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.

Anderson-Fabry disease in heart failure

“…Although the presence of valvular disease is common, few patients develop valvular regurgitation or stenosis sufficient to warrant surgical intervention with valve repair or replacement (Wu et al 2010 ; Choi et al 2009 ; Fernandez et al 2012 ). There are reports of successful valvular intervention including using newer transcatheter aortic valve replacements (TAVR) in patients with Fabry’s disease (Giustino et al 2014 ).…”