日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Portopulmonary hypertension and hepatopulmonary syndrome are distinctive diseases characterized by vasoconstriction and vasodilation, respectively. To date, only a few cases coexisting both clinical states have been reported. Here we present the Noonan syndrome patient with coexisting portopulmonary hypertension and hepatopulmonary syndrome. In this case, the patient with Noonan syndrome was followed-up by cardiac ultrasonography for mild pulmonary stenosis and patent foramen ovale. After pulmonary stenosis and patent foramen ovale improved, pulmonary arterial hypertension and hepatopulmonary syndrome developed over a half year. Coexisting portosystemic shunt was subsequently diagnosed. Administration of bosentan and sildenafil, and home oxygen therapy improved subjective symptoms. On the other hand, the findings of echocardiography had no change in estimated pulmonary arterial pressure. The existence of intrahepatic portal vein was confirmed by liver biopsy and contrast enhanced computer tomography, which provided definitive diagnosis of “congenital extrahepatic portosystemic shunt Type 2”. After the ligation of portosystemic shunt, while pulmonary arterial hypertension remained unchanged, liver function and exercise capacity improved six month after surgery. This case is the first report that shows the ligation was conducted for treatment of congenital extrahepatic portosystemic shunt Type 2 with portopulmonary hypertention and hepatopulmonary syndrome, and provides highly suggestive clinical course to establish a standard therapy for these rare complications coexisted.