Marfan Syndrome

Hi @fabienneolausson, and welcome to Mayo Clinic Connect. You have received quite unexpected news and I understand why you feel overwhelmed. I imagine Marfan Syndrome is something you have never considered since you do not have the typical physical features of this inherited disorder.

Here is a summary of Marfan’s that may be valuable if you have not reviewed it: https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

Since Marfan syndrome is a connective tissue disorder, you might want to read through the conversations in this Connect discussion:
– MCTD (Mixed Connective Tissue Disease ) https://connect.mayoclinic.org/discussion/mctd-mixed-connective-tissue-disease/

My son missed a summer of activity when he started high school because of a Marfan’s scare. Genetic testing was not yet available and what I remember was checking the box for two of three major categories meant you were positive for Marfan’s Syndrome. He and I both could manipulate our joints during testing in strange ways and our “wingspans” (arms up and straight out at our sides) measured longer than our heights, indicating we fit the physical criteria (there was more but these stand out).

Because Marfan’s commonly affects the heart, eyes and blood vessels we both had further testing in those areas. All was ok, then next would be to retest over time to see if there were changes. Specifically, we were told a crisis would be for diameter of the aorta to grow causing it to detach. Fortunately, we knew/know someone living with the condition for a full lifetime that helped ease our anxiety through the initial testing process. He reinforced the key to being healthy would be monitoring.

You asked for advice. While neither my son nor I ended up being diagnosed with the disorder, I have learned about it. I have two thoughts:
- My son’s initial baseline ophthalmology exam and echocardiogram were normal. His repeated echocardiogram was also normal. Normal is good, of course but not what we needed to hear. We expected to be able to compare to see if the aorta diameter had changed. He did have both tests done at the same place but they did not track this information, so I would recommend knowing what information you are going to want to look back and see to make sure you get it from the beginning.
- My son is in his late 30’s now and had a cardio scare a few years ago. His primary doc suspected Marfan’s and was able to genetically rule it out. I am interested to know if Marfan’s is an all-or-nothing condition or if there’s something sneaky that can happen, worth knowing about. It’s too strange that this keeps cropping up for him.

I am tagging @twofeathers8613, @ryan8410, @10250kam, @pamela78 that have mentioned Marfan’s, hoping they have information to share that may help. I am glad to hear you will review testing with a cardiologist in less than a week. More information is helpful. Please come back and provide an update.

You mentioned initially suspecting Malignant Hyperthermia. If you are comfortable, would you share what led to medical testing in the first place? What is your biggest concern right now?

Hi Janell / Fabbienne O. ,

This is Kam ( @10250kam ). , Update on my case. I hope some of my experience can be helpful to your son. Sounds like we have some common characteristics and traits that are too often associated with Marfan Syndrome.

This past year was a big year for me since my original postings. I had successful surgery on Dec. 6, 2024 at INOVA Schar Heart and Vascular Center in Fairfax, Virginia. My surgeon was Dr. Eric Sarin. I am actually coming up on my one year anniversary. Ultimately, my surgeon was less concerned with my enlarged ascending aorta and more concerned with my severely regurgitating mitral valve. After much debate and research, he recommended a Mini Annuloplasty ( entry via ribcage ). The heart and vale were found in good shape during procedure, so I only had a annuloplasty ring placed. Repair is always better than replacement. Procedure was a success. I feel less tired and winded with my routines, sports, etc. In fact, I am still doing some weights. But, there is more to the story.

As most patients are aware, the ordeal can take a year to plan a major open heart procedure. Seems like I was getting some kind of test every other week. Trans esophageal, catheterization , etc. etc. Early in the testing, I found out INOVA was offering some form of genetic testing. Offered by INVITAE
https://www.invitae.com/us/patients-and-individuals
With all the advancement in genetic mapping and testing, I was delighted to find our INOVA hospital offered testing for Marfan's and other degenerative tissue disorders. I jumped at the opportunity to get a definite test for Marian's. I felt that everything I heard over years with family history, my own features like wingspan, and family history of cardiac issues, may have been anecdotal. To my surprise the gene for Marfan's came negative, but the test for Loeys Dietz Syndrome came back with a Variant of Uncertain Variant. Good news and uncertain news.
https://marfan.org/conditions/loeys-dietz/.
The TFGBR1 gene is associated with Loeys-Dietz syndrome (LDS). The other connective tissue disorder. My genotmic test showed this gene as Variant of Uncertain Significance.

Ultimately I met with my surgeon, Dr. Eric Sarin. I gathered a pile of my cardiology test over the past 27 years ( I am 66 now ). He looked at both my issues. I was concerned I would need both surgery for my aorta and mitral valve. With my baseline 4.5 cm ( don't quote me on size ) and activities ( weight lifting, working in yard, etc. ) he was less concerned about my aorta at this stage. He said we will monitor it at least every year. So I split the different and agreed to the Mitral Valve repair.

I have been upfront with my primary cardiologist. I told him I would like to continue my lifestyle and activities. I continue to do pushups, exceed half of my body weight in lifting, and continue to ride. My agreement is to be tested regularly. I am still on a small dose of Beta blocker ( carvedilol ) and statin. With no side effects. I think my your cardiologist was surprised that I don't have Marfan's. He did all the routine tests and strongly suspected Marfan's.

You have to be your own advocate. Gather your tests / imaging etc. . They will provide a baseline. With each year, you can monitor progress. If the changes are slow and not sudden, perhaps with diet, keeping weight in check, keeping eye on blood pressure, exercise, and maybe Beta blocker, you can keep everything in check. That's my situation. Ironically this years I have had my share of skin cancer events ; a number of M

Lastly, the hardest part for me was the year of unknown and constant testing. Once, I had my procedure and started on my cardiac rehab, I realized I was alone. I was in a room full of other friends and contemporaries who had various open heart procedures. All doing well. It is amazing what cardiovascular centers and surgeons can do these days. More routine that you would think.

I hope I may have shared something new and offered some hope. Not long ago I too was diagnosed with potential enlarged aorta associated with Marfan's. I had never heard of Loeys-Dietz. Perhaps there are other genetic variants that we have yet to associate with various cardiovascular conditions.

I am happy to speak by phone or direct email.

Kam

The Invitae genetic test I took for Marfan Syndrome. I would ask a physician or Invitae to explain the different test results and which variants are associated with the heart. More confusing than just a positive or negative. So before you spend the out of pocket cost, you may want to thoroughly understand the half a dozen outcomes.
https://www.invitae.com/providers/test-catalog/test-02312
The M at end of third paragraph was meant to be Mohs Surgery.

Kam