Bradshaw AlleaBelle, Bradshaw Jace C, Suffredini Giancarlo, Hoover-Fong Julie, Gammie James S
Division of Cardiac Surgery, Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
JACC Case Rep. 2025 Aug 6;30(22):104654. doi: 10.1016/j.jaccas.2025.104654.
Achondroplasia is the most common short stature skeletal dysplasia, but there are few reports of cardiac surgical intervention in these patients.
We present a case of mitral valve (MV) repair for mitral regurgitation in a patient with achondroplasia. A 55-year-old man with achondroplasia and obstructive sleep apnea presented with acute-onset dyspnea. Echocardiography demonstrated severe mitral regurgitation with a flail posterior leaflet. He underwent uncomplicated MV repair with artificial cords and an annuloplasty.
MV repair is feasible and can be straightforward in patients with achondroplasia. We discuss important considerations for future peri- and intraoperative providers of these patients in cardiac surgery.
软骨发育不全是最常见的导致身材矮小的骨骼发育异常疾病,但关于这些患者心脏外科手术干预的报道很少。
我们报告一例软骨发育不全患者因二尖瓣反流行二尖瓣修复术的病例。一名55岁患有软骨发育不全和阻塞性睡眠呼吸暂停的男性因急性发作性呼吸困难就诊。超声心动图显示严重二尖瓣反流,后叶脱垂。他接受了人工腱索和瓣环成形术的二尖瓣修复术,手术过程顺利。
二尖瓣修复术在软骨发育不全患者中是可行的,且操作可以很直接。我们讨论了心脏外科手术中这些患者未来围手术期和术中医疗人员的重要注意事项。