MediAI

  Cavernous Malformation: Comprehensive Overview   1. Causes (Etiology) Cavernous malformations (CMs) are vascular abnormalities of the central nervous system (CNS) and, less frequently, other organs. They may arise sporadically or genetically . Sporadic CMs : Most common (~80% of cases). Typically isolated lesions without a family history. Often associated with adjacent developmental venous anomalies (DVAs), which may contribute to their genesis via local venous hypertension and hemorrhage. Familial CMs : Account for ~20% of cases. Inherited in an autosomal dominant manner with incomplete penetrance and variable expressivity . Associated genes: CCM1 (KRIT1 gene, chromosome 7q21-22) CCM2 (MGC4607 gene, chromosome 7p13) CCM3 (PDCD10 gene, chromosome 3q26.1) Patients typically harbor multiple lesions throughout life, and lesions may increase in number over time. 2. Pathogenesis...