Scimitar Syndrome: Anyone else have this?

Wow thank you for the responses!
Thank you so much for the concise background information. @tommy901 hopefully your cousin is doing fine! That's so scary!

I was super lucky and my surgery has held up really well. Honestly, I didn't even think about my condition until around 30 years old when I started having episodes of supraventricular tachycardic arrthymia. Turns out I had a functional hormonal tumor in my pituitary gland causing my endocrine system to go into overdrive which strained my heart.

For me managing this condition means having an endocrinologist for the brain tumor, electrophysiology for the arrthymia, cardiologist for the heart itself, pulmonologist for the lung and asthma, and pain management and orthopedic doctor for the spinal fusion/scoliosis. I deal with being short of breathe and loads of fatigue and pain from the scoliosis.

Hello @te1234,

I want to welcome you to Mayo Connect. I see that @tommy901 has already provided you with some background information. I did an internet search and found that scimitar syndrome is considered an orphan disease (i.e., rare). Here is a link to the information I found from Orphanet: https://www.orpha.net/en/disease/detail/185

I see that you were diagnosed with this disorder at 9 months of age. Besides the surgery you had at that time, what other treatments or medications have you taken for this? Do you have regular follow-ups with a cardiologist or pulmonologist? What is the most bothersome symptom(s) you currently have?

@te1234 I personally don't know of anyone who has this condition. I do have a cousin that was born with her heart outside of the chest due to a rare condition called "ectopia cordis". Here is some information which you are probably already familiar with.

Scimitar syndrome is so rare that it’s completely understandable you haven’t met anyone else with it. Many people with congenital heart conditions grow up without ever meeting someone with the same combination of findings.

Here’s what’s known from the medical literature and from patient communities:

• Dextrocardia (heart shifted toward the right):

This is fairly common in scimitar syndrome. It happens because the right lung is often smaller, so the heart shifts into that space.

• Right lung hypoplasia:

Also very common. Many people with scimitar have an under-developed right lung and sometimes fewer bronchial segments. Lung function varies—some people have no daily symptoms; others have mild exercise intolerance or more frequent respiratory infections.

• Congenital scoliosis:

Less common, but still reported. Because the chest cavity can be asymmetric (from the lung hypoplasia and heart position), some patients do develop scoliosis or other skeletal differences. There are case reports describing this combination.

• Adult experiences:

People who had surgery in infancy often do very well into adulthood. Some things that come up in adult follow-up include:

Monitoring for pulmonary hypertension.

Watching for any residual abnormal blood flow.

Tracking lung function.

Occasional arrhythmias.
But many adults remain stable for decades.

• You’re not alone—even if it feels that way.
The condition is so rare (roughly 1–3 in 100,000) that most patients never meet another person with it, but the pattern you describe is documented. Some congenital heart disease centers have adult congenital heart disease (ACHD) support groups where you may find others with rare diagnoses.

Hi! I'm not sure if anyone will see this since it's on an older post. I had open heart surgery at 9 months old for scimitar syndrome. I'm now 36 and was just curious about others experience with the syndrome. I've never met anyone else with it. Anyone else have dextrocardia, pulmonary hypoplasia on the right, and congential scoliosis as apart of their condition?

I am glad to hear that you are being seen at Mayo. The combination of rare disorders is difficult to deal with, I'm sure.

Do you have limited mobility? How do you keep occupied during the day? Are you able to sleep at night?

@hopeful33250 Thankfully I am lucky enough to have all of my cardiology care at the Adult congenital clinic at Mayo Scottsdale. I’m a full time patient. My most difficult complication is that I have a very hard time breathing since the vein relocation. Unfortunately I got really bad pulmonary vein stenosis where they attached the pulmonary vein in my left atrium. I never had low oxygen levels before surgery but I was sent home from the hospital on oxygen and still have to have it. They had to place a stent to get blood flow back and I’ve had several surgeries after to open the stent more because of restenosis causing a blockage again. Now I also have severe hypocapnea that took years and lots of tests and different types of doctors at Mayo to figure out. Finally someone decided to refer me to Aerospace medicine and an amazing expert there was able to identify the problem right away. As a result of all of this I’ve also suddenly become intolerant of elevation and I have lots of fainting and horrible breathing side effects from the lack of carbon dioxide. Now I’ve got a new issue with my diaphragm which could be a consequence of relocating the scimitar vein. It’s really disappointing because all of my medical team was so excited to fix my vein and close a PFO. They all kept saying that my QOL was going to be drastically better but it made things drastically worse unfortunately. But I’m that rare person that gets all of the rare diseases that I have almost no chance of getting so it should’ve been a sign that I would get the extremely rare complications that they never see. On top of scimitar syndrome I also have a handful of other very rare diseases and disorders. I see seven different types of specialists regularly at mayo and I have had weekly appointments at the clinic since 2011. My biggest health issue has been that I was diagnosed with Polycythemia Vera when I was 16 and I’m highly symptomatic from that. So the cancer fatigue on top of the lack of oxygen, lack of carbon dioxide and the struggle to breathe combined with type 1 narcolepsy and scimitar syndrome just keeps me constantly wiped out and run down.

Hello @mrsneel and welcome to Mayo Connect. This seems to be a rather rare type of heart defect, that is usually found in infants. In reading through some of the posts here, it appears that others, like you, did not know they had this until adulthood.

Here is a link to an article about one woman's experience with this issue,
https://www.heart.org/en/news/2019/02/08/new-workout-routine-helped-uncover-womans-rare-heart-defect
I would like to invite @lisagold70 to discuss this with you as well.

This sounds like a disorder that would be best followed up with an expert cardiologist, and probably one from a research-oriented health care institution, like Mayo Clinic (here is a link for appointment information to Mayo Clinic, http://mayocl.in/1mtmR63) or perhaps a university medical school.

How are you feeling, @mrsneel? What are your most difficult symptoms?

I have scimitar. I had vein relocation in 2018. I’m 44 and they didn’t figure it out until I was 30. Tons of complications since the relocation.

Hola! Tengo una sobrina de 38 años de edad, a ella también hace poco le diagnosticaron el Síndrome de la Cimitarra, le realizaron una operación donde le pusieron una especie de manguera en la vena pulmonar, la operación no fue del todo exitosa porque ahora presenta trombos por lo que no la pueden volver a operar.
Quisiéramos saber a ti que te hicieron o dijeron los médicos de las posibles soluciones a este Síndrome.

@hopeful33250 I have been wondering if you had your surgery and how things went. I just can no longer go through all of the comments to keep up.