title: Ventricular Tachycardia in Fabry Disease Detected in a 50-Year-Old Woman during 14-Day Continuous Cardiac Monitoring.
abstract: Fabry disease is an X-linked lysosomal storage disorder. Female carriers were long thought to be asymptomatic; however, research has revealed the opposite. Cardiac conditions are the chief causes of death in women with Fabry disease. Although ventricular tachycardia has been reported in male patients with Fabry disease, it is not thought to be a frequent finding in females. We describe the case of a 50-year-old woman in whom we used 14-day continuous electrocardiographic monitoring to identify nonsustained ventricular tachycardia, after electrocardiograms and 24-hour Holter monitoring failed to detect the arrhythmia. A permanent implantable cardioverter-defibrillator relieved the patient's symptoms. We discuss why this case supports the need for more extensive electrophysiologic evaluation in women who have Fabry disease.
authors.forename: Jaime
authors.initials: J
authors.lastname: Silva-Gburek
authors.forename: Laura
authors.initials: L
authors.lastname: Rochford
authors.forename: Robert
authors.initials: R
authors.lastname: Hopkin
authors.forename: John L
authors.initials: JL
authors.lastname: Jefferies
mesh_terms: D017147:Defibrillators, Implantable; D004554:Electric Countershock / Q000295:instrumentation; D015716:Electrocardiography, Ambulatory / Q000379:methods*; D022062:Electrophysiologic Techniques, Cardiac; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005221:Fatigue / Q000209:etiology; D005260:Female; D006801:Humans; D008875:Middle Aged; D011237:Predictive Value of Tests; D013575:Syncope / Q000209:etiology; D017180:Tachycardia, Ventricular / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D013997:Time Factors; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use
chemical_list: D000519:alpha-Galactosidase
keywords: Alpha-galactosidase/blood; Fabry disease/complications/epidemiology; arrhythmias, cardiac/etiology; defibrillators, implantable; female; prevalence; tachycardia, ventricular/diagnosis/etiology/prevention & control; treatment outcome