Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry)
Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry)
复制标题
DOI：
10.1016/j.amjcard.2013.08.025
复制
发表时间：
2013-12-15
影响因子：
2.8
通讯作者：
Drolet, Beth A.
中科院分区：
文献类型：
--
作者：
Bayer, Michelle L.;Frommelt, Peter C.;Drolet, Beth A.
PHACE 综合征代表头部和颈部的大婴儿血管瘤与脑、脑血管、心脏、眼部和腹侧或中线缺陷的关联。心脑血管异常是 PHACE 最常见的皮外特征，也是潜在发病率的最大来源。 PHACE 中的先天性心脏病尚未完全描述，本研究旨在更好地表征其特征。国际 PHACE 综合征登记处的这项研究是迄今为止对 PHACE 患者心血管异常的临床、放射学和组织病理学数据进行的最大规模的集中审查。 150 名受试者中有 62 名 (41%) 存在心内、主动脉弓或头臂血管异常。锁骨下动脉异常起源是最常见的心血管异常（150 名受试者中有 31 名（21%）存在）。缩窄是第二常见的异常，在 150 名受试者中有 28 名 (19%) 发现，并且在 PHACE 患者中临床上可能被漏诊，因为弓形阻塞经常与异常锁骨下起源相关。 62 名患有心血管异常的受试者中有 23 名 (37%) 需要程序干预。缩窄患者的血管瘤位于头部和颈部左侧的比例更高（46% vs 39%）；然而，血管瘤的分布并不能预测总体心血管异常的存在。总之，PHACE 与先天性心脏病的高风险相关。对于任何怀疑患有 PHACE 的患者来说，心脏和主动脉弓成像以及对弓部通畅性和头臂起源的详细评估至关重要。需要进行纵向研究来确定 PHACE 中心血管异常的长期结果。 (C) 2013 Elsevier Inc. 保留所有权利。
PHACE syndrome represents the association of large infantile hemangiomas of the head and neck with brain, cerebrovascular, cardiac, ocular, and ventral or midline defects. Cardiac and cerebrovascular anomalies are the most common extracutaneous features of PHACE, and they also constitute the greatest source of potential morbidity. Congenital heart disease in PHACE is incompletely described, and this study was conducted to better characterize its features. This study of the International PHACE Syndrome Registry represents the largest central review of clinical, radiologic, and histopathologic data for cardiovascular anomalies in patients with PHACE to date. Sixty-two (41%) of 150 subjects had intracardiac, aortic arch, or brachiocephalic vessel anomalies. Aberrant origin of a subclavian artery was the most common cardiovascular anomaly (present in 31 (21%) of 150 subjects). Coarctation was the second most common anomaly, identified in 28 (19%) of 150 subjects, and can be missed clinically in patients with PHACE because of the frequent association of arch obstruction with aberrant subclavian origin. Twenty-three (37%) of 62 subjects with cardiovascular anomalies required procedural intervention. A greater percentage of hemangiomas were located on the left side of the head and neck in patients with coarctation (46% vs 39%); however, hemangioma distribution did not predict the presence of cardiovascular anomalies overall. In conclusion, PHACE is associated with a high risk of congenital heart disease. Cardiac and aortic arch imaging with detailed assessment of arch patency and brachiocephalic origins is essential for any patient suspected of having PHACE. Longitudinal investigation is needed to determine the long-term outcomes of cardiovascular anomalies in PHACE. (C) 2013 Elsevier Inc. All rights reserved.