February is Marfan Awareness Month and I am sharing my personal journey as a Marfan warrior. Hopefully this blog can help nurses recognize the outward signs and features, and what emergencies to be aware of for those with the syndrome.
I was diagnosed with Marfan syndrome
in 2006 after the diagnosis of my daughter. We had changed pediatricians in 2004 and our new physician heard “something, maybe a click” when he listened to her heart. He suggested we follow up with a pediatric cardiologist to have it evaluated. At the pediatric cardiologist, my daughter had an echocardiogram, and after listening to her heart, looking in her mouth, and checking her arm span, he said, “I think your daughter may have Marfan syndrome. The sound that your pediatrician heard was mitral valve prolapse, which can be one of the indicators of the syndrome. She also is tall, thin, near-sighted and has an arched palate.” Her echocardiogram indicated that her z-score for her aorta was slightly abnormal, which is also a characteristic of Marfan. He gave us a referral to a pediatric geneticist for further evaluation and diagnosis.
Marfan syndrome and genetics
I remembered from nursing school that Marfan syndrome was genetic and affected the heart, and that most people with the condition are tall, but I could not remember much else. Later I would learn it is an autosomal dominant genetic disorder that affects connective tissue through out the body. Autosomal dominant means that if a parent has the disorder, there is a 50 percent chance that each of their children will inherit the disorder.
The geneticist took a family medical history from each parent, gave us a referral to orthopedics and performed a physical examination. My daughter showed many of the markers for Marfan syndrome, but not all the markers. The family history revealed that I was most likely the parent with the genetic mutation, however, we did not have the “classic Marfan look” so it was determined that both my daughter and I should have the genetic test for the FBN1 mutation. At the time, genetic testing was still relatively new. My daughter and I both tested positive for the FBN1, which is consistent with a diagnosis of Marfan syndrome.
The Marfan features that I had were mitral valve prolapse, scoliosis, flexible joints, nearsightedness, and aortic dilatation. An adult geneticist confirmed my diagnosis of Marfan syndrome. It was recommended I see a cardiologist regularly and establish a relationship with a cardiac surgeon. Over the next couple of years, I had echocardiograms and a relatively steady but stable aortic root progression. I began taking a beta-blocker to hopefully reduce the rate of dilation. One of the major concerns with Marfan syndrome is aortic dissection. Prophylactic surgery is often performed on the aortic root to prevent this.
A series of surgeries
In 2012, I had a valve sparing operation, which included repairing the aortic root and ascending aorta, but sparing the aortic valve. My aortic root measurement had reached the surgical threshold, the point that the surgeon felt indicated the need for surgery. I underwent the David V procedure to prevent the risk of an aortic dissection. I’d like to say surgery was no big deal, but it was major open-heart surgery and I probably did not feel completely myself until almost six months had passed. However, I felt lucky that I was diagnosed when I was, as the diagnosis was most likely a lifesaver. Prior to prophylactic cardiac surgery, the life span for those with Marfan syndrome was 35-45 years due to complications (when the aorta enlarges, it could tear or rupture, causing sudden death). Now with early recognition, those with the syndrome are living to almost normal life expectancies. Knowing this made my 46th
birthday extra special.
Recently I had spinal fusion surgery that corrected my scoliosis and herniated discs due to an injury this past summer. My fusion is from T6 to my pelvis and the recovery can be challenging. As I type this, it is almost week 8 and I am most happy to say so far so good. I feel like now I have had two of the more common surgeries those with my syndrome experience.
Living with Marfan syndrome
Living with Marfan syndrome means I get regular eye exams, since I am prone to early cataracts and lens dislocation. It also means I listen to my body closely and try not to ignore eye pain, am careful to protect my joints (dislocation), make sure I don’t ignore chest pain or abdominal pain (I can still have an abdominal aneurysm, although that is rare), and I continue to get echocardiograms to monitor the rest of my aorta.
What nurses need to know
So, what can we as nurses do to ensure that those with Marfan syndrome or who may have the signs or symptoms get the best care possible?
Knowing the signs of Marfan syndrome can save lives. People are born with Marfan syndrome and related conditions, but they may not notice any features until later in life. The features of Marfan syndrome and related disorders can appear at any age. Some people have many features at birth or as young children; others develop features, including aortic enlargement, as teens or even as adults. Some features are progressive, meaning they can get worse as people age.
All of this makes it very important for people with Marfan syndrome and related conditions to have ongoing monitoring, especially for potentially life-threatening complications, such as aortic enlargement. An accurate and early diagnosis helps to ensure proper treatment. Some treatments can prevent symptoms from getting worse and ultimately save lives.
Every person’s experience with Marfan syndrome is slightly different. No one has every feature and people have different combinations of features. Some features of Marfan syndrome are easier to see than others. These include:
- Long arms, legs and fingers
- Tall and thin body type
- Curved spine
- Chest sinks in or sticks out
- Flexible joints
- Flat feet
- Crowded teeth
- Stretch marks on the skin that are not related to weight gain or loss
Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these complications.
Getting a diagnosis and appropriate treatment, regular monitoring and making lifestyle modifications gives affected people the best chance of avoiding a serious complication of Marfan syndrome. Still, there are no guarantees as emergencies
related to the eyes, lungs, and – most seriously – the aorta, can occur.
Emergency healthcare providers who know the signs of Marfan and understand its seriousness can expedite imaging and other tests, so that affected people receive the urgent care they need.
I would like to thank The Marfan Foundation for all their resources and support. For more information for healthcare providers and for patients and families, please contact The Marfan Foundation