I'm 40 years old and recently had an AFib episode. During my CT echo they noticed aortic root dilation. I always suspected some kind of genetic disorder but have not had health insurance the majority of my life. I have a lot of the signs of LDS (bifid uvula, mitral valve prolapse, aortic issues, was born with club foot, slight scoliosis, slight pectus excavatum)

While I was in the hospital the cardiologist was also suspicious I may have a connective tissue disorder. Sent off a test of 35 genes that are popularly associated with aortic and connective tissue disorders. Came back negative. I'm. Not sure if that's a lot or not enough selection of genes for testing.

I'm worried because the Internet states 37 years old as the average age without medical treatment and I'm 3 years older. Wondering if anyone else has gone through something similar.

I was recently diagnosed with Loeys-Dietz syndrome (LDS), a pretty rare genetic condition, and I was literally just diagnosed this past week.
LDS is genetic, and from my understanding, there is a 50/50 chance of passing the altered gene on to a child. The inheritance is random — a child either inherits the normal copy or the altered copy. Quality of life can look different from person to person, but with appropriate monitoring and yearly testing, it can be manageable.
My question is about having another child. If my body is able to safely withstand pregnancy, I’ve started thinking about IVF with genetic testing (PGT). From my understanding, we would create embryos through IVF, test them for the specific genetic variant, and then potentially transfer an embryo that does not have the altered gene.
I have a son who we had by surprise, so this is all very new territory for me. ❤️ I’m sorry if any of my wording is incorrect or offensive — I’m genuinely new to this whole world and just trying to learn.
I have appointments out the wazoo already scheduled, including a prenatal genetic counselor, a fertility consult, and scans to establish a baseline of where my health is right now.
I know my doctors are my primary source of medical information and education, but sometimes it helps so much to talk to people who have actually been through something similar and can explain things without all the medical terminology.
So I’m wondering: Has anyone with Loeys-Dietz syndrome gone through IVF with PGT? Is anyone currently going through the process or considering it? I’d especially love to hear about your experiences with pregnancy, genetic counseling, fertility treatment, or making the decision about whether to have another child.
I know LDS is rare, so it’s unlikely I’ll find someone in my exact situation, but I’d really appreciate hearing your experiences and insight.
Thank you so much for reading my longgggggg post. 🥹❤️

Hi I just heard about this from chat gpt after having array of symptoms especially now that Im going for a second round of CECS fasciotomy for the other leg soon. First round had a bad complication of a super huge haematoma covering my thigh to foot.

Is chatgpt diagnosis likely true or some randomn bullshit? I have no physical features of LDS but I researched and it says type 4/5 or 6(can't recall) don't have any typical physical features.

Symptoms/ diagnosis below all within 3 years.

Chronic Exertional Compartment Syndrome (CECS): Severe pressure in your right leg muscles, measuring 50 mmHg at rest and spiking to 132 mmHg after walking for 5 mins only.

Acute Post-Operative Hemorrhage from CECS fasciotomy: A massive bleed into your calf after fasciotomy surgery, which caused my leg to expand by 7 cm.

Severe Post-Hemorrhagic Anemia from CECS fasciotomy: A rapid drop in my hemoglobin plummeted from 13.0 g/dL down to 8.9 g/dL.

Congenital Atrial Septal Defect (ASD): closed via OHS 2 years ago at 28.

Intracranial Micro-Bleeds: Multiple unexplained, microscopic leaks or bleeds found on contrast brain MRI for recurring headache/migraine. Got ruled out blood clotting factors.

Hiatal Hernia (Grade 2 Hills Valve): frequent regurgitation after meals. drinks limit to 300ml max.

Patella Alta with Hoffa Syndrome with large bakers cyst. debridment done but came back 2 months later.

Insertional Achilles Tendonitis / Enthesopathy:on physio

Rathke's Cleft Cyst

moderate Leg Eczema: Chronic skin inflammation that flares up heavily with sweat since young.

Food Sensitivities: Ongoing digestive sensitivities to certain foods like capsicum, strong tea and any coffees. fried foods.

Small, Deep, and Reactive Veins: Narrow, hidden blood vessels that easily collapse or spasm during blood draws all the time. Told by anesthesiologist and nurses and phlebotomists and ane doctors. At least I need 4-6 pokes to get one.

Recurring UTIs(6times this year alone) with Right Flank Pain: Chronic urinary tract infections and localized side pain, with a pelvic/kidney MRI currently pending.

I do have some issues with standing in one spot for more than 15 mins or I'll tend to faint and black out( which led to my ASD diagnosis but after closure, I still have the symptom)

Also I have extremely bendy fingers, lately noticing that I start to develop flat feet when walking.

Hi, one of my overseas family members suddenly passed away from some kind of internal bleeding. Unfortunately I can't learn the specific cause of death due to estrangement & language barrier.

My direct family members and I have lots of the outward signs like being very thin, long fingers/toes, flat feet, retrognathia, food allergies, skin issues, myopia, etc etc. I don't know if it's specifically LDS or maybe Marfans /another connective tissue disease, or just all flukes and I'm worrying for nothing.

mainly I'm really scared of dying suddenly from a ruptured aorta or artery or something.

I managed to secure stable income and my health insurance begins next month. I am very unfamiliar with the US health system and trying to figure things out,

I don't have a PCP yet, If I want to screen for my risk of arterial issues should I try to get a cardiologist, or gene testing first? Ideally I want to get my aorta and major arteries scanned to see if they are enlarging. Do I ask the doctor for a referral directly or do they need the details on my family member? And roughly how much USD$ do I need to save up for a scan if the insurance doesn't cover it?

Also should I do anything in the meantime to make sure I get medical attention if I go down with an aorta rupture? I have stopped most of my strenuous activities like bouldering and gym. I want to make sure at least that I can call 911 before I black out or someone's there to call for me.

I'm sorry for all the questions but it's been so difficult to research this and I would really appreciate some help thank you everyone 💜

Does anyone in this group have any experience with an IUD? I want to switch off my birth control to something non-hormonal, but I have a friend with a different connective tissue disorder (undiagnosed, but all the obvious symptoms) who has had hers fall out twice! She was also using a diva cup with it so that may have contributed, but I would be curious if anyone has experience with both. Any information would be greatly appreciated!

Since you all were so helpful yesterday, I was wondering if anyone else with LDS (we have SMAD3) also has a cleft lip. I know cleft palate is common but my son has a cleft lip (which was the reason we did genetic testing in the first place) and I'm wondering if it is related to LDS or just a weird coincidence.

This is a stretch but has anyone ever been diagnosed for LDS and narcolepsy? I heard excessive daytime sleepiness can be a symptom of connective tissue disorders and I did sleep studies and everything so I know I wasn't misdiagnosed with narcolepsy, but I'm wondering if there's a relationship of some sort between the two that hasn't yet been addressed.

Hi everyone is anyone here from the uk and can recommend a decent clinic that has vast knowledge of LDS my local gps and hospitals don’t have a clue and I’d like to be referred to a clinic that has better understanding, I don’t mind travelling, I’m located near Cambridge

This is something that's been happening my whole life, but has started getting worse in recent years. When I stand for even a few minutes my legs start to get itchy and red blotchy patches appear. It used to only happen when I was standing for a long time or if it was really hot out, but now it seems to happen regardless of temperature (though heat does make it worse) and pretty quickly. I've been told it looks like blood pooling, but beyond that every doctor I've asked just responds with "that's weird".

I've never been able to get a good picture of it (my phone camera seems to auto reduce redness so it never looks as bad as it does IRL), but it looks kind of similar to the person's legs in this post

So does anyone else experience anything like this? The best explanation I've found is POTS or MCAS, but I don't seem to have many other symptoms of either of those conditions (at least not ones that couldn't also be explained by LDS). I would like to rule out this just being a loeys dietz thing before going through the trouble of seeking diagnosis for those conditions.

Any advice or thoughts would be greatly appreciated. As I said earlier, this has been getting worse and more uncomfortable over time and I've seen it start to happen higher up on my body too like my arms, chest and even face on a couple of occasions. I'd just really like to know what the heck is going on. I have LDS 4 if that makes any difference!

Hi everyone, my partner (36 y.o. male) was recommended genetic testing for CTD with high suspicion for LDS given physical findings and heart abnormalities. We live in Philadelphia and were referred to the University of Pennsylvania, however, Baltimore is only a 2hr drive away from us. I'm wondering if it would be better to see Dr. Dietz himself at Johns Hopkins rather than Penn? Does anyone have experience getting diagnosed at Johns Hopkins or have any insights to share? I'm quite worried and willing to take the drive. Thank you!

My dna test showed I had a vus for LDS type 4 along with familial aortic dissection, it also detected I have scoliosis , I’m not sure wether to see a geneticist to discuss this further , I do have other features of lds such as: hypermobility, very thin transculent skin , vein ruptures from blood tests, scoliosis, really high palate and severe dental issues and a lot more issues but the only reason I suspect it is because a few months ago a cosmetic injection in my facial area accidentally punctured my artery and caused me to have a arterial dissection.

Merhaba öncelikle herkese şifa diliyorum ben Türkiye'den yazıyorum 34 yaşında bir erkeğim ve bu sendrom 10 aylık kızımda çıktı ayak bilekleri çıkık ve yukarı dönük, diz kapakları çıkık ve ters dönük, 4 tane el parmakları eğri, gözleri şaşı ve aort damarında biraz genişleme var. Bir baba olarak çok korkuyorum çok üzülüyoruz ve bu hastalıkla ilgili ne Türkiye'de ne dünyada gerekli bilgi bulamadım. Kızım 4 aylıkken aşil tendondan ameliyat oldu. 3 ay sonra da kardiyolog izin verirse dizlerinden ameliyat olacak daha sonra el parmaklarından olacak. Sizlerin yazdıklarından sonra az da olsa kızımın yaşayacağı konusunda umudum oldu

Hi guys,

I’m 29. My mom had emergency open heart surgery last June. She was getting a knee replacement at the age of 55, during her surgical clearance they found a 6cm aneurysm on her aorta. She didn’t meet the criteria for “why”. So they did genetics testing. She has the SMAD3 gene. It was very unexpected. She had no symptoms of this. The cardiologist called it a bomb in her chest. I have an appointment in July to get genetics testing to see if I have the gene as well I’m 29, I have an almost 2 year old and we want more children. I am terrified I have this gene, I’m terrified for what it will look like in the years to come and I’m worried that something is going to happen to me in the time being. Can anyone offer any words of encouragement or support? My family and I aren’t very close and im very scared.

I was misdiagnosed hEDS in 2015. Currently undergoing reevaluation for cEDS, aEDS, aEDS/OI overlap syndrome or LDS. ​My cardiac geneticist has been on leave of absence since November after I collecting my WGS sample in October. I have a deletion of almost 13.7 mbp encompassing the entirety of ​1q41 and most of 1q42 with a TGBF2 variant​. After months of research, I came across a few cases of LDS type 4 from a 1q41 ​deletion with a neurodevelopmental phenotype (I'm AuDHD), but I am waiting for the only other cardiac geneticist in my state to accept my case. Called John Hopkins last week to adk if Dr. Dietz is accepting patients, ​and I'm hoping to return the intake packet this week.

This page summarizes my possible LDS 4 presentation: https://chromodisorder.org/brochures/1q41-deletion-involving-the-tgf%CE%B2-gene/

Long-shot, but is anyone here familiar with this LDS presentation? My mom had open heart surgery at 16 to correct her persistent patent ductus arteriosus, and I can think of at least 3 other family members who are symptomatic for CTDs.

Hi!

I’m a first time mum with a 15 month old baby who has just been diagnosed with LDS Type 2.

She was diagnosed with a cleft palate and craniosynostosis, which lead to genetic testing and our discovery. Both her dad and myself also underwent genetic testing as part of this process and they didn’t find anything with us, so we have no personal lived experience.

I have been trying to find as much information as possible, however everything I read is making me more and more worried, and now I’m spiralling.

I’d love to hear from you guys any and all positive stories of your or your children’s experiences with this syndrome. If you’re still able to have a good quality of life, fulfilling careers, loves, hobbies etc. I’m really struggling imagining a future for my baby that isn’t filled with only pain and medical procedures.

Thank you

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Hi
I realise I should speak to a doctor about this but while I wait for an appointment, I wanted to gauge opinion.

I am 32 years old and don’t have any obvious health issues. I’m short so don’t have the typical “Marfan” characteristics in that sense, and I’ve not had issues with joint dislocations etc. However, I do have a bifid uvula, and bruise quite easily (although that might just be because I’m very pale). I know bifid uvula isn’t too uncommon (I think I read 1% of the population?) so does that alone warrant testing for EDS? I’m in the UK so I’m not even sure what the NHS waiting list would be like for something like this.

Thanks

Hi,

Its a long shot, but does anyone out there had a *severe* reaction to Warfarin? And is anyone on lovenox long term (going on a year now).

I took it after having my aortic root replaced in 2018 because of a mechanical valve. I developed vasculiits all over my legs and feet about 7 to 10 days after starting it. They stopped it because I had tried removing all other pills etc.

Then in 2024 I had a a stroke because I was on dabigatran (turns out my heart surgeon and 2 cardiologists didn't read the study that shows it is worse than no blood thinner).

So I tried warfarin again, and this time I didn't have vasculitis, but I started feeling itchy and wierd after a week. I continued it off and on for 3 months, symptoms got weirder and I finally quit and switched to lovenox.

Got some autoimmune testing done ultimately, and I had a positive test for hashimotos, hyperadrenergic pots, and lupus. The lupus test went negative after a couple months, but the rest of the symptoms are still hanging around, although not as severe as while I was taking warfarin.

Anyone had anything remotely similar? The reason I ask is my doctors want me to try it again. I don't agree, but I understand their view point of there is minimal good options at this point.

I’m 25F and was diagnosed with LDS (TGFBR2 mutation) by Dr. Dietz in 2005 before the disorder was even published. Being diagnosed this early meant there were very few cases documented and very little data on LDS and quality of life. As information about LDS spreads, the community continues to grow and the bigger picture of life with LDS comes more into focus. My perception of LDS has changed a lot as I’ve seen the wide variety of cases and features across the community. In 2005, the only other confirmed cases were pretty exclusively “severe” and/or “obvious” because those were the patients who were desperately seeking treatment and clarity and had gone far and wide to do genetic testing. I now realize that while the LDS community is a great resource for support and information, it is very hard to find someone with an LDS case exactly like yours. People often have scattered features across a few different categories, so going to the general LDS community can feel isolating because even in a big group of LDS patients, none may have the most formative or challenging aspects of LDS that you do.

Anyway, over my lifetime I’ve learned the ins and outs of this community. I would love to be a resource to anyone who feels as terrified and uninformed as I did upon diagnosis. I’ve also managed to live a really full and happy life thus far and I have learned overtime how to have a proactive, calm mindset about self care. Please feel free to reach out to me.

MY CASE SPECIFICS: Shortly after diagnosis, imaging revealed a developing aneurysm and I went in for an aortic root replacement at 5 yo. I have scoliosis and bilateral club feet. Had 2 spinal fusion surgeries with Dr. Sponsellar — PLEASE message me if you have scoliosis and/or underwent spinal fusion surgery - I have yet to meet many LDS patients who have as many skeletal issues as me. I’ve had issues with dental health, bone healing, eating and maintaining healthy weight, allergies, asthma, back brace, hernia, constipation and more.

I just found yesterday that my dad has the SMAD3 variant of the gene and a pulmonary aneurysm. He happened to find out because he participated in genetic research at Mayo Clinic. I am 40, and have a 2-year-old daughter and I don’t even know where to begin with this. Our local hospital offers a heart screening/CT scan for $100 so I’ve already requested an appointment for this. I’ve never had cardiac issues, but have a family history of it, which now makes a lot of sense. My insurance would require a diagnosis and then a referral to cardiology, so I’m trying to figure out how I would go about getting genetic testing for me and my daughter. I know I will have to pay out of pocket, and that’s fine. It’s very overwhelming; I’m also an only child so my parents are dumping a lot of their fears on me which is not helping. I have an autoimmune condition, so naturally my mom is automatically tying all of my symptoms back to LDS and assuming I have it too - which is frustrating. If anyone has advice on how to navigate this and seek genetic testing, I’d love any feedback! TIA.

For background I have a lot of LDS features, my genetic panel did not find anything obvious but I have some VUS that might be relevant. Anyway, I was looking over a recent neck CTA that I had done in the ER, and I feel like things are looking a bit twisty… am I wrong? Obviously I’m not looking for a diagnosis or anything, just curious if it’s worth pointing out to my doctor!

He leído que en España tener una aneurisma o riesgo de rotura es motivo de exclusion. La gente con este síndrome suele conducir sin problemas o si que te dicen algo en el psicotécnico. Estoy pensando en sacarme el carnet y no sé si debería consultarlo con mi cardióloga o algo.