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Severe hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease

Masarone, D; Duro, G; Dellegrottaglie, S; Colomba, P; Rubino, M; Cirillo, A; Pisani, A; ... Limongelli, G; + view all (2017) Severe hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease. Future Cardiology , 13 (6) pp. 521-527. 10.2217/fca-2017-0011. Green open access

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Abstract

AIM: Anderson-Fabry disease (AFD) is a hereditary disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A which causes dysfunctions in multiple organ systems. Cardiac manifestation includes left ventricular hypertrophy, thickening of the valves, conduction disturbances and in the late phase, extensive areas of myocardial fibrosis with increased risk of sudden cardiac death. Case example: A case of AFD with exclusive cardiac involvement is described. During follow-up, due to the high risk of life-threatening arrhythmic events, implantation of an implantable cardioverter defibrillator is performed. CONCLUSION: AFD patients with advanced cardiac disease might represent a subgroup of patients who may require an implantable cardioverter defibrillator for primary prevention of sudden cardiac death.

Type: Article
Title: Severe hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.2217/fca-2017-0011
Publisher version: http://doi.org/10.2217/fca-2017-0011
Language: English
Additional information: © 2017 Future Medicine Ltd. This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Anderson-Fabry disease, cardiac magnetic resonance, cardiomyopathies, echocardiography, enzymatic replacement therapy, sudden cardiac death
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: https://discovery.ucl.ac.uk/id/eprint/10023857
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