University of Toronto, Toronto, Ontario, Canada.
Pediatrics. 2011 Jun;127(6):e1615-20. doi: 10.1542/peds.2010-2366. Epub 2011 May 2.
High-flow hepatic vascular anomalies with arteriovenous shunting commonly manifest during the neonatal period with signs and symptoms of congestive heart failure, but to our knowledge, they have never been described in patients with hereditary hemorrhagic telangiectasia (HHT). We report here our experience with 3 patients with hepatic arteriovenous malformations (AVMs) who presented with symptoms of high-output congestive heart failure during the neonatal period and were subsequently diagnosed with HHT. Imaging showed large hypervascular lesions and multiple hepatic arteriovenous shunts that differentiated these lesions from liver hemangiomas. Transcatheter embolization was performed in all cases. One infant died of sepsis shortly after embolization; follow-up at the age of 2.5 years of the surviving infants revealed involution of the vascular lesions and no evidence of symptom recurrence. We conclude that severe symptoms related to hepatic AVMs in HHT can occur in the neonatal period and that HHT should therefore be included in the differential diagnosis of symptomatic neonatal hepatic vascular malformations. Imaging plays a key role in differentiating hepatic AVMs from hemangiomas, because the latter require additional pharmacologic treatments. Early transcatheter embolization seems to be effective, but long-term outcomes still need to be assessed.
高流量肝血管异常伴动静脉分流在新生儿期常表现为充血性心力衰竭的症状和体征，但据我们所知，它们从未在遗传性出血性毛细血管扩张症（HHT）患者中描述过。我们在此报告 3 例肝动静脉畸形（AVM）患者的经验，这些患者在新生儿期出现高输出性充血性心力衰竭的症状，并随后被诊断为 HHT。影像学显示大的富血管病变和多个肝动静脉分流，将这些病变与肝血管瘤区分开来。所有病例均进行了经导管栓塞。一例婴儿在栓塞后不久死于败血症；对幸存婴儿的 2.5 岁随访显示血管病变的消退，且无症状复发的证据。我们得出结论，HHT 相关的严重肝 AVM 症状可在新生儿期发生，因此 HHT 应纳入有症状的新生儿肝血管畸形的鉴别诊断。影像学在区分肝 AVM 与血管瘤方面起着关键作用，因为后者需要额外的药物治疗。早期经导管栓塞似乎有效，但仍需要评估长期结果。
