Hammond Rory F L, Jasionowska Sara, Awad Wael I
Department of Cardiothoracic Surgery, Barts Heart Centre, St Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK.
Eur Heart J Case Rep. 2020 Mar 24;4(3):1-4. doi: 10.1093/ehjcr/ytaa037. eCollection 2020 Jun.
Klippel-Feil syndrome (KFS) is a rare congenital anomaly of the cervical spine, which is associated with a number of cardiovascular malformations, including coarctation of the aorta, bicuspid aortic valve (BAoV), and aortic aneurysm. Operative management of aortic stenosis of a BAoV in a patient with KFS has not been previously reported.
A 54-year-old Caucasian woman with known KFS presented to her local hospital for elective cholecystectomy. An ejection systolic murmur was found incidentally on preoperative workup, which was confirmed to be due to a severely stenosed BAoV. The cholecystectomy was cancelled, and the patient was referred to our centre and accepted for surgical aortic valve replacement (AVR) based on symptomatic and prognostic grounds. Anaesthetic review of cervical spine imaging showed fusion of the C2-C6 vertebral bodies and a desiccated bulging disc at C4-C5 but no significant foraminal narrowing in the lower cervical spine. Valve replacement with a mechanical aortic prosthesis resulted in an uneventful recovery and the patient was discharged home to follow-up.
We report the first case of severe aortic valve stenosis requiring AVR in a Klippel-Feil patient, in whom the aortic valve was confirmed to be bicuspid. This report provides further evidence of an association of KFS with BAoV and strengthens the case for screening and follow-up of KFS patients for BAoV and other cardiovascular pathologies, the consequences of which may be serious.
克-费综合征（KFS）是一种罕见的颈椎先天性异常疾病，与多种心血管畸形有关，包括主动脉缩窄、二叶式主动脉瓣（BAoV）和主动脉瘤。此前尚无KFS患者行BAoV主动脉瓣狭窄手术治疗的报道。
一名54岁的白人女性，已知患有KFS，因择期胆囊切除术前往当地医院就诊。术前检查偶然发现有喷射性收缩期杂音，经证实是由严重狭窄的BAoV引起的。胆囊切除术被取消，患者被转诊至我们中心，并基于症状和预后因素接受了主动脉瓣置换术（AVR）。对颈椎影像学的麻醉评估显示C2-C6椎体融合，C4-C5椎间盘脱水膨出，但下颈椎无明显椎间孔狭窄。使用机械主动脉假体进行瓣膜置换术后恢复顺利，患者出院回家随访。
我们报告了首例Klippel-Feil患者因严重主动脉瓣狭窄需要进行AVR的病例，该患者的主动脉瓣经证实为二叶式。本报告进一步证明了KFS与BAoV之间的关联，并强化了对KFS患者进行BAoV和其他心血管疾病筛查及随访的理由，因为这些疾病的后果可能很严重。
