Updated: Apr 28
Today is Scientific Sunday at Aortic Hope and we are excited to continue our Genetics 101 Series with Ryan Rodarmer.
Over the next couple of weeks, Ryan will discuss a variety of topics related to genetics. Use these discussions as a way to have a conversation with your physician.
Marfan Syndrome: Understand the Connection to Aortic Dissection and What you Need to Know.
Hi all! Ryan again, with another entry in our blog series on genetics and aortic disease. If you missed the first post in the series, it’s a very important place to start, as I laid down some important groundwork there for the rest of the series. I’ll be using terms from that post throughout the rest of the series, so please check it out if you haven’t!
Let’s dive into the world of Marfan syndrome! As someone who’s been both a genetic counselor and a (fairly tall) survivor of type A aortic dissection, I know just how important it is to understand this condition. You see, a lot of people – even doctors – might think that being tall and thin with aortic disease automatically means you have Marfan syndrome. But that’s not always the case. There are many other reasons someone might have aortic issues, and Marfan syndrome is just one of them.
In my journey, I’ve come across doctors who couldn’t understand why I didn’t have Marfan syndrome. Even after using my expertise to explain why Marfan wasn’t behind my aortic disease, it would still end up in my medical chart. This is important because misdiagnosis = mismanagement. That’s why it’s so important to spread the word and make sure everyone knows about Marfan syndrome (and related conditions), not just healthcare providers. Survivors, families, and caregivers should also be aware of the condition, especially if they’re dealing with an aortic aneurysm or dissection or think Marfan syndrome might cause related issues in themselves or their families. In this article, I will share my knowledge and personal experience to help clear up some of the confusion around this often misunderstood condition.
What is Marfan Syndrome?
Marfan syndrome is a genetic disorder that affects the body’s connective tissue, which provides structure and support for various organs and tissues.
The condition, which is estimated to affect around 1 in 5,000 people, is caused by a mutation in the FBN1 gene and is inherited in an autosomal dominant manner, meaning that if one parent has the syndrome, there’s a 50% chance for each child to inherit the condition.
About 75%, or 3/4 of the time, the condition is inherited from an affected parent. The other 25%, or 1/4 of the time, the condition occurs as the result of a new genetic typo in the child; however, that affected child’s future children would then have a 50/50 chance.
Symptoms and Diagnosis
1. Musculoskeletal system: Long limbs, scoliosis, a chest wall that sticks out (pectus carinatum) like a pigeon-chest, or caves in (pectus excavatum), characteristic facial features, and flat feet are the most common findings. Many assume joint hypermobility; however, many people with Marfan syndrome are not overly flexible, and in fact, one finding that suggests Marfan syndrome is actually reduced flexibility at the elbows.
2. Cardiovascular system: enlargement of the aorta (usually the aortic root and ascending aorta) and mitral valve prolapse. Of note, I know people with Marfan syndrome whose thoracic aorta was being appropriately monitored who went on to experience an abdominal aortic dissection because their entire aorta wasn’t being monitored. It’s NOT just the ascending aorta and root that are at risk in Marfan.
3. Eyes and vision: significant nearsightedness, lens dislocation, and increased risk of retinal detachment. Of note, lens dislocation (called ectopia lentis) and enlarged aortic root together equals Marfan syndrome. The other syndromes we will talk about don’t cause this combination, so even in the absence of other Marfan findings, ectopia lentis and enlarged aortic root is Marfan.
4. Pulmonary and other systems: lung issues (spontaneous pneumothorax, where air gets trapped between the lung and chest wall, making it difficult to breathe), hernias, and stretch marks unrelated to weight gain.
To diagnose Marfan syndrome, doctors use the Ghent criteria, which take into account family history, physical examination, eye and heart imaging, and genetic testing. Early diagnosis is crucial to properly managing the condition and preventing (or lowering the risk of) complications.
Marfan and Me…
Before moving on, I want to chat a little bit about my personal health history and my experience with Marfan syndrome. I’ve told my story to a number of people who couldn’t understand WHY they were being told they didn’t have Marfan syndrome when it seemed like such a great fit. They had grown very frustrated about not receiving a diagnosis. Telling my story has seemed to help others understand this and, to some degree, grow more comfortable with not being diagnosed. Remember, misdiagnosis = mismanagement. Not having an answer can be better than embracing the wrong answer.
Here’s the thing - when we receive a diagnosis of aortic aneurysm, or when we or someone we love suffers an unexpected dissection or rupture, it is human nature to need to know why. Why did this happen? We then overhear a random doctor mentioning Marfan syndrome, whether Marfan syndrome should be considered or not. We jump online, and we convince ourselves that because we have a Marfan characteristic or two, it must be the explanation. Here’s an excerpt from my story regarding the moment I was simultaneously diagnosed with significant mitral valve prolapse and an enlarged aortic root:
I had previously asked my genetic counseling instructors if I had Marfan syndrome due to my long arms, legs, and fingers and poor vision. The obvious answer was no, and in part, I didn’t really believe I had Marfan syndrome - but now I found myself staring at the hospital ceiling, somehow with the heart of a Marfan patient, and I worried about my 4-year-old son.
I had quite a few of the body findings… very long limbs and fingers (I tower over my parents… I’m absolutely massive compared to both), as well as extreme nearsightedness, having first needed glasses around the first or second grade. I now cannot read large letters, even just 24 inches from my eyes. So when my heart perfectly fit the bill at the young age of 22, it was difficult to imagine there was a cause other than Marfan syndrome.
But then I met and was involved in the diagnosis of many people with Marfan syndrome over the course of the next 15 years. While we shared some characteristics, I began to see that those similarities weren’t nearly as important as the clear differences. Our hearts? Yeah, those were the same. But the rest of me… despite some characteristics of Marfan, I began to see and grow comfortable with the idea that there was some other cause for my aortic disease.
Additionally, genetic testing of the FBN1 gene was negative (or normal). Normal genetic testing doesn’t entirely rule out Marfan, but it lowers the odds quite significantly. The last bit of evidence that I needed to get the idea of Marfan syndrome out of my head was that my father and additional relatives were found to have enlarged aortic roots as well, and NONE of them had a single feature of Marfan syndrome outside of needing glasses. Everyone in the family needs glasses, even those with normal aortas.
So there you have it… the aneurysm risk had nothing to do with my long limbs, long fingers, vision issues… it was separate. It wasn’t Marfan. My related characteristics were just a coincidence.
I hope this helps those who are struggling with not meeting the criteria for Marfan syndrome (or other related syndromes). One can have a number of features of the condition, but that doesn’t mean they have Marfan. Not everybody who is tall has Marfan. Not everybody who has Marfan is tall. And I’m okay with not being diagnosed, because despite not having a diagnosis or knowing the underlying cause of my aortic disease, I can still make sure that my children get the appropriate monitoring.
Marfan Syndrome and Aortic Dissections
Early diagnosis, surveillance, and preventive medicine and procedures are important. Marfan syndrome patients are at a higher risk for aortic dissections due to the weakening of the aortic wall. This is why it’s essential for aortic dissection survivors and their families to be aware of the potential connection to Marfan syndrome, but just as importantly, just the potential relationship to genetics and heredity in general. As mentioned in my first post, this is especially true when dissections occur at less than 60 years, in the absence of diet/lifestyle risk factors, and most importantly, when they occur at the aortic root or ascending aorta, which was also mentioned in that first post. For real, go check it out if you haven’t!
Management and Treatment
While there is no cure for Marfan syndrome, proper management can significantly improve a person’s quality of life. Regarding the heart and blood vessels, this includes:
• Regular check-ups and monitoring: Keep up with appointments and tests to monitor aortic size and function.
• Medication and lifestyle modifications: Medications such as beta-blockers may help slow down aortic enlargement, while lifestyle changes like avoiding contact sports and heavy lifting can reduce the risk of injury.
• Surgical options: In some cases, surgery may be necessary to repair or replace the aorta.
• Psychological and emotional support: Seek therapy, join support groups, or connect with others who share similar experiences to help you cope.
I’ve spoken here about the management of heart/aorta issues, but orthopedic monitoring and management are important for many with this condition as well, such as foot surgery for painful flat feet, bracing or surgery for scoliosis or chest wall differences, etc. In fact, someone with Marfan syndrome should establish care with a geneticist (either locally or via telemedicine options) as well as a multidisciplinary team which may include ophthalmology and orthopedics, as well as others!
Genetic Counseling and Testing
Genetic testing can help confirm a Marfan syndrome diagnosis and provide valuable information for family members who may also be at risk. A genetic counselor like myself can guide you through the testing process and help you understand the implications of the results. If the gene mutation in the family has been found, genetic testing can be used to determine who is at risk for Marfan-related health concerns (and should undergo appropriate monitoring) and who is not. Those that test negative for the family’s mutation are now at general population (in other words, low) risk for the condition instead of 50/50!
In future blog posts, I will be talking about all things genetic testing. This will include cost and insurance coverage, how to interpret results, and genetic discrimination, among other things. Stay tuned! If you can’t wait, you can ask your family doctor or cardiologist for a referral for genetic counseling. Please note: seeing a genetic counselor DOES NOT obligate you to have genetic testing. It’s our job to help you make an informed decision that fits YOU.
Living with Marfan Syndrome
It’s important to remember that you are not alone in your journey with Marfan syndrome. Here are some suggestions for coping and finding support:
• Coping strategies: Stay informed about your condition, communicate openly with your healthcare team, and develop healthy habits.
• Support networks: Connect with local or online support groups, as well as friends and family members who understand your situation.
• Advocacy and raising awareness: Share your story, educate others about Marfan syndrome, and participate in events to raise awareness.
In conclusion, understanding Marfan syndrome is essential not only for healthcare providers but also for survivors, families, and caregivers dealing with aortic dissections or suspecting Marfan syndrome as an underlying cause. While there is no cure, early diagnosis, and proper management can significantly improve a person’s quality of life. Remember that you’re not alone on this journey, and finding support networks and advocacy opportunities can make a difference. Keep an eye out for the next post in this series, where I will discuss Loeys-Dietz syndrome, another important and related connective tissue disorder.
Together, we can raise awareness and help demystify these often misunderstood conditions.
Keep an eye out for more interesting articles, and don't forget you can always ask me questions at firstname.lastname@example.org. Let's learn about this together, with the help of Aortic Hope! And remember, #thinkaortathinkfamily!
The views, information, and opinions presented here are those of the individual(s) involved and do not represent the opinions of The Marfan Foundation. The Marfan Foundation is not responsible for and does not verify for accuracy any of the information contained here, nor does the information constitute medical or other professional advice or services. This website is not produced by or affiliated with The Marfan Foundation or The VEDS Movement.