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一例继发于JAK2突变型勒夫勒心内膜炎的右侧心力衰竭病例报告。

A case report of right-sided heart failure secondary to JAK2-mutation Loeffler endocarditis.

作者信息

Liu Xi, Liu Limin, Yan Zhiguo, Sun Lin, Ma Menghuai, Xiang Yi, Cai Xiang, Wang Xiaoqi, Yang Wenhui

机构信息

Department of Cardiology, Fuwai Yunnan Hospital, Chinese Academy of Medical Sciences/Affiliated Cardiovascular Hospital of Kunming Medical University, Kunming, People's Republic of China.

Cardiac Arrhythmia Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.

出版信息

ESC Heart Fail. 2024 Dec;11(6):4413-4419. doi: 10.1002/ehf2.15015. Epub 2024 Jul 31.

Abstract

Loeffler's endocarditis (LE) is the cardiac manifestation of hypereosinophilic syndrome. We present a case of LE in a 45-year-old female, resulting in diffuse endothelial fibrosis and severe right-sided heart failure. The patient was admitted with dyspnoea and oedema, with haematology revealing an absolute eosinophil count of 20.9 × 10. Imaging showed near-complete obliteration of the right ventricular apical and formation of thromboses. Endomyocardial biopsy indicated diffuse fibrous hyperplasia of the endocardium with fibrinous thrombi rich in eosinophils. Molecular and cytogenetic analyses of bone marrow cells showed no signs of FIP1L1-PDGFRA fusion, PDGFRB mutation, abnormal myeloid maturation, or a lymphoproliferative disorder. Flow cytometry indicated no clonality, ruling out chronic eosinophilic leukaemia. Gene mutation screening discovered a p.L583_A586delinesS mutation in the JAK2 gene. Following treatment with ruxolitinib, the patient's eosinophil levels normalized, but unfortunately, the damage to the heart was irreversible. The patient was hospitalized multiple times due to right heart failure and resistance to diuretics. After thorough discussions with the medical team, it was determined that a heart transplantation would be the most effective treatment. Following the surgery, the patient successfully navigated the postoperative critical period with the support of an intra-aortic balloon pump (IABP), continuous renal replacement therapy (CRRT), and ventilator-assisted ventilation but subsequently developed an acquired Intensive care unit-acquired weakness (ICU-AW) and a depressive state. Fortunately, the patient gradually recovered from these complications.

摘要

吕弗勒心内膜炎(LE)是嗜酸性粒细胞增多综合征的心脏表现。我们报告一例45岁女性的LE病例,该病例导致弥漫性内皮纤维化和严重的右侧心力衰竭。患者因呼吸困难和水肿入院,血液学检查显示绝对嗜酸性粒细胞计数为20.9×10。影像学检查显示右心室心尖几乎完全闭塞并形成血栓。心内膜活检显示心内膜弥漫性纤维增生,伴有富含嗜酸性粒细胞的纤维蛋白血栓。骨髓细胞的分子和细胞遗传学分析未显示FIP1L1 - PDGFRA融合、PDGFRB突变、异常髓系成熟或淋巴增殖性疾病的迹象。流式细胞术显示无克隆性,排除了慢性嗜酸性粒细胞白血病。基因突变筛查发现JAK2基因存在p.L583_A586delinesS突变。使用鲁索替尼治疗后,患者的嗜酸性粒细胞水平恢复正常,但不幸的是,心脏损伤已不可逆。患者因右心衰竭和对利尿剂耐药多次住院。与医疗团队进行充分讨论后,确定心脏移植将是最有效的治疗方法。手术后,患者在主动脉内球囊泵(IABP)、持续肾脏替代疗法(CRRT)和呼吸机辅助通气的支持下成功度过术后危险期,但随后出现了重症监护病房获得性肌无力(ICU - AW)和抑郁状态。幸运的是,患者逐渐从这些并发症中康复。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eeae/11631239/29e48d548b72/EHF2-11-4413-g001.jpg

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