| Cerebral Cavernous Malformation mutation |
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;G)
|
6.7
|
Cerebral Cavernous Malformation mutation
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Familial cerebral cavernous malformation (FCCM) is a vascular malformation disorder characterized by closely clustered irregular dilated capillaries (caverns) that can cause variable neurological manifestations such as seizures, nonspecific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.
- Mutations in the CCM2, KRIT1, and PDCD10 genes may lead to FCCM.
- Regular check-ups, generally with an MRI once a year, are recommended after the discovery of a CCM, as additional asymptomatic lesions may appear with time.
- Surgical removal of CCMs has traditionally been indicated for lesions associated with intractable seizures or focal deficits from recurrent hemorrhage or mass effect.
- Pregnant women with FCCM who have had recent brain or spinal cord hemorrhage, epilepsy, or migraine require closer monitoring during pregnancy.
- Individuals with FCCM mutations should avoid antithrombotic and certain analgesic medications, and also avoid radiation.
The full ClinGen Actionability report about Cerebral cavernous malformations (CCMs) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
