Marfans?

[Ouch68]

A cardiologist friend of the family suggested we get DS 14 tested for Marfans. While we wait for a GP appointment, I wondered if anyone has any experience or advice? Needless to say Google has scared me as it does appear that he has some of the symptoms associated with this syndrome. Super grateful for any insight.

I've been tested for it in the past as I also display some of the characteristics. It was a cardiologist who referred me too.

I don't have Marfans

Try not to worry too much in the meantime (although it's easier said than done I know).

The ex has multiple indicators but refused to be tested and therefore will not be monitored. This is a very bad idea, particularly taking in account his particular lifestyle choices, but one I thankfully, do not have to deal with any consequences of.

If he does have Marfan's, the most important thing is to keep the monitoring going throughout his life - the effects can vary wildly, but with monitoring, any risks are minimised. And it is perfectly possible he has what's termed 'Marfanoid habitus' rather than Marfan's.

As he's only 14, though, what I would suggest is putting money aside for clothes, shoes, a superking bed, a large chest freezer and a whole world of food over and above the standard MN 6'1" 'growing teen', as there is a considerable chance either way that you are about to witness a fairly spectacular growth spurt over the next 7 years.

Truly I wasn’t expecting any replies so thank you! @SoHereWeGo trying hard not to worry but it’s not easy as you say.

@NeverDropYourMooncup - thank you. Going to look into Marfanoid habitus as I’ve not come across this as yet. The height thing is a worry as he’s already way taller than average. Much as I want to hide my head in the sand, he needs to be seen so we know what we’re dealing with.

An ex had this. He had it fairly severely, but has a great life and every chance of a long one.

He needs annual check ups, he can't do contact sport or get ultrafit (eg body building or marathon running), and one day he'll need an operation. But he's in a high pressure job, at the top of his field (internationally renowned), and hardly ever unwell.

Best of luck to your son.

@FriedasCarLoad - so good to read your response. It’s really reassuring to know a full and productive life is possible albeit with monitoring and modifications. Thank you for this perspective.

So we finally have an appointment later this month to see a congenital cardiologist. The wait is difficult as I’m now convinced he has Marfans as he has all the “minor” characteristics but we will know more following his cardiologist examination. I just wanted to circle back with this small update.

My son was seeing an endocrinologist, and as part of that, Marfan’s was mooted. This understandably freaked me out somewhat.

The only flags in my son’s case, were his short sightedness, high arched palate and wide arm span.

Thankfully, it was quickly ruled out. I was told about 75% of those with Marfan’s have an affected parent.

I have Marfanoid habitus. The criteria for Marfan syndrome has tightened up, I have many minors (build, hyper mobility, palate, stretch marks) but zero heart issues.

My DNephew 16 has it. He has very long limbs and poor eyesight but fortunately his heart health is good. Will need monitoring but so far so good

Thanks all for the replies. It’s comforting to know we’re not alone in this.
@Schmutter neither myself or DH have any of the characteristics we’ve recently become aware that DS has. That said, we’ve not had the genetic test so can’t say for sure.
@wheresmyshoe DS has everything you’ve mentioned plus a few more of the minors. I wasn’t aware that the criteria for Marfans has tightened up but I guess I’ve a lot to learn. Hopefully having Marfanoid habitus has minimal impact for you in regards to day to day activities.
@ninjafoodienovice thank you and I hope your DN continues to stay well.

@Ouch68 hi OP, a close relative works with the Marfan Trust. I can put you in touch with her if that would help? DM me if you’d like.

@bunnypenny that would be great! I’ve DM’d you, thanks so much.

A good friend of mine has Marfans. He was v lucky as he was diagnosed by accident - he had no idea. He was in hospital visiting someone and coincidentally, a consultant, who specialises in Marfans, saw him in a corridor and asked him if he was coming to see her. He said err no I'm visiting someone and she asked him to make an appointment.

He ignored it for months and then decided he would go. And lucky he did as they scanned him and he had to have heart surgery that month. He is in his 50s. He's fine now and fit as a fiddle but if that hadn't happened, likelihood is he would have been dead within 12 months as he had a weakness in his artery wall and by the time they operated, it was the size of a golf ball.

Best thing is to catch it young and monitor so it's great they are having a look. Good luck!

My son was/is being investigated for Marfans. He has seen two specialists who think that although he has some of the signs, it is more likely than not that he doesn’t have marfans. He hasn’t had the genetic testing (need to follow up on that actually as not sure if they decided he didn’t actually meet criteria). His heart was looked at and was fine though which was the most important thing.

I’m really pleased for you and your son @Verite1 as it’s the heart thing that’s of concern. May I ask what specialists your son saw?

@Fibonacci13 -goodness that’s quite the tale! So pleased that it worked out for your friend and he’s very, very lucky indeed.
Thanks for the good luck 🤞

If someone has suggested Marfan syndrome, ask your GP to refer him to genetics. They can assess for Marfan and arrange genetic testing if necessary.

Thank you @desqel Our GP didn’t suggest genetic testing or actually say very much at all. He conducted a few routine tests and agreed to my request for a cardiology referral which we have coming up. I can ask for a referral for genetic testing.

@Ouch68 - he saw a paediatric cardiologist with a special interest in Marfans. He had an ecg and an echocardiogram. His aortic valve was normal (the big risk factor). I was losing sleep from worrying until we saw the cardiologist but she was very reassuring. We also saw a paediatric orthaepedic surgeon who didn’t think he had marfans. We had been referred to geneticist but not sure if that has now been stopped as each review seem to think less and less likely.

What signs does your son have? The main ones with my son are pectus, height and hyper mobility. Then there were some other minor ones which could also be signs but are also very common.

@Verite1 thank you and I’m sure it was a massive relief when your DS got the all clear from cardiology. I’m also having sleepless nights while waiting for our appointment…

DS is really tall for his age and slim. He has the “arachnoid” looking hands, hyper mobility and flat feet. His shortsightedness, high arched palate and crowded teeth could also be signs but as you say, are also very common.

@Ouch68 a family member of mine has Marfans. Have you got any questions? I've been gene tested as a result, and don't carry the gene.

A friend has a husband with Marfans , none of their now adult children seem to have any of the indicators and her husband just has aortic scans regularly .

@Floralnomad - thank you, this is reassuring.
@Covidwoes - what was the journey to your family member’s diagnosis? Thanks.

@Ouch68, he has always been tall (though not 'abnormally so' at 6'4) and skinny. Got glasses age 5, and has very poor eyesight (think -10 in both eyes, though thankfully this has stabilised in adulthood). No teeth issues thankfully. In his early 20s the skin on his fingers went puffy, and he noticed he was hypermobile. Went to the GP, and got lucky he saw someone who suspected Marfans. It all went from there. He takes Irbosartan to help prevent aortic widening. A slightly floppy mitral valve (I think) was noticed during a cardiac echo, but they aren't worried about this. He has annual echos to check his aorta. Has one DC, who isn't showing signs of Marfan so far.

Thanks for this really helpful update and how fortunate that your family member was seen by a GP who had awareness of Marfans. It’s a relatively rare condition so most GPs wouldn’t necessarily come across many patients with suspected Marfans or Marfoid symptoms. Sounds like he is doing well which is wonderful.