Laimoud Mohamed, Alanazi Ziyad, Alahmadi Fayez, Aldalaan Abdullah
Cardiac Surgery Critical Care Department, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Critical Care Medicine Department, Cairo University, Cairo, Egypt.
Case Rep Cardiol. 2023 Aug 22;2023:4846338. doi: 10.1155/2023/4846338. eCollection 2023.
Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary arterial hypertension characterized by diffuse venous vasculopathy and increased pulmonary vascular resistance resulting in right-sided heart failure. . A 22-year-old female patient started to have dyspnea with minimal effort and was diagnosed to have pre-capillary pulmonary hypertension (PH) with right-sided heart failure. Initially, she was diagnosed to have idiopathic PH. She developed life-threatening pulmonary oedema and cardiogenic shock after pulmonary vasodilator therapy. A genetic study was done and revealed the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene on chromosome 15, which was diagnostic to heritable PVOD. After failure to achieve hemodynamic stabilization with conventional cardiopulmonary support measures, extracorporeal membrane oxygenation (ECMO) supported her till bilateral lung transplantation, which was unfortunately complicated by acute graft rejection. After a prolonged intensive care unit stay with 4-month ECMO support, the second bilateral lung transplantation was done, and the patient survived and was discharged.
Clinical recognition of PVOD is crucial due to its challenging diagnosis, need for genetic study, rapid deterioration with pulmonary vasodilators, and bad prognosis. Lung transplantation is the definitive treatment for eligible candidates.
肺静脉闭塞病（PVOD）是一种罕见的肺动脉高压形式，其特征为弥漫性静脉血管病变和肺血管阻力增加，导致右心衰竭。一名22岁女性患者开始出现轻微活动后呼吸困难，被诊断为毛细血管前性肺动脉高压（PH）伴右心衰竭。最初，她被诊断为特发性PH。在接受肺血管扩张剂治疗后，她出现了危及生命的肺水肿和心源性休克。进行了基因研究，发现15号染色体上的真核翻译起始因子2α激酶4（EIF2AK4）基因，这对遗传性PVOD具有诊断意义。在常规心肺支持措施未能实现血流动力学稳定后，体外膜肺氧合（ECMO）支持她直至进行双侧肺移植，但不幸的是出现了急性移植物排斥反应并发症。在重症监护病房长时间住院并接受4个月的ECMO支持后，进行了第二次双侧肺移植，患者存活并出院。
由于PVOD诊断具有挑战性、需要进行基因研究、使用肺血管扩张剂后病情迅速恶化以及预后不良，因此对其进行临床识别至关重要。肺移植是符合条件患者的确定性治疗方法。
