Bridglal Ranjiv-A M
Faculty of Medical Sciences, The University of the West Indies, St. Augustine, TTO.
Cureus. 2024 Aug 20;16(8):e67303. doi: 10.7759/cureus.67303. eCollection 2024 Aug.
Klippel-Feil syndrome is characterized by the congenital synostosis of multiple cervical vertebrae and commonly presents with a multitude of congenital abnormalities, mainly including cardiac and respiratory defects. We present the case of a 39-year-old male with a prolonged history of cardiopulmonary symptoms whose investigations revealed restrictive lung disease, ventricular trigeminy and bigeminy, cervical vertebrae fusion, thoracic lumbar scoliosis, and mild-to-moderate pulmonary hypertension, all consistent with a diagnosis of Klippel-Feil syndrome. His management focused on preventing the progression of these findings while minimizing the effects of his extrinsic pulmonary restriction. Given the lack of guidelines in the management of such patients, this report highlights the role of early diagnosis and adequate management of such patients to reduce its progression and prevent the development of complications.
克-费综合征的特征是多个颈椎先天性融合，通常伴有多种先天性异常，主要包括心脏和呼吸缺陷。我们报告一例39岁男性，有长期心肺症状史，检查发现存在限制性肺病、室性三联律和二联律、颈椎融合、胸腰椎脊柱侧凸以及轻至中度肺动脉高压，所有这些均符合克-费综合征的诊断。他的治疗重点是防止这些症状进展，同时尽量减轻外部肺限制的影响。鉴于此类患者的管理缺乏指南，本报告强调了对此类患者进行早期诊断和适当管理以减少其进展并预防并发症发生的作用。
