Background Ehlers-Danlos syndrome (EDS) is a disorder in the metabolism
of fibrillary collagen. Its vascular type (vEDS) frequently develops
arterial rupture and aortic dissection. Case presentation The patient
was a 54-year-old gentleman who suffered from cardiac tamponade,
malperfusion of the left carotid artery and the right lower extremity
due to acute type A aortic dissection. Rupture of the aortic root and a
huge entry located from the transverse arch to the proximal descending
aorta were found. There were no significant deformities at aortic valve,
so we tried extended repairs of valve sparing root replacement (VSRR)
and total arch replacement (TAR) with frozen elephant trunk (FET) and
were successfully performed. He was finally diagnosed as vascular
Ehlers-Danlos syndrome (vEDS) by genetic examination. Conclusion
Emergency extensive repairs of VSRR and TAR with FET for critical AAAD
with rupture and malperfusion was successfully performed for a vEDS
patient.
Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers–Danlos syndrome