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Marfans

8 replies

AfternoonTeaInLondon · 12/07/2021 19:28

Apologies if this is in the wrong place to post but looking for any one with experience with Marfan's - I'm a 39 year old female currently being investigated for this and feeling very anxious. I have young children and just read about the 50/50
Chance of it being passed down. Currently waiting for a heart MRI scan.
If you have it can you please let me know your symptoms

OP posts:
TheVanguardSix · 12/07/2021 19:39

It is in my family, OP. My closest relation is a cousin with it. And at the moment, I am being investigated for it following an aortic dissection.
I've had Lupus-like symptoms for years and heart arrhythmia for what feels like my whole life. I have long QTs. Anyway, it was the aortic dissection that brought marfan's to the fore. I still don't know if I have marfan's and my investigations, which were shelved during covid lockdowns, are only happening now. So, I am sorry that I don't have much advice. But I do have a handhold.

I am tall but not crazy tall... 5'10". But I am rather gangly and awkward looking... a bit skeletal with very long limbs.
I just had a cardiac MRI today... heart, brain, torso to groin... basically looking at the arteries throughout. It was a 2 hour scan for me but if they're just looking at your heart, it will be much shorter. Have you had an MRI before? I've had several so again, here for a handhold if you need one.

What has led to the investigations, OP?

AfternoonTeaInLondon · 12/07/2021 19:48

Thanks for replying @TheVanguardSix
I had a routine chest X-ray and ecg a couple of months ago, after having covid and chest pains. Chest pain all resolved now but cardiologist says ecg is abnormal and indicating a "structural abnormality" so I now have to have a heart mri, I'm so nervous about having this, mainly because of the dye they inject, the thought of it makes me feel sick! I have scoliosis, pectus deformity, low BMI, and although I'm about 5,8 I look gangly and thin.

Have you had an echo scan and is the only way to diagnose an MRI scan do you know? I have young children and they will have to go through testing also if I have it. I'm just scared of the whole thing.

Thank you for the handhold, how old
Are you if you don't mind me asking, everything I read seems to be younger patients being diagnosed.

Were your scans today to look just for marfans? Hope you receive your results soon and all is ok Thanks

OP posts:
fantasticchips · 12/07/2021 20:03

Hope you are okay OP. I know a family with Marfans. No one has the classic marfans "look" but they are tall and they get regular echos to monitor for aorta dissection. No impact on day to day activities or quality of life.
As far as I'm aware their kids were diagnosed via blood tests to see if they had the gene. No invasive testing.

TheVanguardSix · 12/07/2021 20:20

Oh you're so, so, so welcome! And I can completely understand your anxiety! I've had contrast dye 3 times (today included) and it's really no problem. I promise, you really won't notice it. You feel a tiny breeze of a cold rush going into the vein of your arm as they put it in, but after that, nothing. I am always afraid though... every single time. Grin And I can't stand MRIs! Just close your eyes before they roll you into the actual tube. Tell them you'll want to close your eyes and make sure they don't roll you in before your eyes are shut. This really, really, really helps to avoid claustrophobia in the machine. Just keep your eyes closed and daydream about all sorts of things. You can listen to music as well. MRIs are a little bit crazy and loud, but they are amazing! It's the gold-standard diagnostic equipment for sure. You'll definitely get answers.

I do wonder if the covid may have had some sort of impact on your heart. It is a vascular disease, Covid, and there is a correlation between Covid and heart implications. But try not to fear. I live with mild heart failure and it doesn't significantly reduce my life expectancy. Not that you have heart failure at all. But you can still live a long, good quality, happy, healthy life with heart 'stuff'. I still ride a bike everywhere and walk the dog daily. I have to be careful not to get my heart rate going too fast, but it doesn't stop me from enjoying things. Though, I can't ride rollercoasters. Amazing but true. Not that I'm riding many these days other than emotional ones. Grin

I'm 49 now and I was diagnosed in my early 30s with long QTs (not sure if I have long QT syndrome itself but I was loosely monitored by cardiology for about 3 years then discharged).
I have an echo and ECG coming up as well, so hopefully, I'll get some long-awaited answers. When I was younger, they did no scans. I had an ECG and was diagnosed with long QTs back then. But I never had an MRI or Echo back then and I probably should have asked for one or the other. I've lived with bigeminy for which I've never gotten answers (I never pushed for any. It's really my own fault). It was the tear in my artery that's now got me so heavily plugged into cardiology again and it's also this very tear (called a SCAD) that has the consultants looking for Marfan's at this stage.

My cousin with Marfan's was diagnosed as a younger adult. She's in her 50s now and continues to do really, really well. She's a biochemist in Australia, living a healthy, happy life. Her Marfan's hasn't impacted her too much and hers isn't a mild case, so in a funny way, that is reassuring. So, take heart (literally!) in the fact that people with Marfan's, and other heart conditions, can and do live long, and very productive, happy lives.

I think we are incredibly fortunate to have some absolutely amazing heart centres here in the UK. Whatever is going on with your heart, you will get to the bottom of it and you will be well managed and looked after. Flowers

TheVanguardSix · 12/07/2021 20:23

I should clarify that my first two heart/cardiac MRIs were ones that were taken after my heart attack. They weren't really looking at Marfan's then. They were looking for FMD, which also causes dissections, which I don't have. This third MRI (today), was meant to happen a year ago but didn't because of Covid. This is the one where they want to explore the possibility of Marfan's.

TheVanguardSix · 12/07/2021 20:34

I should mention that I too have scoliosis, OP, but not too badly at all. It was worse when I was a child/teen. I don't know if it's gotten 'better' or if I just hide it better. Grin
My cousin had a brace in childhood and teens, but not as an adult.
They say it doesn't improve but in our cases, it really seemed to!

AfternoonTeaInLondon · 14/07/2021 16:34

@TheVanguardSix
Thank you so much for your post, it has been so helpful and reassuring. I'll update after I have had my mri, and I hope that your results are all okay

OP posts:
imnotalpharius · 14/07/2021 16:44

Hi, I don't have Marfan's but there is someone on the hypermobility syndromes awareness page on Facebook that does and posts regularly about symptoms, challenges etc, might be of help.

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