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Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center

Sebastian Burkart1, Sebastian Sailer2, Daniel Körfer3

  • 1Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany. Sebastian.Burkart@med.uni-heidelberg.de.

Langenbeck'S Archives of Surgery
|June 12, 2026
PubMed

Insights

A specialized vascular genetics clinic effectively integrates genetic testing into routine care for hereditary vascular disorders. This interdisciplinary approach improves clinical management and identifies genetic causes for aneurysms and tumors.

Area of Science:

  • Vascular Genetics
  • Clinical Genetics
  • Hereditary Vascular Disorders

Background:

  • Hereditary vascular disorders exhibit significant clinical and genetic heterogeneity.
  • Integrating molecular diagnostics into routine care for these conditions presents challenges.
  • Genetic testing is crucial for diagnosing aneurysms, dissections, and vascular tumors.

Purpose of the Study:

  • To implement and evaluate an interdisciplinary outpatient clinic for vascular genetics.
  • To systematically integrate genetic diagnostics and counselling into the management of vascular disorders.
  • To analyze clinical and genetic data from patients with aortopathies and carotid paraganglioma.

Main Methods:

  • Established an interdisciplinary vascular genetics outpatient clinic.
  • Selected patients based on clinical recommendations for genetic diagnostics and counselling.
  • Conducted a retrospective analysis of clinical and genetic data from 2021-2025.

Main Results:

  • Pathological genetic findings were identified in 16% of aortic aneurysm/dissection patients and 29% of carotid paraganglioma patients.
  • Multiple clinical predictors did not significantly impact genetic findings in the aneurysm cohort.
  • Increased predictors correlated with more pathogenic variants in the carotid paraganglioma cohort.

Conclusions:

  • A dedicated, interdisciplinary vascular genetics clinic is feasible within routine clinical practice.
  • The structured workflow facilitates the integration of genetics into vascular surgery and related fields.
  • This model provides a blueprint for systematic genetic integration in vascular care.
Abstract

Keywords:
Aortic aneurysmAortic dissectionCarotid ParagangliomaGenetic testingHereditary vascular disordersMultidisciplinary carePrecision medicine

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