A national multicenter biobank and registry across eight German centres has enrolled 274 patients with distinct thoracic aortic disease entities and provides a deeply phenotyped platform for future genomic and genotype-phenotype studies, with age distribution the most prominent descriptive difference between entities.
Key Findings
Methods
A prospective multicenter registry with integrated biobanking for thoracic aortic disease was established in May 2024 across eight German vascular and cardiovascular centres.
Eligible patients had Stanford type B aortic dissection (STBAD), thoracic aortic aneurysm (TAA), intramural hematoma (IMH), or penetrating aortic ulcer (PAU).
Clinical characteristics, treatment, imaging parameters, and longitudinal outcomes are collected in a centralized pseudonymized database.
EDTA blood samples are stored at -80 °C for future genomic analyses.
No genomic analyses were performed for the present report.
Results
The registry has enrolled 274 patients in total, combining a retrospective hypothesis-generating cohort with a prospective multicenter cohort.
118 patients with isolated STBAD come from the established retrospective Heidelberg hypothesis-generating cohort.
156 patients are in the prospective multicenter cohort: 84 STBAD, 40 TAA, 13 IMH, and 19 PAU.
The prospective cohort is intended as an independent population for validation and extension of genetic findings.
Recruitment status is reported as of May 2026.
Results
Age distribution was the most prominent descriptive difference between disease entities, with STBAD patients much more often younger than 60 years.
Among STBAD patients, 116/202 (57.4%) were younger than 60 years.
Among other entities, 6/40 (15.0%) with TAA, 2/13 (15.4%) with IMH, and 2/19 (10.5%) with PAU were younger than 60.
The authors state this provides a rationale for phenotype-specific genomic investigation but should not be interpreted as evidence of differing genetic contributions per se.
Results
Documented family history of thoracic aortic disease and connective tissue features were uncommon in the cohort.
A positive family history of thoracic aortic disease was reported in 14 patients (5.1%).
Hypermobility or other connective tissue features were documented in 12 patients (4.4%).
Two patients (0.7%) had a documented connective tissue disorder.
Results
Most enrolled patients received surgical or endovascular treatment.
Overall, 217 patients (79.2%) underwent surgical or endovascular treatment.
Results
Imaging follow-up duration varied widely across cohorts and entities.
Median imaging follow-up ranged from 1.5 months in IMH to 48 months in the retrospective Heidelberg cohort.
Conclusions
The registry is positioned as a deeply phenotyped platform for future investigation of the genetic basis of distinct thoracic aortic disease entities.
The retrospective Heidelberg cohort of 118 isolated STBAD patients serves for hypothesis generation, and the prospective cohort for validation.
Continued recruitment and longitudinal follow-up will enable future genomic and genotype-phenotype analyses.
What This Means
This paper describes the setup of a German national biobank and patient registry for diseases of the chest part of the aorta, the body's main artery. These include dissections (tears in the artery wall), aneurysms (bulges), intramural hematoma (bleeding within the wall), and penetrating ulcers. Eight German centres collect detailed clinical, treatment, and imaging information, along with stored blood samples that can later be used for genetic research. No genetic analyses have been done yet.
As of May 2026, 274 patients were included, 118 from an earlier Heidelberg group with type B dissection and 156 from the newer multicenter cohort. The clearest difference between conditions was age: about 57% of people with type B dissection were younger than 60, compared with roughly 10–15% of those with the other conditions. Few patients had a known family history (5.1%) or a recognized connective tissue disorder (0.7%). About 79% received surgical or endovascular treatment.
This research suggests the registry could help scientists study the genetic basis of these different aortic conditions in the future. The authors caution that the age differences do not by themselves show that genetics differs between the conditions. The value of the platform will depend on continued recruitment and long-term follow-up.
Erhart P, Körfer D, Simon F, Gombert A, Oikonomou K, von Klitzing E, et al.. (2026). German multicenter biobank and registry for phenotype-specific genomic research in thoracic aortic disease.. Langenbeck's archives of surgery. https://doi.org/10.1007/s00423-026-04356-0