Multiple cerebral cavernous malformations associated with extracranial mesenchymal anomalies

Area of Science:

• Vascular biology
• Genetics
• Developmental biology

Background:

• Cerebral cavernous malformations (CCM) are vascular dysplasias with diverse clinical presentations.
• While often sporadic, multiple CCMs suggest a genetic basis, with CCM1-3 genes implicated.
• CCM can co-occur with other vascular and mesenchymal anomalies.

Observation:

• This review focuses on the association between CCM and mesenchymal anomalies.
• A key area of emphasis is the potential shared pathogenetic pathway between CCM and atrial myxomas.
• An illustrative case presents multiple CCM, liver cavernoma, and cardiac atrial myxoma.

Findings:

• CCM and atrial myxomas may share a common origin in abnormal mesenchymal cell differentiation.
• The presented case highlights the co-occurrence of diverse dysplasias stemming from mesenchymal development.
• Genetic factors likely play a role in the pathogenesis of these associated conditions.

Implications:

• Understanding the shared pathways can lead to improved diagnostics and therapeutic strategies for CCM and related disorders.
• Further research into mesenchymal cell differentiation is crucial for unraveling CCM pathogenesis.
• This review underscores the importance of considering systemic mesenchymal abnormalities in patients with CCM.