Poitier Bastien, Amrane Mourad, Bruneval Patrick, Achouh Paul
Cardiac Surgery Department, AH-HP, Georges Pompidou European Hospital, Paris, France.
Department of Pathology Anatomy, AH-HP, Georges Pompidou European Hospital, Paris, France.
Interact Cardiovasc Thorac Surg. 2021 Oct 29;33(5):819-821. doi: 10.1093/icvts/ivab171.
Hunter syndrome is a rare disease leading to glycosaminoglycan accumulation in tissues. Multiple organs are involved, but prognosis is mainly conditioned by cardiac and respiratory failures. Cardiac valvular impairment is quite common but aortic root dilatation is rarely described. This article covers a case of surgical root replacement due to aortic valve insufficiency and aortic root dilatation documented with magnetic resonance and computed tomography angiographies. Anatomic pathology reported both aortic valve and aorta with mucoid overload and elastic fibre depletion. These patients do have a risk of aortic root dilatation, which justifies periodic monitoring. Diagnosis must be made using indexed measures.
亨特综合征是一种罕见疾病,会导致组织中糖胺聚糖蓄积。多个器官受累,但预后主要取决于心脏和呼吸衰竭。心脏瓣膜损害相当常见,但主动脉根部扩张很少被描述。本文报道了一例因主动脉瓣关闭不全和主动脉根部扩张行手术根部置换的病例,通过磁共振血管造影和计算机断层血管造影记录。解剖病理学报告显示主动脉瓣和主动脉均有黏液样物质过载和弹性纤维缺失。这些患者确实存在主动脉根部扩张的风险,这证明了定期监测的合理性。必须使用指标性测量方法进行诊断。