A case report of procedural management of an adult with morquio syndrome undergoing transcatheter aortic valve implantation.

Abstract

Background: Morquio syndrome is an autosomal recessive deficiency of N-acetylgalactosamine-6-sulphate, causing an accumulation of glycosaminoglycans that leads to musculoskeletal and cardiopulmonary abnormalities. We describe the management of aortic stenosis via a transcatheter aortic valve implantation (TAVI) in a patient with Morquio syndrome.

Case summary: A 73-year-old woman with Morquio syndrome presented with one year of progressive dyspnoea and was found to have severe aortic stenosis on transthoracic echocardiogram. She previously underwent an attempted TAVI via transfemoral approach, which was aborted due to iliac artery dissection and occlusion. A multidisciplinary team opted for TAVI via a surgical femoral artery cut-down approach. She was last seen and recovering well three months post-procedure.

Discussion: Musculoskeletal and cardiopulmonary manifestations of Morquio syndrome place patients at higher risk for procedural complications. As medical techniques improve and patients survive later into adulthood, increasing numbers will require aortic valve replacements to improve quality of life. This case highlights the challenges of aortic valve disease management in patients with Morquio syndrome, and suggests that TAVI can be safely performed using a surgical femoral cut-down approach.