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Semin intervent Radiol 2024; 41(04): 350-362
DOI: 10.1055/s-0044-1791204
Review Article

What the Interventional Radiologist Needs to Know about the Genetics of Vascular Anomalies

Shellie Josephs
1   Department of Radiology, Texas Children's Hospital North Austin, Austin, Texas
,
Lynne Martin
2   Department of Radiology, Stanford University School of Medicine, Stanford, California
,
Travis Josephs
3   Baylor College of Medicine, Houston, Texas
,
David Hovsepian
2   Department of Radiology, Stanford University School of Medicine, Stanford, California
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Abstract

The purpose of this article is to familiarize the reader with the basic genetics and vascular biology behind the array of vascular anomalies they may encounter in their practice. Individuals with vascular malformations are often referred to multidisciplinary clinics composed of diverse specialists all with the same goal: how to provide the best care possible. The team is typically composed of physicians, nurses, social workers, and technical staff from multiple specialties including diagnostic and interventional radiology, dermatology, hematology/oncology, otolaryngology, plastic surgery, and several additional subspecialties. Imaging plays a crucial role in diagnosis and treatment planning, but increasingly biopsies are needed for more accurate histopathological and genetic information to inform the plan of treatment, as well as for counseling patients and their families on the natural history, heritability, and long-term prognosis of the condition. Understanding the molecular mechanism that gives rise to vascular anomalies is crucial for arriving at the proper diagnosis and choosing among treatment options. As oncological medications are being increasingly repurposed to treat vascular malformations, it is vital for those caring for patients with vascular anomalies to understand how these anomalies develop, and which drug may be appropriate to repurpose for this benign disease.

Keywords

interventional radiology - genetics - hereditary - arteriovenous malformations - venous malformation


Publication History

Article published online:
07 November 2024

© 2024. Thieme. All rights reserved.

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