Juré Jochen, Alexander Patrick
Cardiology, Universitair Ziekenhuis Gent, Gent, BEL.
Pulmonology, Algemeen Ziekenhuis Glorieux, Ronse, BEL.
Cureus. 2024 Dec 26;16(12):e76408. doi: 10.7759/cureus.76408. eCollection 2024 Dec.
Heterotaxy syndrome is characterized by abnormal left-right arrangement of thoracoabdominal organs and is frequently associated with complex cardiac anomalies. However, cases with predominant extracardiac manifestations are increasingly recognized. This report describes a 20-year-old female of North African descent with consanguineous parentage, who presented with chronic cough and exertional dyspnea persisting over several years. Clinical examination, biochemical analyses, and vital signs were unremarkable, and there was no reported history of environmental exposures or tuberculosis. Pulmonary function testing revealed severe airway obstruction, reversible with bronchodilators. Imaging studies demonstrated a diffuse bronchiolitis pattern, an enlarged azygos vein, and polysplenia. Abdominal CT (computed tomography) revealed an interrupted inferior vena cava with azygos continuation, an enlarged left liver, a multinodular spleen, and distal pancreatic atrophy. Methicillin-resistant was identified in bronchoalveolar lavage, and the patient was treated with intravenous vancomycin. Further evaluations, including sinus CT, revealed bilateral frontal sinus aplasia, hypoplasia of other sinuses, and structural abnormalities such as the absence of uncinate processes. Nasal biopsy showed absent ciliary motility, and transmission electron microscopy revealed inner dynein arm defects and central apparatus abnormalities without outer dynein arm involvement. Genetic testing identified a novel homozygous c.2347_2351del (p.Phe783ThrfsTer3) PVS1 null variant in exon 17 of the gene, associated with autosomal recessive primary ciliary dyskinesia-14. This case highlights the overlap between heterotaxy syndrome and primary ciliary dyskinesia, suggesting that the ciliary defect contributed to both the patient's organ laterality defects and chronic respiratory symptoms. The findings underscore the importance of a comprehensive evaluation of structural and functional abnormalities and the role of genetic testing in managing atypical presentations of heterotaxy syndrome.
内脏异位综合征的特征是胸腹器官左右排列异常，常伴有复杂的心脏畸形。然而，以心外表现为主的病例越来越受到关注。本报告描述了一名20岁的北非裔女性，其父母为近亲结婚，她因慢性咳嗽和劳力性呼吸困难持续数年就诊。临床检查、生化分析和生命体征均无异常，且无环境暴露或结核病病史报告。肺功能测试显示严重气道阻塞，使用支气管扩张剂后可逆转。影像学研究显示弥漫性细支气管炎模式、奇静脉扩张和多脾。腹部CT（计算机断层扫描）显示下腔静脉中断并由奇静脉延续、左肝肿大、多结节脾脏和胰腺远端萎缩。支气管肺泡灌洗中发现耐甲氧西林菌，患者接受静脉万古霉素治疗。进一步评估，包括鼻窦CT，显示双侧额窦发育不全、其他鼻窦发育不良以及诸如钩突缺失等结构异常。鼻活检显示纤毛运动缺失，透射电子显微镜显示内侧动力蛋白臂缺陷和中央装置异常，外侧动力蛋白臂未受累。基因检测在该基因第17外显子中发现了一种新的纯合c.2347_2351del（p.Phe783ThrfsTer3）PVS1无效变异，与常染色体隐性原发性纤毛运动障碍-14相关。该病例突出了内脏异位综合征与原发性纤毛运动障碍之间的重叠，表明纤毛缺陷导致了患者的器官定位缺陷和慢性呼吸道症状。这些发现强调了对结构和功能异常进行全面评估的重要性以及基因检测在处理内脏异位综合征非典型表现中的作用。
