Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype.
OBJECTIVE
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.


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.
Petersen
T A
TA
Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, NM 87131-0001, USA.
Morrison
L A
LA
Schrader
R M
RM
Hart
B L
BL
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002550:Cerebral Veins / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D020786:Hemangioma, Cavernous, Central Nervous System / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D055815:Young Adult
D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins