Abstract
Fabry's disease (FD) is a genetic disorder leading to deficiency of alpha-galactosidase A. Enzymatic replacement therapy has recently become available. Patients with classical FD develop multi-system involvement; however, there is an increasingly recognized cardiac variant that presents as unexplained left ventricular hypertrophy. We describe a patient with Fabry's disease who presented with ventricular tachycardia.
MeSH terms
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Diagnosis, Differential
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Echocardiography*
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Fabry Disease / complications*
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Fabry Disease / diagnostic imaging
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Fabry Disease / pathology
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Humans
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Hypertrophy, Left Ventricular / diagnostic imaging
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Hypertrophy, Left Ventricular / etiology*
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Hypertrophy, Left Ventricular / pathology
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Male
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Middle Aged
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Tachycardia, Ventricular / diagnostic imaging
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Tachycardia, Ventricular / etiology*
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Tachycardia, Ventricular / pathology
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alpha-Galactosidase