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

Gennaro Giustino, Alaide Chieffo, Matteo Montorfano, Pietro Spagnolo, Vasileios F. Panoulas, Chiara Bernelli, Azeem Latib, Eustachio Agricola, Remo Daniel Covello, Ottavio Alfieri, Antonio Colombo


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.

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Case Reports in Internal Medicine

ISSN 2332-7243(Print)  ISSN 2332-7251(Online)

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