Oneto Agustin, Sakhuja Rahul, Osho Asishana, Langer Nathaniel B, Eagleton Matthew J, Fitzsimons Michael G
Department of Anesthesia, Critical Care, and Pain Medicine, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.
Cardiology Division, Department of Medicine, Interventional Cardiology Section, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.
Eur Heart J Case Rep. 2025 Mar 7;9(3):ytaf117. doi: 10.1093/ehjcr/ytaf117. eCollection 2025 Mar.
Morquio syndrome is an autosomal recessive deficiency of -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.
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.
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.
莫尔基奥综合征是一种常染色体隐性遗传疾病，缺乏β-乙酰半乳糖胺-6-硫酸盐，导致糖胺聚糖蓄积，进而引起肌肉骨骼和心肺异常。我们描述了一名患有莫尔基奥综合征的患者通过经导管主动脉瓣植入术（TAVI）治疗主动脉瓣狭窄的情况。
一名73岁患有莫尔基奥综合征的女性，出现进行性呼吸困难1年，经胸超声心动图检查发现患有严重主动脉瓣狭窄。她之前尝试经股动脉途径进行TAVI，但因髂动脉夹层和闭塞而中止。一个多学科团队选择通过外科股动脉切开途径进行TAVI。术后3个月对她进行随访，发现她恢复良好。
莫尔基奥综合征的肌肉骨骼和心肺表现使患者发生手术并发症的风险更高。随着医疗技术的进步以及患者存活至成年后期，越来越多的患者将需要进行主动脉瓣置换以提高生活质量。该病例突出了莫尔基奥综合征患者主动脉瓣疾病管理的挑战，并表明采用外科股动脉切开途径可以安全地进行TAVI。
