Abernethy Malformation: Possible Diagnosis for Patients with Congenital Heart Disease and Persistent Cyanosis

ABSTRACT Clinical data: Infant, nine months of age, female, diagnosed with congenital heart disease, with signs of heart failure associated with cyanosis and difficulty in gaining weight. Chest radiography: Cardiomegaly with prevalence of pulmonary vascular network. Electrocardiogram: Ectopic atrial rhythm with right ventricular overload and left anterosuperior divisional block. Echocardiogram: Single atrium with absent interatrial septum, atrioventricular connection with a single valve and two orifices, with increased pulmonary pressure and high Qp/Qs. Computed tomography: Absence of portal vein and intrahepatic segment of the inferior vena cava. Infrahepatic portion continuing with the azygos system at the level of the thoracic cavity, presence of mesenteric-caval communication associated with signs suggestive of hepatic peribiliary fibrosis. Diagnosis: Abernethy malformation is a rare condition and represents an extrahepatic portosystemic shunt that develops between the mesenteric-portal vasculature and the systemic veins. It may be associated with cardiac malformations and advance with pulmonary hypertension and even the need for liver transplantation. Persistent cyanosis after corrective surgery led to a deeper investigation and correct diagnosis of this malformation. Operation: Sternotomy with 68 minutes of cardiopulmonary bypass and nine minutes of total circulatory arrest. In the postoperative period, persistence of cyanosis was evident, even though there were no immediate complications. Patient was discharged on the 10th postoperative day. An abdominal computed tomography angiography confirmed the diagnosis of Abernethy type I malformation, and the patient was transferred for liver transplantation after congenital heart disease treatment.

摘要
临床资料：患儿为9月龄女性，诊断为先天性心脏病，伴心力衰竭体征，表现为发绀及体重增长困难。
胸部X线检查：心脏增大，肺血管纹理增多。
心电图：异位房性心律，伴右心室负荷过重及左前上分支传导阻滞。
超声心动图：单心房，房间隔缺如；房室连接仅见单一瓣膜伴两个开口，肺动脉压力升高，肺循环/体循环流量比（Qp/Qs）增高。
计算机断层扫描（CT）：门静脉及下腔静脉肝内段缺如；肝下段下腔静脉在胸腔水平与奇静脉系统延续，存在肠系膜-腔静脉交通，伴肝内胆道周围纤维化征象。
诊断：阿贝内西畸形（Abernethy malformation）是一种罕见病症，指发生于肠系膜门静脉血管与体循环静脉之间的肝外型门体分流。该畸形可合并心脏畸形，可进展为肺动脉高压，甚至需行肝移植。矫正手术后仍持续发绀，遂行进一步检查并明确诊断该畸形。
手术：经胸骨正中切口，体外循环时长68分钟，全循环停搏时长9分钟。术后阶段虽无即时并发症，但仍可见发绀持续存在。患儿于术后第10日出院。腹部CT血管造影确诊为I型阿贝内西畸形，患儿在接受先天性心脏病治疗后被转院行肝移植。