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Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations
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Clinical Approaches to the Diagnosis and Treatment of Vascular Anomalies

Arun K Gosain1, Parul Rai1, Emily George1

  • 1From the Division of Plastic Surgery, Ann & Robert H. Lurie Children's Hospital of Chicago.

Plastic and Reconstructive Surgery
|May 27, 2026
PubMed

Insights

Vascular anomalies are classified using the International Society for the Study of Vascular Anomalies framework. Understanding molecular pathways and using targeted therapies like propranolol and sirolimus are key for effective, multidisciplinary management.

Area of Science:

  • Vascular biology and medicine
  • Genetics and molecular pathways
  • Medical imaging and diagnostics

Background:

  • Vascular anomalies present a diverse spectrum of conditions, ranging from minor birthmarks to severe, life-threatening lesions.
  • Accurate classification is crucial for effective treatment, utilizing the International Society for the Study of Vascular Anomalies (ISSVA) biological framework.
  • Recent advances in molecular genetics have identified key mutations driving these anomalies, paving the way for targeted therapies.

Purpose of the Study:

  • To provide a comprehensive overview of vascular anomalies, integrating current knowledge on classification, pathophysiology, and management.
  • To highlight the role of molecular genetics in understanding disease mechanisms and guiding targeted treatment strategies.
  • To outline a systematic diagnostic and management approach for clinicians.

Main Methods:

  • Classification based on the ISSVA biological framework differentiating tumors from malformations.
  • Identification of key molecular pathways (e.g., PI3K/AKT/mTOR, RAS/MAPK) and driver mutations.
  • Integration of clinical presentation, advanced imaging (Doppler ultrasound, MRI), and genetic testing for diagnosis.
  • Review of current therapeutic modalities including pharmacologic agents (propranolol, sirolimus), laser, endovascular, and surgical interventions.

Main Results:

  • Vascular anomalies are heterogeneous, requiring precise classification into tumors or malformations.
  • Molecular insights have revealed critical signaling pathways implicated in their development.
  • Targeted therapies, informed by genetic findings, are revolutionizing treatment approaches.
  • Multidisciplinary management plans are essential for optimizing outcomes.

Conclusions:

  • Effective management of vascular anomalies relies on accurate classification via the ISSVA framework.
  • Understanding the molecular pathophysiology enables targeted medical therapies, such as propranolol and sirolimus.
  • A coordinated, multidisciplinary team approach is vital for addressing the complexity and multisystemic nature of these conditions.
  • Integrating clinical expertise with advanced diagnostics and tailored therapies improves patient outcomes.
Abstract

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