First case reported of transcatheter aortic valve implantation in a patient affected by Fabry’s Disease and severe low-flow low-gradient aortic valve stenosis

Abstract

Fabry’s disease is a rare X-linked lysosomal storage disorder in which cardiac involvement is common manifesting as arrhythmias, coronary artery disease, valvular disorders and restrictive cardiomyopathy. We describe a case of a 76-year-old female affected by Fabry’s disease and severe low-flow low-gradient aortic stenosis that underwent transcatheter aortic valve implantation (TAVI) in our center. No complications occurred during the procedure or in the peri-procedural period. The patient was discharged 5 days later, in a much improved clinical and haemodynamic state. At long-term follow-up there was a remarkable improvement in left ventricular systolic function despite the underlying cardiomyopathy. Despite absence of previous experience, our case report indicates that TAVI can be a feasible and effective therapeutic option for aortic stenosis in patients with Fabry’s disease.