German multicenter biobank and registry for phenotype-specific genomic research in thoracic aortic disease

To establish a national multicentre biobank and registry for future genomic and genotype-phenotype studies of distinct thoracic aortic disease entities and to report the study design and current recruitment status.

A prospective multicenter registry with integrated biobanking was established in May 2024 across eight German vascular and cardiovascular centres. Patients with Stanford type B aortic dissection (STBAD), thoracic aortic aneurysm (TAA), intramural hematoma (IMH), or penetrating aortic ulcer (PAU) were enrolled. Clinical characteristics, treatment, imaging parameters, and longitudinal outcomes were collected in a centralized pseudonymized database, and EDTA blood samples were stored at - 80 °C for future genomic analyses. An established retrospective Heidelberg cohort of 118 patients with isolated STBAD serves as a hypothesis-generating cohort, while the prospective multicenter cohort provides an independent population for subsequent validation and extension of genetic findings. No genomic analyses were performed for the present report.

As of May 2026, 274 patients had been included: 118 patients with STBAD from the hypothesis-generating Heidelberg cohort and 156 patients from the prospective multicenter cohort comprising 84 patients with STBAD, 40 with TAA, 13 with IMH, and 19 with PAU. The most prominent descriptive difference between disease entities was age distribution. Among patients with STBAD, 116/202 (57.4%) were younger than 60 years, compared with 6/40 (15.0%) with TAA, 2/13 (15.4%) with IMH, and 2/19 (10.5%) with PAU. A positive family history of thoracic aortic disease was reported in 14 patients (5.1%), and hypermobility or other connective tissue features were documented in 12 patients (4.4%), and two patients (0.7%) had a documented connective tissue disorder. Overall, 217 patients (79.2%) underwent surgical or endovascular treatment. Median imaging follow-up ranged from 1.5 months in IMH to 48 months in the retrospective Heidelberg cohort.

This national multicenter biobank and registry provides a deeply phenotyped platform for future investigation of the genetic basis of distinct thoracic aortic disease entities. The observed difference in age distribution provide a rationale for phenotype-specific genomic investigation but should not be interpreted as evidence of differing genetic contributions per se. Continued recruitment and longitudinal follow-up will enable future future genomic and genotype-phenotype analyses.