abstract:

BACKGROUND AND OBJECTIVES: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. OBJECTIVES: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. PATIENTS AND 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. CONCLUSION: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.

journal_name

Med Clin (Barc)

journal_title

Medicina clinica

authors

Serra VM,Barba MA,Torrá R,Pérez De Isla L,López M,Calli A,Feltes G,Torras J,Valverde V,Zamorano JL

doi

10.1016/j.medcli.2009.11.044

subject

Has Abstract

pub_date

2010-09-04 00:00:00

pages

300-5

issue

7

eissn

0025-7753

issn

1578-8989

pii

S0025-7753(10)00352-0

journal_volume

135

pub_type

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