Cavernous angiomas: deconstructing a neurosurgical disease.

Area of Science:

• Neuroscience
• Genetics
• Vascular Biology

Background:

• Cavernous angioma (CA), or cerebral cavernous malformation (CCM), presents sporadically or as an autosomal dominant inherited disorder.
• Familial CA results from germline mutations in CCM1/KRIT1, CCM2/Malcavernin, or CCM3/PDCD10, causing multifocal brain and spinal cord lesions.

Purpose of the Study:

• To review the pathology, clinical and radiological features, natural history, and evidence-based management of CA.
• To discuss genetic similarities in sporadic and familial lesions and the pathobiology of CAs.
• To introduce the concept of CA with symptomatic hemorrhage (CASH) and its clinical relevance.

Main Methods:

• Literature review of CA pathology, genetics, natural history, and management.
• Discussion of pathobiological mechanisms including inflammation, angiogenesis, microbiome factors, and anticoagulant domains.
• Exploration of imaging and plasma biomarkers and therapeutic targets.

Main Results:

• Identified cardinal features of CA disease pathology and clinical radiological findings.
• Summarized key aspects of CA natural history and management guidelines.
• Highlighted evidence of shared genetic defects and implications for pathobiology.

Conclusions:

• CA is a paradigm for deconstructing neurosurgical diseases.
• Pathobiological mechanisms drive the development of biomarkers and therapeutic targets for CA.
• Understanding CA's genetic basis and pathobiology is crucial for clinical care and research.