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Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
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Systemic and CNS manifestations of inherited cerebrovascular malformations

Blaine L Hart1, Marc C Mabray1, Leslie Morrison2

  • 1Department of Radiology, MSC10 5530, 1 University of New Mexico, Albuquerque, NM 87131, USA.

Clinical Imaging
|January 25, 2021
PubMed

Insights

Genetic cerebrovascular malformations, like cerebral cavernous malformations and hereditary hemorrhagic telangiectasia, have complex causes and potential treatments. Research into their genetic and molecular mechanisms, including microbiome interactions, is advancing rapidly.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Cerebrovascular malformations (CVMs) present in both sporadic and inherited forms.
  • Genetic CVMs, including familial cerebral cavernous malformations and hereditary hemorrhagic telangiectasia, often involve multisystemic manifestations.
  • Understanding the genetic and molecular underpinnings of inherited CVMs is crucial for developing targeted therapies.

Purpose of the Study:

  • To review the imaging and clinical features of genetically based CVMs.
  • To explore the genetic and molecular mechanisms driving inherited CVMs.
  • To discuss current and future treatment prospects for CVMs.

Main Methods:

  • Literature review focusing on genetic cerebrovascular malformations.
  • Analysis of clinical and imaging features of inherited CVMs.
  • Synthesis of current research on genetic mechanisms and potential therapeutic strategies.

Main Results:

  • Inherited CVMs frequently exhibit extra-cranial manifestations in bone, skin, eyes, and visceral organs.
  • Emerging research highlights the role of the intestinal microbiome in cerebral cavernous malformation development.
  • Somatic mutations are implicated in sporadic CVMs, suggesting shared mechanisms with inherited forms.

Conclusions:

  • Advances in understanding genetic and molecular mechanisms offer promising avenues for CVM treatment.
  • Multisystemic involvement in inherited CVMs necessitates a comprehensive clinical approach.
  • Discoveries in inherited CVMs may inform the treatment of sporadic CVMs, emphasizing the interconnectedness of these conditions.

Keywords:
Arteriovenous malformationCapillary malformation-arteriovenous malformationCerebral cavernous malformationCerebrovascular malformationsNeurocutaneous syndrome

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