Background <p>Chronic post-traumatic thoracic aortic aneurysms may remain undiagnosed for years. In patients with genetically mediated aortopathies, open surgery is traditionally favored, whereas endovascular approaches remain controversial due to concerns regarding durability and long-term complications. We report a staged hybrid repair of a huge symptomatic post-traumatic thoracic aortic aneurysm in a patient with a subsequently identified variant in the TGF<InlineEquation ID="IEq1"><EquationSource Format="TEX">\(\:\beta\:\)</EquationSource></InlineEquation>3 gene. The focus of this case lies in the interdisciplinary staged strategy combining open arch repair and thoracic endovascular aortic repair, guided by interdisciplinary decision making spinal cord protection strategies.</p> Case presentation <p>A 41-year-old female was diagnosed with a 125&#xa0;mm descending thoracic aortic post traumatic aneurysm with compression of adjacent structures. Additional visceral and cerebral aneurysms raised suspicion of a systemic connective tissue disorder. A staged hybrid approach was selected. Stage 1: frozen elephant trunk with arch reconstruction. Stage 2 comprised thoracic endovascular aortic repair following selective transposition of a directly originating left vertebral artery, guided by motor and somatosensory evoked potential monitoring and intraoperative balloon occlusion testing. Subsequent whole-genome sequencing identified a heterozygous variant in transforming growth factor beta 3.</p> Conclusions <p>This case highlights the importance of early multidisciplinary planning and individualized staged hybrid strategies in complex thoracic aortic aneurysms, particularly when connective tissue disease is suspected but not yet genetically confirmed. Integration of open and endovascular techniques, combined with tailored spinal cord protection measures, can enable effective and durable repair while minimizing neurological risk in selected high-risk patients.</p>

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Staged hybrid repair of a symptomatic post-traumatic aortic aneurysmatic lesion in a patient with late diagnosed connective tissue disorder

  • Georg Jung,
  • Jeannine Bucheli,
  • Renate Schönenberger-Berzins,
  • Marianne Rohrbach,
  • Qendresa Parduzi,
  • David Schibilsky,
  • Peter Matt,
  • Maani Hakimi

摘要

Background

Chronic post-traumatic thoracic aortic aneurysms may remain undiagnosed for years. In patients with genetically mediated aortopathies, open surgery is traditionally favored, whereas endovascular approaches remain controversial due to concerns regarding durability and long-term complications. We report a staged hybrid repair of a huge symptomatic post-traumatic thoracic aortic aneurysm in a patient with a subsequently identified variant in the TGF\(\:\beta\:\)3 gene. The focus of this case lies in the interdisciplinary staged strategy combining open arch repair and thoracic endovascular aortic repair, guided by interdisciplinary decision making spinal cord protection strategies.

Case presentation

A 41-year-old female was diagnosed with a 125 mm descending thoracic aortic post traumatic aneurysm with compression of adjacent structures. Additional visceral and cerebral aneurysms raised suspicion of a systemic connective tissue disorder. A staged hybrid approach was selected. Stage 1: frozen elephant trunk with arch reconstruction. Stage 2 comprised thoracic endovascular aortic repair following selective transposition of a directly originating left vertebral artery, guided by motor and somatosensory evoked potential monitoring and intraoperative balloon occlusion testing. Subsequent whole-genome sequencing identified a heterozygous variant in transforming growth factor beta 3.

Conclusions

This case highlights the importance of early multidisciplinary planning and individualized staged hybrid strategies in complex thoracic aortic aneurysms, particularly when connective tissue disease is suspected but not yet genetically confirmed. Integration of open and endovascular techniques, combined with tailored spinal cord protection measures, can enable effective and durable repair while minimizing neurological risk in selected high-risk patients.