Marfan's syndrome? Wondering about 12 yr old.

[Barrenfieldoffucks]

I'm beginning to wonder if my 12 year old son has the above.

He has the abnormally long fingers (can do both of the 'tests'), is very slender, and has "Pectus Excavatum", where one side of his chest goes in.

He is getting taller, but his dad is 6'4" so height was fairly inevitable.

Dh's dad was 6'7", and died 20 years ago of an aortic aneurysm...which all seems to tie in.

Does anyone have any experience of this? I'm nervous of taking him down an investigation route and potentially making him self-conscious about himself, but if it can cause heart issues I should, shouldn't I?

I raised it with DH (minus the bit about his dad as I hadn't made the connection at that point) and he scoffed a bit tbh.

From what you have said, it definitely sounds worth investigating.

I would just because of the potential cardiac issues if for no other reason.

It's better to know.

It sounds possible. From what I know about it from a friend, I would get it checked out.

from what I know about Marfan’s it is common for it to have sat in families for generations undetected. A friend’s husband has it and found out after a detached retina, and there were lots of random deaths in his family in previous generations. It’s worth discussing with a GP

Yes, it sounds like a possibility
My DS1 friend has this
She was checked when her DF died from heart issues
She is tall with long slender fingers and also has Chiari malformation which is connected to Marfans

I've done an 'e-consult' with the doctors, so will see what they come back with.

I wouldn't necessarily want to talk to him about it at this stage/his age, so will work out how to play it.

My ds had lots of signs of marfans, but was tested and confirmed not to have it.

Get him tested, he either has it or not. Getting tested won't change that.

How do they test for it?

My friend's child went through lots of different scans and tests.

Hi, there’s a genetic test that can be done (blood test that’s all). My son presents with several characteristics so I took him to the GP when he was about 15/16 who referred him to rheumatology. He had ECG’s and a chest x-ray and had the Marfans test which came back negative; we were told he might have one of the Ehlers Danlos syndrome though (of which there are many and can’t be genetically tested I believe) but then the pandemic hit and nothing further was pursued - basically told he might want further tests when he’s older and discharged. He’s 21 now and not interested in taking it further, and as he’s an adult there’s bugger all I can do about persuading him otherwise!
Anyway it’s definitely worth pursuing, it might not be Marfans, it might be something else, it might be nothing.
When I first took him to the GP I wrote the doctor a letter saying why I thought it might be Marfans and passed it quietly to the receptionist- I didn’t want to frighten my son either- so that might be an idea?

Ask your GP to refer him to genetics. Make sure they mention the family history of aortic dissection.

Yes, yes , yes. Investigate. Both my children are under the QE rare conditions unit in Birmingham. They are under them due to my husbands aortic dissection in 2018. They only go for yearly checks and as yet have not shown up as Marfans , Ehlers Danhlos syndrome or Loey Dietz syndrome, but the consultant says genetic markers and testing are advancing all the time. They don't seem unduly stressed by it all. Wishing you and your family well.

Hi, thought I'd join this thread as recentish. I've spent a day on a Marfan rabbit hole. My son is 12 with some hypermobility in his fingers, long fingers and is tall so we were referred a few years ago by a paediatrician we saw for something else that needed no treatment. Being honest I'd be shocked if he has Marfan as we're quite far along the process. The first port of call was cardiology because 9/10 people with Marfan have cardiac symptoms although maybe some come with time. My son's heart is absolutely fine. They did the ghent tests there, he didn't meet the threshold but they sent to genetics anyway as expert heart people not genetics. We recently saw genetics and she went through a full examination of my son, took 3 generations of medical history but he didn't meet any connective tissue criteria but she doesn't want to decide so is double checking with an opthalmologist at the eye hospital. I'd be amazed if he had eye issues as has perfect sight and recent eye exam. We have no medical history and are tall and long fingered families, the long fingered thing gets me because I can't figure out what is really arachnodactyly and what is just long fingers. My son could do the wrist test but not the thumb one although she was sort of pushing his thumb. So really my son's only signs are height, he's tall and the long fingers and toes. I don't know if we'll have a blood test offered but did some research and because it's so rare there is a high risk for false positive if you don't meet other criteria. I'm glad they're taking care of him but it's been confusing. I'd say with your family history it's a good idea but Marfan doesn't skip a generation so if you think his grandad had it, it would be really unlikely for him to have it from a genetic mutation rather than inherited. It took over 2 years to be seen but that's post COVID with no real symptoms so you should mention as much as possible. The genetics person also checked palate, skin, every sign going. Good luck with it

I forgot to say too, the heart check was so worth it because you never know and it's real peace of mind. Also I think they really want to find people with Marfan which is why we keep getting appointments despite it being unlikely, they don't want anyone having an aortic emergency. If they find the people they know are out there, it really pushes forward the treatment and diagnostics so they're really keen on offering appointments. My son finds them irritating but has taken them in his stride and it hasn't made him self conscious. Do it now because if you change your mind when he's 16 you'll probably struggle to get a clear answer before he's an adult and he might not follow up

Thank you, that's interesting. My aunt is a senior radiologist who sees lots of people with various things every day, she thinks it looks more like Poland syndrome perhaps, as his chest isn't concave per se just missing a muscle so his chest is flat on one side instead of having a pec.

She also felt it was unlikely as one of my concerns was that his 6'7" granddaughter had an aortic aneurysm, and she pointed out that of 75 percent of Marfan's cases are genetically passed on, the odds of all 4 of the grandfather's sons (so.mybhusband and his brothers) not having it was very slim. They're all tall, 6'2"-6'5, but no other signs.

I've contacted the GP surgery to ask to chat with them again, so will see.

Thanks again for your reply

No problem, sorry I wrote so much but at least it gives an idea. It is unlikely, it's rare but if you wanted it checked out I'm sure they would.

ds1 was tested for Marfans as a teen.
He had almost all of the skeletal, skin, hyper mobile indicators, but they scanned his heart and lungs and checked his eyes and he had none of those signs, so they declared it highly unlikely he had it and they didn’t test his genes.

ds2 is similarly tall and long fingered, but not hyper mobile. He does have asthma which wasn’t behaving in the normal manner at one point and I saw the Dr checking his finger length etc. and asked if they were considering Marfans. They got his asthma under control with a different inhaler and there was no further mention of Marfans.

ds1 said it was all a waste of time and all for nothing, but I felt relieved to get it checked out. The reason I went was a colleague hearing me describe his height, long fingers, hyper mobility etc. said it sounded like his Dad who had died at a young age from an aneurysm not knowing he had Marfans

@Barrenfieldoffucks Poland syndrome usually has finger webbing and a smaller arm/hand on the affected side. Is your son shortsighted as myopia is very common in Marfans and often the lens inside the eye can dislocate, the stretchy skin is seen in both Marfans and Ehlers Danlos. Most of my knowledge about Marfans is to do with the associated eye problems , it is autosomal dominant inheritance so would be inherited from a parent with the condition but some people may only have very subtle signs of the condition

My friend had their son tested but before they were allowed to have the genetic test they had to find as many relatives as possible that had it - even put a plea on facebook!

Ooh can I have some advice please. Ds isn’t particularly tall but is skinny with even skinner and very long knuckle fingers. When younger he was a bit overweight but the fingers still skinny and he can bend them in weird ways. He’s shortsighted (but me/his dad also are).

he’s complaining of a tight chest sometimes. Tried to get a gp appointment but they refuse saying he has to go down the 111 route.

how do we start to get him checked out? Feel locked out….

just wondering if there was an update? As we’ve recently had a follow up eye appt and my 6 year old son has been diagnosed with bilateral ectopic lens and the ophthalmologist said he had multiple signs of Matfans (the bilateral epotic lens is Apprantely also a sign) he did a urgent refferal to peadatrics but they have down graded to general refferal and waiting time for appt is upto six months which seems long! Just wondering if anyone has been through this and can offer any advise?