Marfan Syndrome: One Nurse’s Story

February is Marfan Syndrome Awareness Month and I’m sharing my personal story as a Marfan Syndrome warrior. I hope this blog will help nurses recognize the outward signs and symptoms and what emergencies to contemplate for those with the syndrome.

I used to be diagnosed with Marfan syndrome in 2006 after my daughter was diagnosed. We modified pediatricians in 2004, and our recent doctor heard “something, maybe a click” when he listened to her heart. He suggested we see a pediatric cardiologist for evaluation. My daughter had an echocardiogram done on the pediatric cardiologist, 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 your pediatrician heard is mitral valve prolapse, which can be one indicator of the syndrome. She is also tall, thin, nearsighted, and has a high palate.” Her echocardiogram indicated that her z rating (z scores are units of ordinary deviation from the population mean) for her aorta was barely abnormal, which can also be an indicator of Marfan syndrome (Phillips & Shulman, 2023). He referred us to a pediatric geneticist for further evaluation and diagnosis.

Marfan Syndrome and Genetics

I remembered from nursing school that Marfan Syndrome is a genetic disorder that affects the guts, and most of the people with the condition are tall, but I could not remember much else. I later learned that it’s an autosomal dominant genetic disorder that affects connective tissue throughout the body. Autosomal dominant implies that if a parent has the disorder, there may be a 50% likelihood that every of their children will inherit it.

The geneticist took a family history from each parent, referred us to an orthopedist, and performed a physical examination. My daughter showed lots of the markers for Marfan syndrome, but not all. The family history indicated that I used to be most certainly the parent with the genetic mutation, but we didn’t have the “classic Marfan appearance,” so it was determined that each my daughter and I should undergo genetic testing for the FBN1 mutation. At that point, genetic testing was still relatively recent. My daughter and I tested positive for FBN1, consistent with a diagnosis of Marfan syndrome.

The Marfan symptoms I had were mitral valve prolapse, scoliosis, flexible joints, nearsightedness, and aortic dilatation. An adult geneticist confirmed my diagnosis of Marfan syndrome. I used to be advised to see a cardiologist repeatedly and develop a relationship with a cardiothoracic surgeon. Over the subsequent few years, I had echocardiograms and a comparatively regular but stable progression of the aortic root. I used to be began on beta blockers to hopefully slow the speed of dilatation. One of the key problems in Marfan syndrome is aortic dissection. Prophylactic aortic root surgery is commonly performed to stop this.

A series of operations

In 2012, I underwent valve-sparing surgery, which involved repairing the aortic root and ascending aorta, but sparing the aortic valve. My aortic root measurement reached the surgical threshold, the purpose that the surgeon considered to point the necessity for surgery. I underwent the David V procedure to stop the chance of aortic dissection. I would love to say that the surgery was no big deal, but it surely was major open-heart surgery and I probably didn’t feel like myself for nearly six months. However, I felt lucky to have been diagnosed once I was, since the diagnosis was most certainly lifesaving. Before preventive heart surgery, the life expectancy of individuals with Marfan syndrome was 35 to 45 years on account of complications (when the aorta enlarges, it could actually tear or rupture, causing sudden death). Now, because of early detection, individuals with the syndrome live a near-normal lifespan. Knowing this has made my 46^t birthday extremely special.

I recently had a spinal fusion to correct my scoliosis and herniated discs from an injury I had last summer. My fusion is from T6 to my pelvis and recovery might be difficult. As I write this I’m almost 8 weeks in and I’m blissful to say that thus far so good. I feel like I even have had two of probably the most common surgeries that folks with my syndrome experience.

Living with Marfan Syndrome

Living with Marfan Syndrome means I even have regular eye exams because I’m liable to early cataracts and lens luxation. It also means I listen fastidiously to my body and take a look at not to disregard eye pain, take care to guard my joints (dislocation), be sure that I do not ignore chest pain or abdominal pain (I could still have an abdominal aortic aneurysm, although that is rare), and proceed to have echocardiograms to watch the remainder of my aorta.

What nurses must know

So what can we as nurses do to be sure that individuals with Marfan syndrome or who could also be experiencing symptoms of the condition receive one of the best possible care?

Knowing the symptoms of Marfan syndrome can save your life. People are born with Marfan syndrome and related conditions, but they could not notice any symptoms until later in life. Symptoms of Marfan syndrome and related disorders can appear at any age. Some people have many symptoms from birth or as young children; others develop symptoms, including aortic enlargement, as teenagers and even adults. Some symptoms are progressive, meaning they’ll worsen as they become older.

All of this makes it very necessary for individuals with Marfan syndrome and related conditions to be monitored closely, especially for potentially life-threatening complications similar to aortic dilatation. Accurate and early diagnosis helps ensure proper treatment. Some treatments can prevent symptoms from getting worse and ultimately save lives.

Each person’s experience with Marfan syndrome is barely different. No one person has all of the features, and other people have different combos of features. Some features of Marfan syndrome are easier to identify than others. These include:

• Long arms, legs and fingers
• Tall and slim body type
• Curved spine
• The chest sinks or protrudes
• Flexible joints
• Flat feet
• Clenched teeth
• Stretch marks on the skin that aren’t related to weight gain or loss

More difficult-to-detect symptoms of Marfan syndrome include heart problems, especially those involving the aorta. Other symptoms can include sudden lung collapse and eye problems, including severe nearsightedness, lens luxation, retinal detachment, early glaucoma, and early cataracts. Special tests are sometimes vital to detect these complications.

Getting a diagnosis and proper treatment, regular monitoring, and making lifestyle changes gives affected individuals one of the best likelihood of avoiding the intense complications of Marfan syndrome. However, there remains to be no guarantee that Emergency situations Problems can occur with the eyes, lungs, and – most seriously – the aorta.

Healthcare providers who’re conversant in the symptoms of Marfan syndrome and understand the seriousness of the situation can expedite imaging and other tests so people receive the care they need.

I would love to thank The Marfan Foundation for all their resources and support. For more information for healthcare providers and for patients and families, please contact Marfan Foundation.

Reference:

Philips, S. & Shulman, R. (2023, November 8). Measuring growth in children. https://www.uptodate.com/contents/children’s-growth-measurement