PT  - JOURNAL ARTICLE
AU  - Petersen, T.A.
AU  - Morrison, L.A.
AU  - Schrader, R.M.
AU  - Hart, B.L.
TI  - Familial versus Sporadic Cavernous Malformations: Differences in Developmental Venous Anomaly Association and Lesion Phenotype
AID  - 10.3174/ajnr.A1822
DP  - 2010 Feb 01
TA  - American Journal of Neuroradiology
PG  - 377--382
VI  - 31
IP  - 2
4099  - http://www.ajnr.org/content/31/2/377.short
4100  - http://www.ajnr.org/content/31/2/377.full
SO  - Am. J. Neuroradiol.2010 Feb 01; 31
AB  - BACKGROUND AND PURPOSE: CCMs are commonly associated with DVAs, 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 a DVA in the presence of a CCM in sporadic and familial CCM cases comprising predominantly familial CCM with the Southwestern US common Hispanic mutation (or Q455X mutation) of CCM1. MATERIALS AND METHODS: Retrospective review was performed of 112 patients identified with CCM. MR imaging review included the presence or absence of a DVA and number, location, size, and signal-intensity characteristics of CCMs. Record review included patient and family history and documented genetic mutations. Statistical analysis was performed by using the Fisher exact and 2-sample t tests. RESULTS: Eighty-one 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 groups, respectively. There was a close association of CCM and DVA (an apparent combined vascular lesion) in 8 of 18 (44%) sporadic cases and only 1 possible such association in the familial cases. The difference was highly statistically significant (P < .0001). CONCLUSIONS: Familial CCMs are unlikely to be associated with DVAs, 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. CCMcerebral cavernous malformationDVAdevelopmental venous anomalyFLAIRfluid-attenuated inversion recoveryFSEfast spin-echoGRgradient recallSEspin-echoSWIsusceptibility-weighted imaging