Ahluwalia Monica, Sehgal Sankalp, Vainrib Alan F, Applebaum Robert, Latson Larry, Williams Mathew R, Saric Muhamed
Leon H. Charney Division of Cardiology, NYU Langone Health, New York, New York.
Department of Clinical Anesthesiology, Weill Cornell Medicine, New York, New York.
Echocardiography. 2019 Aug;36(8):1586-1589. doi: 10.1111/echo.14417. Epub 2019 Jun 27.
A 51-year-old man with Klippel-Feil syndrome (KFS) and immunodeficiency syndrome, status postintravenous immunoglobulin therapy, presented with shortness of breath. He was found to have severe aortic regurgitation in the setting of a trileaflet aortic valve with thickened leaflets and mild prolapse of the right coronary cusp with left ventricular dilation and borderline left ventricular ejection fraction. Although various cardiac anomalies have been described in KPS, otherwise unexplained severe aortic regurgitation has not been previously reported to the best of our knowledge. The patient underwent an uncomplicated surgical aortic valve replacement with a 25-mm Medtronic Avalus pericardial tissue valve resulting in symptomatic improvement. Intra-operative management and transesophageal echocardiography can be particularly challenging in KFS patients. We describe the first reported case of severe aortic regurgitation in KPS, review the cardiac anomalies associated with the syndrome, and highlight the clinical challenges in intra-operative management of these patients.
一名51岁患有克-费综合征（KFS）和免疫缺陷综合征的男性，在接受静脉注射免疫球蛋白治疗后，出现呼吸急促症状。他被发现患有严重的主动脉瓣反流，其主动脉瓣为三叶瓣，瓣叶增厚，右冠状动脉瓣叶轻度脱垂，伴有左心室扩张和左心室射血分数临界值。尽管在KPS中已描述了各种心脏异常，但据我们所知，此前尚未有原因不明的严重主动脉瓣反流的报道。该患者接受了一次简单的手术主动脉瓣置换，使用了一个25毫米的美敦力Avalus心包组织瓣膜，症状得到改善。对于KFS患者，术中管理和经食管超声心动图检查可能特别具有挑战性。我们描述了KPS中首例严重主动脉瓣反流的报道病例，回顾了与该综合征相关的心脏异常，并强调了这些患者术中管理的临床挑战。
