Pediatric vascular malformations: pathophysiology, diagnosis, and the role of interventional radiology

Area of Science:

• Vascular biology and medicine
• Developmental biology
• Medical genetics

Background:

• Vascular anomalies are localized defects in blood vessels, stemming from errors in vascular morphogenesis.
• The Mulliken and Glowacki classification (1982) distinguishes hemangiomas from vascular malformations based on endothelial characteristics.
• Vascular malformations are further classified into high-flow (e.g., arteriovenous malformations) and low-flow (e.g., venous, lymphatic) types.

Purpose of the Study:

• To provide a comprehensive review of vascular malformations.
• To detail the clinical features, underlying genetics, diagnostic approaches, and current treatment strategies for vascular malformations.

Main Methods:

• Literature review focusing on vascular malformations.
• Analysis of existing classification systems for vascular anomalies.
• Synthesis of information on clinical presentation, etiology, and therapeutic interventions.

Main Results:

• Vascular malformations represent a specific category of vascular anomalies with distinct clinical and etiological profiles.
• Classification into high-flow and low-flow subtypes guides understanding of their pathophysiology.
• Treatment strategies are tailored to the specific type, location, and clinical impact of the malformation.

Conclusions:

• Understanding the classification and characteristics of vascular malformations is crucial for effective management.
• Advances in genetics and diagnostics are improving the identification and characterization of these lesions.
• Personalized treatment approaches are essential for optimizing outcomes in patients with vascular malformations.