Table 4.
Presentation and management of aortic pathology in 17 individuals with vascular Ehlers-Danlos syndrome.
| Age/Sex | COL3A1 variant* | Location /type | Management Known Outcomes vEDS diagnosis | ||
|---|---|---|---|---|---|
| Thoracic Aorta (N=10) | |||||
| 33M | c.601G>C, p.Gly201Arg | Thoracic aneurysm | Medical | Yes | Died at age 51 due to stroke |
| 44F | c.970G>A, p.GlyS24Ser | ATA aneurysm | Medical | Yes | Alive at age 48 |
| 37F | c. 764G>A,p.Gly255 Glu | Ruptured type A aortic dissection | Medical | Yes | Cause of death |
| 79M | c.SS20G>A, p.Gly1107Glu | Arch PAU | Medical | Yes | - |
| 40F | c.2222G>A, p.Gly574Asp | DTAA | Medical | Yes | Diameter 4.2 cm. Alive at age 41 |
| 53M | c.S966delG, p.Lys1S2SArgfs*64 (null) | TBAD/rupture | Medical | Yes | Cause of death, Ruptured due to aortitis |
| 40M | c.926G>A, p.Gly142Glu | TBAD, mild ATA dilation | Medical | No | Alive at age 49 |
| 12M | c.547G>C, p.Gly18SArg | DTAA rupture | TEVAR | No | Discharged home after 2 days. Died at age 27 from multi-organ failure |
| 27F | c.1024G>A, p.GlyS42Arg | DTAA rupture | TEVAR | No | Cause of death |
| 19M | c.12S1G>C, p.Gly244Arg | TBAD | Open Repair | Yes | Extent II TAAA repair at age 21. Discharged home after 10 days. Alive at age 29 |
| Abdominal Aorta (N=7) | |||||
| 33F | c.996+2G>A, p.Gly318_Pro332del (splice site) | Infrarenal abdominal aortic dissection | Medical | No | Aortic diameter 1.9 cm. Alive at age 34 |
| 30F | c.1330G>A, p.Gly444Arg | Abdominal aortic dissection | Medical | Yes | - |
| 45M | Pathogenic | AAA/ Dissection | EVAR | No | Alive at age 46 |
| 27M | c.2113G>A, p.Gly705Arg | AAA/Dissection | Open Repair | No | Discharged home after 8 days. alive at age 31 |
| 33M | c.2356G>A, p.Gly786Arg | Ruptured AAA | Open Repair | No | Takeback for a ruptured gallbladder. Alive at age 51 |
| 43F | Pathogenic | Ruptured AAA | Open Repair | No | Discharged to rehab after 24 days, wound complicated by infection. Alive at age 48 |
| 48M | c.3847C>T, p.Gln1283Ter | Ruptured AAA | Open Repair | Yes | Take back right limb ischemia. Discharged home after 7 days. Alive at age 56 |
AAA: Abdominal Aortic Aneurysm. ATA: Ascending Thoracic Aorta. DTAA: Descending Thoracic Aortic Aneurysm. EVAR: Endovascular Aneurysm Repair. PAU: Penetrating aortic ulcer. TBAD: type B aortic dissection. TEVAR: Thoracic Endovascular Aneurysm Repair.
*
All are missense mutations unless specifically noted.