Uncertain prognosis for TAAD with genetic variant of unknown significance

[gsl1956]

I am a 60-year-old man, 6'2". In April 2016, TTE revealed 4.3cm dilation of ascending aorta. February of this year, MRA showed aneurysm increased to 4.5cm in 10 months. Family history of aortic aneurysm (mother-abdominal/deceased, grandfather-thoracic rupture with sudden death). Referred in May for FTAAD genetic testing. Test results identified a rare COL3A1 mutation as a "variation of unknown significance." The uncertainty of the VUS finding troubles me, given COL3A1 association with vascular Ehlers-Danlos Syndrome and that I share a few traits seen in EDS - historically easy bruising and free bleeding (e.g nosebleeds) and slow wound healing.

Given the VUS and familial history, how does an aortic surgeon take these factors into consideration for medical management/surveillance and elective surgical repair? Do surgeons intervene earlier due to the uncertainty around the variant associated with connective tissues disorder and early aortic rupture/dissection?

 

[DachsieMom]

Yes, they do. I believe they may generally operate under 5 cm. My sister and I both learned we have genes suspected of causing aortic aneurysm. She had surgery at 4.8 and the surgeon said her aorta was the worst he had ever seen that had not ruptured. I have surgery at under 4 (although I think it was 4.3 or 4.5 when they examined it after surgery)but I am Only 4'10". The fact that we had the genes definitely played a role in early surgery. I was 42, she was 45.