Regeer Madelien V, Stöger J Lauran, Bökenkamp Regina, Lakeman Inge M M, Hazekamp Mark G, Kiѐs Philippine, Egorova Anastasia D, Jongbloed Monique R M
CAHAL, Center for Congenital Heart Disease Amsterdam Leiden, Leiden University Medical Center, Leiden, the Netherlands.
Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands.
Int J Cardiol Congenit Heart Dis. 2023 Jun 30;13:100465. doi: 10.1016/j.ijcchd.2023.100465. eCollection 2023 Sep.
A case of unilateral vascular hypoplasia is presented. A female patient was born with a complex aortic arch anatomy - a double aortic arch with an interrupted left arch. Surgical correction was performed at the age of 3 months. The patient was also noted to have had an ipsilateral large infantile haemangioma. These findings raised the suspicion of the diagnosis of PHACE syndrome. PHACE syndrome is an acronym for Posterior fossa abnormalities, Haemangioma, Arterial anomalies, Cardiac anomalies and Eye anomalies. Future research is needed to elucidate the underlying pathophysiology in PHACE syndrome.
本文报告一例单侧血管发育不全病例。一名女性患者出生时主动脉弓解剖结构复杂——双主动脉弓伴左弓中断。3个月大时进行了手术矫正。该患者还被发现同侧有一个巨大的婴儿血管瘤。这些发现引发了对PHACE综合征诊断的怀疑。PHACE综合征是后颅窝异常、血管瘤、动脉异常、心脏异常和眼部异常的首字母缩写。需要进一步的研究来阐明PHACE综合征的潜在病理生理学机制。
