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

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

  • By

  • Sebastian Burkart

  • Sebastian Sailer

  • Daniel Körfer

  • Felix Marbach

  • Melanie Spanjaard

  • Steffen Hirsch

  • Heiko Brennenstuhl

  • Ilia Valentin

  • Katrin Hinderhofer

  • Julia Dennig

  • Lilian Kaufmann

  • Christian P. Schaaf

  • Dittmar Böckler

  • Nicola Dikow

  • Maja Hempel

  • Philipp Erhart

  • June 13, 2026

  • 0 min

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Clinical Report: Integrative Assessments of Vascular Genetics in Standard Clinical Practice

Overview

This report details findings from a five-year experience at a specialized outpatient clinic for hereditary vascular disorders, highlighting the importance of interdisciplinary evaluation and genetic counseling.

Background

Hereditary vascular disorders are a diverse group of conditions that can lead to serious complications such as aneurysms and dissections. These disorders are often underdiagnosed due to fragmented care and delayed genetic assessments.

Data Highlights

YearPatients EvaluatedPathogenic Variants IdentifiedVariants of Unknown Significance
202197LP/PVUS

Key Findings

  • 97 individuals were evaluated at the Heidelberg interdisciplinary vascular-genetic outpatient clinic between 2021 and 2025.
  • Patients were referred primarily for genetic evaluation due to suspected hereditary vascular diseases.
  • Genetic testing results were categorized into likely pathogenic variants, variants of unknown significance, and no variant reported.
  • Interdisciplinary collaboration between vascular surgeons and clinical geneticists was emphasized as critical for effective patient assessment.
  • The study highlights the need for systematic evaluations of referral patterns and diagnostic yield in hereditary vascular disorders.

Clinical Implications

The findings underscore the necessity of integrating genetic evaluations into the management of hereditary vascular disorders to enhance diagnostic accuracy. Clinicians should consider interdisciplinary approaches to optimize patient care and facilitate timely genetic assessments.

Conclusion

This report contributes to the understanding of how integrated clinical care can be effectively implemented in hereditary vascular disease management, highlighting the importance of specialized evaluation and genetic counseling.

Related Resources & Content

  1. Frontiers in Medicine, 2026 -- Integrative Multivariate Genomic Analysis Reveals Shared Genetic Determinants and Druggable Targets for Vascular Calcification
  2. Pediatric Cardiology, 2024 -- Resources for Genetic Testing and Clinical Approaches in Pediatric Cardiomyopathy Programs
  3. European Journal of Preventive Cardiology, 2024 -- Clinical Assessment Tools Inadequately Detect Familial Hypercholesterolaemia in Pediatric Patients
  4. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease - PMC
  5. Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease - PMC
  6. Genetic Factors Associated with Multiple Arterial Aneurysms in Patients
  7. Utilization of Current ACC/AHA Genetic Testing Recommendations for Thoracic Aortic Disease at a Large Adult Aortic Center
  8. VASCERN HTAD WG Launches Gene Compendia For Heritable Thoracic Aortic Diseases
  9. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines - PMC
  10. Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease - PMC
  11. https://www.evicore.com/sites/default/files/clinical-guidelines/2025-04/MOL.TS_.227.A%20Thoracic%20Aortic%20Aneurysms%20and%20Dissections%20%28TAAD%29%20Panel%20Genetic%20Testing_V2.0.2025_eff07.01.2025_pub04.08.2025_0.pdf
  12. https://academic.oup.com/eurheartj/advance-article-abstract/doi/10.1093/eurheartj/ehaf926/8475675
  13. Vascular Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf
  14. Standardization of Terminology, Definitions, and Outcome Criteria for Bleeding in Hereditary Hemorrhagic Telangiectasia: International Consensus Report - PubMed

Original Source(s)

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

  • by Sebastian Burkart, Sebastian Sailer, Daniel Körfer, Felix Marbach, Melanie Spanjaard, Steffen Hirsch, Heiko Brennenstuhl, Ilia Valentin, Katrin Hinderhofer, Julia Dennig, Lilian Kaufmann, Christian P. Schaaf, Dittmar Böckler, Nicola Dikow, Maja Hempel, Philipp Erhart

  • June 13, 2026

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