This protocol addresses unruptured thoracic aortic aneurysm occurring in the setting of vascular Ehlers-Danlos syndrome (vEDS), a rare heritable connective tissue disorder that substantially alters surgical risk and decision-making.
Vascular Ehlers-Danlos syndrome affects approximately 1 in 50 000 to 100 000 individuals and is caused by pathogenic variants in COL3A1. It predisposes to spontaneous aortic and arterial dissections, aneurysms, and rupture — often at young ages — making the management of even unruptured aneurysms in this population a high-stakes decision. There are currently no established diameter thresholds to guide prophylactic intervention for aortic and arterial branch vessel aneurysms in vEDS.
When intervention is indicated, open surgical repair coordinated by a Multidisciplinary Aortic Team with shared decision-making forms the basis of management — the full criteria, technique considerations, and alternative interventional options are set out in the complete protocol.
DOI: 10.1161/CIR.0000000000001106
Vascular Ehlers-Danlos syndrome, affecting 1 in 50 000 to 100 000 individuals, is attributable to pathogenic variants in COL3A1 and leads to spontaneous aortic and arterial dissections, aneurysms, and rupture at young ages.
Rapid arterial aneurysm growth or the occurrence of dissection are indications for treatment, but no data are available to guide diameter thresholds for prophylactic surgical intervention for aortic and arterial branch vessel aneurysms in vascular Ehlers-Danlos syndrome.
Open surgery requires meticulous technique to lessen vascular and tissue trauma, and interventional techniques may involve arterial embolization and endovascular therapy, depending on individual circumstances.
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