家族性原发性肺动脉高压患儿Potts分流一例报告及简要文献回顾

IF 0.3 Q4 PEDIATRICS Journal of Pediatrics Review Pub Date : 2021-07-01 DOI:10.32598/JPR.9.3.913.1
Mahya Mobinikhaledi, A. Shabestari, Y. Ghandi
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引用次数: 0

摘要

家族性肺动脉高压(FPAH)的主要关注点是右心衰的发展,最终导致猝死。尽管最近在药物治疗方面取得了进展,但儿童的死亡率仍然很高,这强调了新型治疗方法的重要性。此外,对于患有严重肺动脉高压的儿童仍然没有明确的治疗方法。右心衰的后果导致了一种手术方法的提出,Potts分流,减压右心室,提供缺氧血液分流到下肢,提高总心输出量。这种手术技术在左肺动脉和降主动脉之间建立了吻合口,为减轻右心室负荷提供了姑息性治疗。病例介绍:我们报告一位患有家族性肺动脉高压和右心衰的11岁女孩,她从Potts分流术中获益,中期结果良好。患者在5岁时被诊断出有昏厥和持续性晕厥的病史。患者接受波生坦、西地那非、乙酰水杨酸、华法林等药物治疗6年。骨形态发生蛋白受体2型(BMPR2)基因的直接测序证实了分子基因检测结果,发现了一个杂合致病突变。由于她被诊断为肺动脉高压(PAH),她失去了祖母、阿姨和父亲。她14岁的妹妹也发生了BMPR2基因突变,但没有发生FPAH。结论:Potts分流术为缓解家族性肺动脉高压合并严重右心衰患者的药物治疗难治性提供了介入手段。它为未来肺移植的可能性打开了大门。我们在放置Potts分流器后的6年内没有发现任何并发症。
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Potts Shunt in Children With Familial Primary Pulmonary Hypertension: A Case Report and Brief Literature Review
Introduction: The primary concern about Familial Pulmonary Arterial Hypertension (FPAH) is the development of right heart failure, which ultimately leads to sudden death. Despite recent advances in pharmacological therapy, the mortality rate in children is still high, emphasizing the importance of novel treatments. Moreover, there is still no definitive treatment for children with severe pulmonary hypertension. The consequences of right heart failure led to the proposal of a surgical approach, the Potts shunt, to decompress the right ventricle, providing shunting of deoxygenated blood to lower extremities and improving overall cardiac output. This surgical technique creates an anastomosis between the left pulmonary artery and the descending aorta, providing a palliative treatment to off-load the right ventricle. Case Presentation: We report an 11-year-old girl with familial pulmonary arterial hypertension and right ventricular failure who benefited from a Potts shunt with good mid-term results. The patient was diagnosed at the age of 5 when she had a history of fainting and persistent syncope. The patient was under medical treatment therapy with bosentan, sildenafil, acetylsalicylic acid, and warfarin for six years. The results of molecular genetic testing, which was confirmed with direct sequencing of the Bone Morphogenetic Protein Receptor Type 2 (BMPR2) gene, revealed a heterozygous pathogenic mutation. Since she was diagnosed with Pulmonary Arterial Hypertension (PAH), she lost her grandmother, an aunt, and father because of PAH. Her 14-year-old sister also had mutated the BMPR2 gene without developing FPAH. Conclusions: The Potts shunt provides an interventional step for palliation of patients with familial pulmonary hypertension and severe right heart failure refractory to medical treatment. It opens the door to the possibility of lung transplantation in the future. We did not see any complications within 6 years after placing the Potts shunt.
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