Key result
A 63-year-old male with atypical Anderson-Fabry disease and severe hypertrophic cardiomyopathy experienced progression of myocardial fibrosis despite enzyme replacement therapy, requiring ICD implantation.
Case Report (n=1)
Patients with atypical Anderson-Fabry disease and advanced cardiac involvement may require ICD implantation for primary prevention of sudden cardiac death due to high arrhythmic risk.
May warrant ICD consideration for primary prevention in advanced cardiac Anderson-Fabry; leaves open whether enzyme replacement halts fibrosis progression.
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.
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Masarone et al. (2017) conducted a case report in Atypical Anderson-Fabry disease (n=1). Enzyme replacement therapy (agalsidase-beta) and ICD was evaluated. A 63-year-old male with atypical Anderson-Fabry disease and severe hypertrophic cardiomyopathy experienced progression of myocardial fibrosis despite enzyme replacement therapy, requiring ICD implantation.
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