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

We report the case of a 14-year-old girl with diffuse pulmonary arteriovenous malformations (PAVM) associated with mutations of the endoglin (ENG) gene (p. Ala160del, c.479_481 delCTG; ex4). She was diagnosed at 9 years of age and had undergone percutaneous transcatheter embolization (TCE) five times since the diagnosis. However, the effects were limited. Initial oxygen saturation after coil embolization was over 90%, gradually falling to 80% after every treatment. With diffuse PAVM, embolization of the fistulas or feeding vessels still leaves a chance for enlargement of another feeding vessel. Enlarged feeding vessels increase fistula inflow and consequently induce PAVM development and hypoxia. We considered this as the cause of the repeated hypoxemia. Because embolization of the fistulas alone did not seem sufficient to interrupt the blood supply, we decided to perform coil embolizations and sacrifice normal pulmonary artery trees. Occluding normal pulmonary arteries is known to reduce pulmonary capillary beds and can induce pulmonary arterial hypertension. However, to improve hypoxemia, we considered that TCE with sacrifice of normal pulmonary arteries would be necessary. Repeated TCE brought about a good clinical course without pulmonary artery pressure elevation. TCE with sacrifice of normal pulmonary arteries may offer a promising and effective choice of treatment in some cases of PAVM. It is necessary to pay close attention to the development of pulmonary arterial hypertension in long-term follow-up.