Vascular Malformations and Anomalies Diagnostics

Vascular malformations and anomalies encompass a heterogeneous group of congenital and sporadic disorders characterised by abnormal blood or lymphatic vessel formation. Under the International Society for the Study of Vascular Anomalies (ISSVA) framework, lesions are classified as either low-flow (capillary, venous, lymphatic) or high-flow (arteriovenous) malformations, each with distinct clinical courses and risks of pain, bleeding, thrombosis and organ dysfunction. Traditional diagnosis has relied on a combination of clinical examination, Doppler ultrasound and magnetic resonance imaging to define flow dynamics and lesion extent. Recent advances have integrated molecular diagnostics—particularly next-generation sequencing of affected tissue—to identify somatic mutations in key signalling pathways such as PI3K/AKT/mTOR and RAS/MAPK. This genetic stratification informs targeted therapy, exemplifying a shift towards precision medicine in the field. Imaging modalities remain indispensable for baseline characterisation and monitoring, while patient-derived in vitro and in vivo models are enabling functional validation of pathogenic variants. Multidisciplinary care teams now coordinate radiological, surgical, interventional and pharmacological interventions to optimise outcomes. Globally, improved diagnostic algorithms and emerging systemic treatments promise to reduce morbidity, enhance quality of life and curtail recurrent procedures in patients with complex vascular anomalies.

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Vascular Malformations and Anomalies Diagnostics publication trend

The graph below shows the total number of articles in vascular malformations and anomalies diagnostics across all publications each year (not limited to Nature Index journals).

Technical terms

Vascular malformation: A congenital anomaly of blood or lymphatic vessels characterised by structural vessel abnormalities and abnormal flow dynamics.

Somatic mutation: A post-zygotic genetic alteration occurring in non-germline cells, leading to mosaic distribution of mutant tissue.

PI3K/AKT/mTOR pathway: A central intracellular signalling cascade regulating cell growth, survival and angiogenesis, frequently activated by PIK3CA or TEK mutations.

Induced pluripotent stem cells (iPSCs): Somatic cells reprogrammed to a pluripotent state, capable of differentiating into various lineages including endothelial cells for disease modelling.

Endothelial cell: The specialised cell type lining blood and lymphatic vessels, whose abnormal proliferation or differentiation underlies vascular anomalies.

References

1. Targeted therapy for capillary-venous malformations. Signal Transduction and Targeted Therapy (2024).
2. Generation of iPSC-derived human venous endothelial cells for the modeling of vascular malformations and drug discovery. Cell Stem Cell (2024).
3. Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. Journal of Clinical Investigation (2018).
4. ISSVA Classification of Vascular Anomalies and Molecular Biology. International Journal of Molecular Sciences (2022).