A case study of a 59-year-old male with a cardiac variant of Anderson–Fabry disease

Abstract

Anderson–Fabry disease is a rare X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A, affecting around 1 in 100,000 births. Waste products build up within cells throughout the body, affecting the heart, nervous system, skin, eyes and kidneys. In the cardiac variant, Anderson–Fabry disease the effects are limited to the heart, causing left-ventricular hypertrophy (LVH), valve defects and conduction abnormalities. Involvement of the heart contributes to morbidity and premature death because of increased prevalence of heart failure, arrhythmia and strokes. Utilising a case study of a 59-year-old male with the cardiac variant of Anderson–Fabry disease, this article discusses the treatment options available, including dual chamber pacing and implantable cardioverter defibrillator (ICD) therapy, in line with American Heart Association/American College of Cardiology (AHA/ACC) guideline criteria. Additionally research into enzyme replacement therapy (ERT) suggests treatment can reverse damage and prevent further damage occurring, therefore the use of ERT and its effectiveness in this case is also discussed.