Paediatric and Congenital Cardiology, Department of Cardiology, Institut Mutualiste Montsouris, 75014 Paris, France; Department of Paediatric Radiology, Bicêtre Hospital, AP-HP, Paris-Saclay, 94275 Le Kremlin-Bicêtre, France.
Department of Paediatric Hepatology and Liver Transplantation Unit, Bicêtre Hospital, AP-HP, Paris-Saclay, 94275 Le Kremlin-Bicêtre, France; Centre de Référence des Maladies Vasculaires du Foie (MVF), Filière de Santé des Maladies Rares du Foie de l'Enfant et de l'Adulte (FILFOIE), European Reference Network RARE-LIVER, FHU Hepatinov, Bicêtre Hospital, AP-HP, Paris-Saclay University Hospitals, 94275 Le Kremlin-Bicêtre cedex, France.
Arch Cardiovasc Dis. 2021 Mar;114(3):221-231. doi: 10.1016/j.acvd.2020.10.003. Epub 2020 Dec 3.
Congenital portosystemic shunts are rare vascular malformations that may have an impact on the heart-lung system. Associated congenital and/or acquired heart diseases are poorly reported.
To analyse cardiovascular disorders within a large congenital portosystemic shunt population, and develop a diagnostic strategy.
Among the 168 consecutive fetuses and children referred for congenital portosystemic shunt (1996-2019), patients presenting with at least one cardiovascular disorder, including congenital heart disease, heart failure, portopulmonary hypertension and/or hepatopulmonary syndrome, were reviewed retrospectively. Cardiovascular disorders were detected using echocardiography and one or more of the following: right-sided heart catheterization; contrast-enhanced transthoracic echocardiography; or lung perfusion radionuclide scan.
Overall, 46/168 patients with a congenital portosystemic shunt (27.4%) had one or more clinically significant cardiovascular disorders. Congenital heart disease was present in 28 patients, including six with left heterotaxy. Heart failure was present in six fetuses and 21 neonates (eight without congenital heart disease, and 13 with congenital heart disease). In neonates without congenital heart disease, heart function recovered by the age of 3years. Portopulmonary hypertension was identified in 11 patients (mean age at diagnosis: 9years); it was fatal in one patient, and remained stable in five of six patients after congenital portosystemic shunt closure. In six patients, hepatopulmonary syndrome presented as hypoxia (mean age at diagnosis: 5.3years), which reversed after congenital portosystemic shunt closure.
Evaluation and monitoring of the cardiopulmonary status of patients with a congenital portosystemic shunt is mandatory to detect and prevent cardiovascular complications. Furthermore, congenital portosystemic shunts must be sought in patients with unexplained cardiovascular disorders, especially when malformations are present.
先天性门体分流是一种罕见的血管畸形，可能对心肺系统产生影响。相关的先天性和/或后天性心脏病报道较少。
分析大型先天性门体分流人群中的心血管疾病，并制定诊断策略。
在 1996 年至 2019 年期间，168 例连续就诊的先天性门体分流胎儿和儿童中，回顾性分析了至少存在一种心血管疾病（包括先天性心脏病、心力衰竭、门肺高压和/或肝肺综合征）的患者。心血管疾病通过超声心动图和以下一种或多种方法检测：右心导管检查；对比增强经胸超声心动图；或肺灌注放射性核素扫描。
共有 46/168 例先天性门体分流患者（27.4%）存在一种或多种有临床意义的心血管疾病。28 例患者存在先天性心脏病，包括 6 例左位心异构。6 例胎儿和 21 例新生儿存在心力衰竭（其中 8 例无先天性心脏病，13 例有先天性心脏病）。在无先天性心脏病的新生儿中，心脏功能在 3 岁时恢复。11 例患者诊断为门肺高压（平均诊断年龄：9 岁）；1 例死亡，6 例先天性门体分流关闭后 5 例稳定。6 例患者表现为缺氧的肝肺综合征（平均诊断年龄：5.3 岁），先天性门体分流关闭后逆转。
必须评估和监测先天性门体分流患者的心肺状态，以发现和预防心血管并发症。此外，必须在有不明原因心血管疾病的患者中寻找先天性门体分流，尤其是在存在畸形时。
