Abstract：
High-flow vascular malformations have been associated with multiple syndromes including capillary malformation-arteriovenous malformation (CM-AVM) syndrome, hereditary hemorrhagic telangiectasia syndrome, and less commonly, phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We present a series of three patients with clinically challenging complex AVMs who were found to have underlying PHTS. In all patients, diagnosis was delayed, and the presence of the AVM prompted sampling and genetic testing for PHTS in the absence of other clinical features of the condition. This series highlights the importance of screening for PHTS in the setting of high-flow vascular malformations.
摘要：
高流量血管畸形与多种综合征相关，包括毛细血管畸形-动静脉畸形（CM-AVM）综合征，遗传性出血性毛细血管扩张综合征,不太常见，磷酸酶和张力蛋白同源物错构瘤肿瘤综合征(PHTS)。我们介绍了一系列三名具有临床挑战性的复杂AVM的患者，他们被发现具有潜在的PHTS。在所有患者中，诊断延迟,在没有其他临床特征的情况下，AVM的存在促使对PHTS进行采样和基因检测。本系列强调了在高流量血管畸形中筛查PHTS的重要性。
