Transcatheter aortic valve implantation (TAVI) is commonly used in older patients with aortic stenosis considered at high or intermediate risk for surgical replacement. To our knowledge, TAVI has not been used in young patients or in patients with paediatric dimensions.

We report a case of a 25-year-old patient followed since childhood for mucolipidosis type III with thoraco-lombar cyphosis, chronic kidney disease and evolving aortic regurgitation (AR). Two acute heart failure episodes occurred during the last year requiring intravenous loop diuretics, on top of chronic dyspnea (NYHA III–IV). Patient height was 114cm and weight 27kg. Echocardiography showed severe aortic regurgitation with dilated LV (Z-value LVED+4.5) and LV dysfunction (LVEF=35%). The annulus was measured at 21mm. TAVI was considered as surgery was considered at too high-risk. CT scan showed appropriate aortic valve anatomy but also a tortuous abdominal aorta (Fig. 1). Femoral access was obtained under loco-regional anaesthesia, and heparin was administered. A Corevalve EVOLUT™ R 29mm valve (Medtronic) was deployed, using rapid pacing (Fig. 2). Post-implantation echocardiography showed no significant leak, patent coronary arteries and a satisfactory transvalvular gradient at 7mmHg. The procedure was complicated by a left bundle branch block without indication for a pacemaker. Femoral access was complicated by asymptomatic thrombosis of the external illiac artery with good vascular recovery. At last follow-up, patient was improved (NYHA II). Echocardiography showed good position of aortic prosthesis, transvalvular gradient at 4mmHg without aortic regurgitation or paravalvular leak.

Our case report confirms that TAVI may be considered for young adults or patients with paediatric dimensions, in whom surgery is at too high-risk, due to important comorbidities. Vascular access remains an important issue when dealing with small patients.