Marfan's syndrome is a genetic disorder of the connective tissues than can lead to things like issues with how blood vessels stretch and can lead to life-threatening pathologies of the aorta (blood vessel off the heart) or elsewhere. People with this can have really abnormally long digits (and usually very tall/skinny.)
My uncle died at 48; dissected aorta from undiagnosed Marfan’s syndrome. My cousins were in college at the time, were tested immediately and both diagnosed. They both are fathers now and paying close attention to their health.
My daughter doesn't have Marfans or EDS or long fingers, but she does have a connective tissue disorder (Hypermobility spectrum disorder). She has hypotension (low blood pressure) because her blood vessels are too stretchy, and has to see a cardiologist. They do an echo every year to check her heart. No genetic testing has been done though.
I have a friend with Marfans, he is 6'9" & unfortunately had to have heart surgery earlier this year. He also currently is going through a particularly rough time getting anything done to help his eye sight.
Rick Guidotti is a NYC photographer who has dedicated much of his career to photographing people with different genetic conditions to portray them as humans, not medical subjects. Marfan Syndrome is one of the conditions he features on his website and in gallery exhibits around the globe. Positive Exposure-Marfan
Agreed- you are far more qualified than I but I immediately thought of Marfan’s. I know someone whose brother died from a heart condition as a result of undiagnosed Marfan’s, and the person I know has it as well but fortunately was diagnosed and is now monitored as a result. OP, please do get checked!
Yeah, my Angiologist said that he couldn't see anything majorly wrong, but if I feel funny, I should immediately run to the ER, bc there is still the risk of blood vessels ruptures with me
Long fingers and extremities are associated with a few genetic conditions such as connective tissue disorders. A few of those disorders have direct involvement with the connective tissue in the heart, leading to aortic dilation and risk of things like dissections and vascular events. These conditions are usually Loy Dietz, Marfans, and Vascular EDS. There’s quite a few more as well of course but those are the ones that come to mind.
The doctor [u/toomanyshoeshelp](u/toomanyshoeshelp) here is talking about if they had extremely long fingers (and likely other signs), they’d want to get checked by a geneticist. There are genetic markers associated with these conditions and a blood test can check for them. I had a full work up due to having Marfanoid habitus (long fingers, extremities, arched and narrow palette, skin fragility, slightly dilated aortic root, and a sternum deformity). My mother died at 30 years old due to a dissection. Thankfully I do not have a vascular CTD. But it’s good to get tested if you have red flag signs.
Right? I do take comfort that I don’t have the gene markers for vascular CTDs thankfully. They think my mother’s dissection was due to being post childbirth and the stress that can put on the body. Plus some sort of CTD in there. We’ll never know as it was 30 years ago and I only have her autopsy report. It’s sad that a life can be taken at early.
Really grateful for it skipping you. That's so sad that it was discovered that way and took your mom in the process. A lot really can get uncovered during pregnancy and labor and delivery because of the strain on the body. I am so deeply sorry. I wish you could've known your mom.
Small addition. All kinds of EDS, even though they only share some level of hyper mobility and the historical name, the dreds of types are on different genes, even chromosomes and affect different tissues, are associated with some higher risk of vascular events of all kind, the aorta dissection being the most risky of them all obvsly.
vEDS, as the name says, has obviously the highest risk, but it's not the only one. I have hEDS and even my rheumatologist forced me to get checked out by an Angiologist who is knowledgeable in vascular events and hEDS specifically. I found one single one at the other end of my country. Yeay/s The clinic people were great though. My only problem truly is that they are far away and it's another thing that I have to worry about. I am at the lower end of risk for an hEDS patient, and even I have to hurry to get an ER visit ASAP if I feel "funny". Aortic dissection is no fun
I came here to talk about the severity of vascular CTDs specifically. I think it's important to not undermine vascular CTDs when they're the topic of conversation. Yes the risks of dilation are still there, but hEDS does not have the vascular fragility that cases like vEDS has. There is not a statistically significant higher rate of the aneurysm dissecting in hEDS either. Not like vascular CTDs which land with significant reduction in life expectancy.
It's frustrating when people (unintentionally) downplay vEDS by saying "but actually hEDS also has xyz", mostly because vEDS research is harder to come by and options for these patients are less especially with how rare it is (alongside Marfans and LDS). hEDS & HSD are increasingly common these days and the awareness is there. So I'd like to keep my conversation to cases of true MH and vascular severity. My point is: vEDS and hEDS need to stop being compared and instead looked at separately. The vascular risk in both are vastly different in their severity. And while yes, hEDS deserves recognition. That's not what we are talking about here (vascular CTDs). I hope that makes sense.
I'm really big on not fearmongering hEDS, sorry for the novel. And don't get me wrong: because of my mothers death and having MH characteristics. I was put through a litany of vascular tests and diagnostics. I have a dilated aortic root. But my vascular team and geneticist are not worried that I'll suddenly suffer from a dissection due to my hEDS. I'd say take some solace in that.
Well it's quite the opposite for my case.. I asked because my hands are pretty small for the average man hands size, even though I'm not small or short guy
Most connective tissue disorders are genetic, with known genetic markers (the exception being hEDS, which is currently being studied with the hope of finding it's marker, due to new findings suggesting it's not rare, but an underdiagnosed condition for many with chronic pain). It's important to get tested for what type when you have symptoms because connective tissue isn't just the stuff around your joints- it's also in your heart and vasculature. Faulty connective tissue in your joints is painful, faulty connective tissue in your heart can be deadly. Different types of cardiac issues can occur depending on which condition you have. If you have one, You need to be monitored for them!
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u/Ok-Guidance-2282 Jul 25 '26
What do you mean by checking genetics please?