Familial Cerebral Cavernous Malformations
Subspecialty: Neurovascular
Type: Clinical Summary
Familial Cerebral Cavernous Malformations (FCCM) are an autosomal dominant vascular disorder in which loss-of-function variants in the endothelial genes KRIT1, CCM2, or PDCD10 produce multiple clustered, endothelial-lined caverns in the brain and spinal cord through disruption of endothelial junctional integrity and dysregulated signaling (including the RhoA-ROCK and MEKK3-KLF2/4 pathways). This update summarizes clinical presentation, neuroimaging and genotype–phenotype correlations, genetic testing strategies, natural history data (including hemorrhage and seizure risks), practical managemen…
Source Papers
- Cerebral cavernous malformations - An overview on genetics, clinical aspects and therapeutic strategies. (2024)
- Familial Cerebral Cavernous Malformations (2019)
- Cerebral Cavernous Malformation: From Mechanism to Therapy. (2021)
- Familial Cerebral Cavernous Malformations (2023)
- Guidelines-for-the-Diagnosis-and-Clinical-Management-of-CCM-2025 (2025)