[Hereditary vascular malformations: classification, symptoms, diagnostics and prognosis].

Area of Science:

• Vascular biology and medicine
• Medical imaging
• Genetics and hereditary diseases

Context:

• Historically, unclear terminology hindered understanding of hereditary vascular anomalies.
• Current classification by the International Society for the Study of Vascular Anomalies (ISSVA) distinguishes vascular tumors from malformations (VMs).
• VMs are defects in vascular morphogenesis, categorized by predominant vessel type (venous, arterial, capillary, lymphatic, arteriovenous, or combined).

Purpose:

• To clarify the classification and understanding of vascular anomalies.
• To outline the diagnostic imaging modalities for various vascular malformations.
• To highlight factors influencing the prognosis of patients with vascular anomalies.

Summary:

• Vascular malformations (VMs) present with diverse symptoms including pain, swelling, skin changes, and potential complications like thrombophlebitis, chronic venous insufficiency, ischemic necroses, or cardiac failure.
• Diagnostic imaging includes ultrasound for flow, MRI for morphology and organ involvement, phlebography/varicography for venous anomalies, and digital subtraction angiography for arteriovenous VMs.
• Prognosis is determined by lesion size, location, internal pressure, and flow rate, emphasizing the need for specialized interdisciplinary care.

Impact:

• Improved diagnostic accuracy and patient stratification through standardized classification.
• Enhanced understanding of the pathophysiology and clinical presentation of vascular anomalies.
• Guidance for optimal management strategies in specialized centers for rare vascular diseases.