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

Hereditary vascular disorders are clinically and genetically heterogeneous, predisposing patients to aneurysms, dissections, or vascular tumours. Despite advances in molecular diagnostics, integration of genetic testing into routine care remains an unmet need and a challenge of high clinical relevance.

Implementation of an interdisciplinary outpatient clinic for vascular genetics evaluations. Patient selection based on current clinical recommendations for genetic diagnostics and counselling for vascular aneurysms/ dissections and carotid paraganglioma (CPGL). Single‑center, retrospective descriptive analysis of systematically recorded clinical and genetic data of all patients attending the Heidelberg specialized vascular-genetic outpatient clinic between 2021 and 2025.

We present five-year experience from a systematic and interdisciplinary clinical pathway for patients with aortopathies or carotid paraganglioma (CPGL), including pre‑visit data capture, interdisciplinary phenotyping, integrated pre‑ and post‑test counselling, and molecular guided clinical management. Pathological genetic findings in our aortic aneurysm/dissection and CPGL cohort were 16% (10/63) and 29% (10/34), respectively. The presence of multiple clinical predictors, defined as key risk indicators including early age at onset, multifocal disease, and positive family history, did not significantly influence the ratio of pathologic genetic findings in the aneurysm cohort, whereas a higher number of predictors was associated with increased number of pathogenic genetic variants in the CPGL cohort.

A dedicated, interdisciplinary vascular genetics clinic can be feasibly implemented within routine clinical care. The proposed structured workflow provides a blueprint to systematically integrate genetics into vascular surgery and related clinical disciplines.