Cardiovascular Manifestations in Fabry Disease: A Clinical and Echocardiographic Study

This study reviews the clinical and echocardiographic findings in a cohort of Fabry patients ( n = 12) and compares echocardiographic findings to normal controls. Almost all patients had extracardiac manifestations. Five out of 12 patients had cardiovascular symptoms. Nine out of 12 patients had lef...

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Bibliographic Details
Published in:Heart, lung & circulation lung & circulation, 2007-06, Vol.16 (3), p.200-206
Main Authors: Sadick, Norman, PhD, FRACP, Thomas, Liza, PhD, FRACP
Format: Article
Language:English
Subjects:
Adult
Aged
Cardiomyopathy
Cardiovascular
Cohort Studies
Echocardiography
Fabry disease
Fabry Disease - complications
Fabry Disease - physiopathology
Female
Heart - physiopathology
Heart Diseases - etiology
Heart Diseases - pathology
Heart Diseases - physiopathology
Humans
Male
Middle Aged
Myocardium - pathology
Myocardium - ultrastructure
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Summary:This study reviews the clinical and echocardiographic findings in a cohort of Fabry patients ( n = 12) and compares echocardiographic findings to normal controls. Almost all patients had extracardiac manifestations. Five out of 12 patients had cardiovascular symptoms. Nine out of 12 patients had left ventricular hypertrophy (LVH) on the electrocardiogram (ECG) and one patient had short PR interval. Three patients had epicardial coronary disease. Four patients had ‘rat-tail’ appearance on left ventriculogram. Six patients who had myocardial biopsy showed extensive vacuolation of the myocytes on light microscopy and concentric, myelinoid lamellar cytoplasmic inclusion bodies on electron microscopy. On echocardiography, LV mass was significantly increased in the Fabry group compared to normal controls. Traditional parameters of diastolic function including peak E velocity, peak A velocity and deceleration time were no different to normal controls. The IVRT was significantly prolonged in the Fabry subjects. The PV atrial reversal duration exceeded that of mitral A wave duration in the Fabry group. The septal E′ velocity with Doppler tissue imaging (DTI) was significantly lower in the Fabry group than the normal controls. Fabry disease should be considered in the differential diagnosis in patients with unexplained LVH and late onset hypertrophic cardiomyopathy. Extracardiac manifestations are common.
ISSN:1443-9506
1444-2892
DOI:10.1016/j.hlc.2007.03.007