A 32-year-old developmentally delayed man presenting with dyspnea was found to have severe aortic and mitral valve stenosis. After double valve replacement, unique histologic findings prompted a genetics evaluation, ultimately leading to the diagnosis of mucopolysaccharidosis type I, a rare lysosomal storage disorder with high rates of cardiac manifestations. (
Level of Difficulty: Advanced.
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Background
There are limited commercial valve sizes available for transcatheter aortic valve implantation (TAVI). This makes it challenging or even prohibitive to perform TAVI on large aortic annuli.
Case Summary
A 78-year-old male with known low-flow, low-gradient severe aortic stenosis presented with progressive dyspnea, chest pressure, and decompensated heart failure. Successful off-label TAVI was performed for tricuspid aortic valve stenosis with an aortic annulus of >900 mm2. An Edwards S3 29 mm valve was overexpanded with an extra 7 mL of volume at valve deployment. No complications occurred, and only trivial paravalvular leak was seen following implantation. The patient died from a non-cardiovascular cause 8 months following the procedure.
Discussion
Patients that require aortic valve replacement with prohibitive surgical risk and have very large aortic valve annuli pose significant technical challenges. This case shows the feasibility of TAVI by overexpanding an Edwards S3 valve.
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