Venous Malformations: Diagnosis, Management, and Future Directions.

Abstract

Venous malformations (VMs) represent the most common type of congenital vascular anomalies, characterized by slow-flow lesions arising from disorganized angiogenesis. These malformations can vary widely in size, location, and clinical impact, presenting significant challenges in diagnosis and management. A multidisciplinary approach is essential for optimizing care, with goals centered on symptom relief and functional preservation. Diagnostic evaluation typically involves clinical examination, imaging, and, in complex cases, genetic testing. Interventional radiology, particularly sclerotherapy and endovascular embolization, has become the first-line treatment, complemented by surgical and emerging molecular therapies, particularly targeting the mTOR/PI3K/AKT pathway. This review provides a comprehensive examination of the genetics, clinical presentation, and key diagnostic imaging aspects of VMs, along with a detailed discussion of current treatment modalities, emerging therapeutic techniques, and future directions for improving patient care.