Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype.
Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype.
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DOI：
10.3174/ajnr.a1822
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发表时间：
2010-02
期刊：
影响因子：
--
通讯作者：
Hart BL
中科院分区：
文献类型：
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作者：
Petersen TA;Morrison LA;Schrader RM;Hart BL
脑海绵状血管畸形（CCM）通常与发育性静脉异常（DVA）相关，但在家族性CCM中相关性的发生率尚不清楚。由于存在静脉引流受损的风险，DVA的存在使CCM的手术管理显著复杂化。在这项研究中，我们比较了在散发性和家族性CCM病例中存在CCM时DVA的发生率，这些病例主要由家族性CCM和美国西南部常见的西班牙裔CCM 1突变（或Q455X突变）组成。对112例CCM患者进行了回顾性分析。MRI检查包括是否存在DVA，以及CCM的数量、位置、大小和信号特征。记录审查包括患者和家族史以及记录的基因突变。使用Fisher精确检验和双样本t检验进行统计学分析。81例为家族性，18例为散发性，13例为不确定性。共有2212例CCM：家族性2176例，散发性21例，不确定性15例。在18例散发病例中有8例（44%）CCM和DVA（一种明显的联合血管病变）密切相关，而在家族性病例中只有一种可能的相关性。差异具有高度统计学显著性（p < 0.0001）。家族性CCM不太可能与DVA相关，散发性CCM与DVA的相关性很高。家族性和散发性CCM的影像学特征的差异提示了不同发育机制的可能性。
Cerebral cavernous malformation (CCM) is commonly associated with a developmental venous anomaly (DVA), but the incidence of association in familial CCM is unknown. The presence of a DVA significantly complicates surgical management of a CCM because of the risk of compromised venous drainage. In this investigation, we compared the incidence of DVA in the presence of CCM in sporadic and familial CCM cases comprised predominantly of familial CCM with the southwestern U.S. common Hispanic mutation (or Q455X mutation) of CCM1. Retrospective review was performed of 112 patients identified with CCM. MRI review included presence or absence of DVA, and numbers, location, size and signal characteristics of CCMs. Record review included patient and family history and documented genetic mutations. Statistical analysis was performed using Fisher’s Exact Test and 2 sample t test. 81 cases were familial, 18 were sporadic, and 13 were indeterminate. There were a total of 2212 CCMs: 2176, 21, and 15 in the familial, sporadic, and indeterminate cases, respectively. There was close association of CCM and DVA (an apparent combined vascular lesion) in 8 of 18 (44%) sporadic cases and only one possible such association in the familial cases. The difference is highly statistically significant (p < 0.0001). Familial CCMs are unlikely to be associated with DVA, and sporadic CCMs have a high rate of association with DVA. This difference in imaging features of familial and sporadic CCMs suggests the possibility of a different developmental mechanism.