Long post alert!

Hello there. I'm a 40 year old male who was clinically diagnosed with Classical EDS around 9 years ago I think. I've always worried that i may have vEDS mainly cause my grandmother passed away in her 40's who was said to have EDS however the cause of death was recorded as an heart attack. She was an heavy smoker, had a very stressful job and I don't think her general health was very good.

This Wednesday I had my results back from Sheffield EDS diagnostic service and has my specialist suspected the gene mutation was one of the COL5 genes. So after many years I've finally got the answer I wanted.

My Father who is 62 was also diagnosed at the same time as me. My 12 year old son who also has a clinically diagnosis is going to be tested now just to tie everything up as well as my 58 year old aunt who also has EDS.

I've had 5 echos in total at 5 year intervals. All have been fine apart from mild regurgitation on the triscupid and mitral valve. My aortic root has been normal and the last echo showed the measurement to be bang in the middle of the normal range. I'm very healthy, my blood pressure is good, my weight is good and I exercise 3 times per week with moderate strength training. The reason I strength train is because my dad's mobility is horrendous so I'm wanting to strengthen up the muscles around my joints to take over from the lax ligaments as I'm very hypermobile. I don't want to end up like my dad with his poor mobility.

The thing that has always been in the back of my mind is whether it's safe to exercise and lift weights with regards to my heart? My dad had his first ever echo this year and he is said to have mild aortic root dilation which wasn't seen on a xray previously. I'm not sure of the measurement and we don't know if it's progressed yet or how long he's had it. But, this has frightened me a little and I can't help but wonder if this will happen to me in the future and whether I should cut back on my fitness routine. My dad isn't very fit or healthy. He was a heavy smoker until last year, he has high cholesterol, does no exercise due to his poor mobility and doesn't watch what he eats. He is due to see a cardiologist in Jan 2020.

A Dr Glenda Sobey gave me my results on Wednesday and she was one of the contributors to the 2017 nosology so she knows her stuff. She said I'm ok to lift weights as long as I'm not really straining. I've also asked 2 other cardiologists who have said generally the same thing but I'm still slightly worried. One cardiologist said he would be concerned if my genetic result came back as vEDS and if it didn't then exercise is very beneficial. Both cardiologists and Dr Sobey suggested that I'd not need another echo for another 5 years due to the amount of normal echoes I've had and my aorta has not changed in size over 25 years.

I've done a lot of research on assending aortic dilation in EDS patients and from what I can gather and according to  Wenstrup 2002 study aortic root dilation is more common in cEDS and hEDS patients than the general population but tends be of little significance. A later study in 2011 by Atzinger states that aortic root dilation tends to appear more in childhood and rarely progresses to a point that needs intervention. The 2017 nosology states "Aortic root size and mitral valve prolapse are increased in patients with classical EDS, but they tend to be of little clinical significance. Echocardiography may be warranted, but in symptom-free adults frequency can be reduced [Atzinger et al., 2011]. If this is normal in adulthood no follow up is required [Malfait et al., 2010]" The report also refers to the study in 2014 on genetically confirmed cEDS patients that found heavy resistance training was both feasible and safe.

What are people's thoughts? Am I safe to continue? I really don't want to give my fitness routine up as it helps me immensely both physical and mentally.