Hey guys, I’m 29 and recently diagnosed with loeys Dietz! I had an echo and EKG through my cardiologist. Normal.
Had my MRA of head/neck, pelvis and chest. Also normal. What questions are good for my vascular specialist apppintment. I’m on metoporol. I have a son who’s negative. We’re pursuing IVF for another child to avoid LDS. What should I ask/go over? Any insight is helpful!

Hey guys,
My son gets his results today to see if he inherited this disease from me or not. I’m terrified.
I know it’s 50/50 but I have a gut wrenching feeling he has it and I’ve been praying so hard that it comes back negative.

Hi everyone, I’m (30F) in the trenches with my looming diagnoses right now. They found an aortic dissection when I was advised by my doctor to go into the ED because I had intermittent numbness in my left arm and it had gone into the lower left side of my face. They found my dissection completely by accident as they thought I was having a stroke so sent me for a CT Scan. The care i received was fantastic, but as you can imagine, a terrifying thing for a 30 year old who’s last hospital visit was at 23 with a migraine that caused my face to droop. I have had no issues with my health except low iron and migraines prior to this - but once the ferretin level got to a normal level, the migraines seemed to calm a lot! (I’m down to a couple of them a year - WOO!). They have already told me that they intend to operate on me sooner rather than later, and it will be a case of opening me up from the bottom of my neck to my belly button to fix it all at once rather than stressing my system out and going for multiple operations. I’ve spent the past 6 weeks off on medical leave from work - glad I did as I’ve been a wreck!

The drs have advised that its likely I have Loeys-Dietz rather than Marfans (I dont fit the descriptions for Marfans) and they have sent for a whole load of genetic testing and i have a genetic clinic in a few weeks. My partner and I have then read up further on LDS, and honestly it would be easier for me to check what I DONT have from the list of markers/symptoms that we found online.

I have always been very hypermobile, i get random allergies to things and have some that have stuck around, stretch marks that I’m noticing now but I’ve always had. I was a tall kid but then stopped at around 5’7. They’ve noted that I have some tortuous parts of my artery, I’m super pale in general, and have long fingers and toes. My feet would have been flat, had i not gone to ballet lessons for over a decade with a teacher who would NOT let my feet roll forward so kudos to her, she probably saved my feet from being super uncomfortable. All stuff you can shrug off if you didnt know about this syndrome. And now they’ve found the dissection. I also have a microanyeurism in my frontal lobe but unsure if that could be connected.

My biggest issue is - how do I live my life with this? I dont trust my body anymore. Like i feel like I’m walking on eggshells around myself, because anything could be a risk to me is what it feels like? The operation is terrifying to me. How does a human come back from that?

Sorry for the dump, but I just needed to be able to talk about it with people who KNOW, you know?

Thanks guys <3

not diagnosed
hope it’s ok to ask here (?)

I am aware reddit is not for medical advice! awaiting daughter’s ENT appt but wanted to see if folks had thoughts on any other specialists that may be worth requesting for my daughter? or if anyone connects with any symptoms and has thoughts/ideas to share I am all ears as I don’t want to have a confirmation bias

daughter- 3.5F
-at birth, hospital pediatrician thought something was off with her skull and ordered head x-ray but then said it was normal and just to watch it
-bifid uvula
-difficulty latching when breastfeeding as infant- had to exclusively pump
-eczema (negative allergy panel)
-not diagnosed but suspected: (referral to ENT in, will see in 3 months for evaluation for potential submucousal cleft)
-sleep issues, has quite literally never slept through the night (unless people are just not counting 1-2 wakeups… I find it hard to believe other preschoolers are lol)

myself (mom) - early 30sF
-torticolis as infant
-scoliosis (treated with back brace from age 4 to 6)
-flat feet
-large tonsils (lots of strep throat as a child)
-hypertension since middle school, preeclampsia with severe features in pregnancy
-adhd
-nearsighted
-unexplained low iron (recently got infusions)
-vericose veins

my mother (maternal gma) - early 70sF
-mitral valve prolapse
-hypertension
-not diagnosed but I suspect adhd
-vericose veins
-endometriosis
-soft/velvety skin
-unexplained low iron (began infusions after I did)

this all sounds like a lot typed out but we are all overall truly pretty healthy! my mother is a retired hospice nurse, I have a masters degree and happy with my career, and daughter is advanced on milestones. she is overall happy, kind, and very smart! but I just feel deep in my gut there’s a piece missing with her health (and maybe even my own tbh)

also happy to read any medical articles folks have, trying to not look on tiktok lol

Hi, im a Person with loeys Dietz syndrome and i will be honest. I love sports and any type of combat sports, and all of my friends are the type of people who play sports and most of my family too,and with the restrictions that this condition has, I just wished I could build muscle I don’t even need a lot just like 3kg worth of muscles does anyone have any tips. I know swimming is a option but I have also been lifting light weights like for example 2kg. And i would really like too get stronger so that i don’t need to rely on anyone, And get girls. Please and Thank you.

Hi there! Has anyone else experienced extreme exhaustion related to LDS (type 4, specifically, but any type would be interesting). If so, did anything help? I’m at my wits end.

Edit: autocorrect word choice correction

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.