Marfan Syndrome and Pectus Excavatum in 2022, Treatment, Risks & More

Evidence Based This post has medical citations
marfan patient with pectus excavatum

Scientific data proves that 70% of all patients with Marfan syndrome (MFS) have pectus excavatum. The severity of the dent in their chest can worsen with age.

This negatively affects patients, especially on a psychological level. In the text that follows, I will write about scientifically proven ways that are effective in repairing deformities in patients with Marfan syndrome.

WHAT IS MARFAN SYNDROME?

child with mfs and pectus excavatum

Marfan syndrome is a hereditary disease of the connective tissue. How intensely it affects the patients differs. It is shown that Marfan syndrome is created with a mutation in the Fibrillin 1 (FBN1).

This gene produces fibrillin (glycoprotein that helps the development of elastic fibers located in the connective tissue). The mutation leads to a connective tissue disorder. As of June 2022, there is still no known cure for Marfan syndrome.

However, with proper treatment, the life expectancy of these patients can be average. This means that Marfan syndrome patients must correct the pectus excavatum deformity for the patients to reach optimal health.

It is proven to lower the lifespan by about ten years if left untreated. The deformity will impair the functioning of the heart and lungs.

Adults and children with MFS should avoid competitively and contact sports. Also, they shouldn’t perform any heavy lifting exercises.

The extra high blood pressure and rapid heartbeat can hurt their aorta. Comparatively, light exercises performed in moderation will be suitable for these patients. They are shown to lower their blood pressure and heart rate.

PECTUS EXCAVATUM IS A MAJOR SYMPTOM OF MFS

pectus excavatum symptoms marfan syndrome

According to RareDiseases.com, the concave chest deformity is one of the few significant symptoms of Marfan syndrome.

The other signs include:

  • Excessive growth of the bones in the legs and arms.
  • Sideways curving of the spine (scoliosis). Usually, the curve pattern is in an “S” or “C” shape.
  • Eye lens displacement (ectopia lentis).
  • Nearsightedness (myopia). You can see things close to you, but the distant objects are blurry.
  • A weakening of the artery wall leads to abnormal expansion. This is also known as an aneurysm.
  • A tear in the main artery (aorta) carries blood away from the heart.
  • Mitral valve prolapse is a condition where the two valve flaps of the mitral valve don’t close regularly. Instead, they protrude up into the left atrium.
  • Backward blood flow through the aortic and mitral valves every time the left ventricle contracts (aortic and mitral regurgitation).

IS NUSS PROCEDURE SAFE FOR MARFAN PATIENTS?

Studies have shown that the Nuss procedure is safe for patients with Marfan syndrome. Generally, Marfan patients have a more severe deformity than those who don’t suffer from this disorder.

Because of that, they need two or more Nuss bars to be inserted underneath their breastbone for a successful correction. Investigations revealed that this increases infection rates.

Nevertheless, infections aren’t a significant concern. Scientists discovered that Marfan patients with pectus excavatum should postpone the surgery until their skeletal system development is finished. That is because the chest of the younger Marfan patients isn’t stable after the operation.

There is a high chance that the chest will fall back after the Nuss bars are removed. Research showed the Pectus bars removal surgery should be performed three years after the first surgery. The bar removal procedure will require no more than 20 minutes in most patients.

NON-SURGICAL CORRECTION FOR MARFAN

Isaiah Austin is a basketball player that has been diagnosed with Marfan syndrome. He was a 7’1 NBA Draft Prospect with a 7’5 wingspan. He is a classic example of a patient with MFS who managed to build a fantastic-looking, functional body, even with a connective tissue disorder.

The non-operative treatment of inverted chest for patients with Marfan syndrome is mainly based upon using the vacuum bell device and wearing posture corsets.

QUALITY OF LIFE OF MARFAN PATIENT WITH PECTUS EXCAVATUM

Suppose you have Marfan connective tissue syndrome and suffer from concave chest deformity. In that case, you must constantly self-improve and eliminate the common problems caused by this syndrome.

The biggest problem I regularly noticed in MFS Facebook groups was thinness and being underweight. Being underweight as a patient with genetic connective tissue disorder and pectus excavatum will further exaggerate your lack of physical strength and endurance.

This will be more evident while you’re working out in the gym. You won’t have any fat storage that is needed to release energy. There is no way you can build muscle this way. You need extra calories, fat, and protein if you want to bulk up and make the dent in your anterior chest wall less noticeable.

Also, you will do more harm than good if you’re trying to work out malnourished. You’ll feel lightheaded, dizzy, and can even faint. A drastic decrease in calorie intake and intense workouts will lead to starvation and illness.

In many cases, this can get to the point of being malnourished. This occurs when the Marfan patient doesn’t get the required nutrients. These patients consume insufficient amounts of food because of a lack of appetite.

According to MedicalNewsToday, this can lead to health issues, sicknesses, slow injury recovery times, increased risks of infections, and lack of focus.

CALCULATE BMI

I highly recommend you calculate your Body Mass Index (BMI). This is a value received from the height and weight of the individual. It tells whether you are malnourished, underweight, overweight, or whether you’re in a healthy weight range.

I stumbled upon a concerned mother who entered her daughter’s BMI suffering from Marfan syndrome into an online calculator. The message she received back was shocking. It said she needed to immediately bring her daughter to the emergency room because she was severely malnourished.

GAINING WEIGHT WITH MARFAN SYNDROME AND PECTUS EXCAVATUM

Most Marfan syndrome patients with pectus excavatum have trouble obtaining weight, particularly when they’re younger. Usually, they are underweight, tall, and thin, with long slender arms, legs, fingers, and toes.

If you add scoliosis and flexible joints to this mix, you’ll see an awkward-looking body that causes psychological discomfort. Because of this, gaining weight would be a fantastic way to make their bodies look more natural.

I stumbled upon a few Marfan patients with a concave chest complaining about not being able to gain weight. Regardless of how many proteins shakes and weight gainer supplements they consumed, they still couldn’t get their weight up.

They convinced me they ate a lot but still had trouble bulking. I advised them to track their daily calorie intake. After that, they noticed that they weren’t eating as much quality food as they thought. That was their biggest problem.

STAY AWAY FROM JUNK FOOD

The nutritionists and the Gastroenterologists usually advise Marfan patients with an inverted chest to eat anything they want. They say the extra calories will be beneficial in the weight gain process. However, this makes patients fall in love with junk food.

Salt and sugar become their best friend. On the opposite, greens and veggies become their biggest enemy. I would advise the Marfan syndrome patients with funnel chests not to eat junk food to gain weight. That’s a faster way to bulk up, but it will harm your health.

MARFAN PATIENTS GAIN WEIGHT IN THEIR STOMACH

Most Marfan patients accumulate a lot of weight in their stomachs. Eating junk food will only help you obtain mass in this area. However, some Marfan patients still can’t gain weight.

Doctors still don’t know the exact cause of this. The sunken chest is a lot more noticeable when you’re underweight.

HEAVY STRENGTH TRAINING IS NOT RECOMMENDED

Making pectus excavatum less visible by performing bodybuilding workouts with heavy weights is not recommended for MFS patients. I recommend a program where the sufferer will perform the compound exercises in the 20-30 rep range for two sets, with 2-minute rest between sets.

After a couple of months, the patient will see significant bodily improvements, particularly in the chest area, which will significantly improve the patient’s confidence. Some speculate that the undeveloped muscles of Marfan patients can be related to that.

WHAT IF DOCTORS CLEAR YOU FOR LIFTING

Suppose your doctor clears you to the gym and lifts weights. In that case, this diet will also promote muscle growth, making your bodily appearance more attractive. Nevertheless, in most cases, it is not recommended for Marfan patients to participate in bodybuilding and lifting heavy weights.

Sometimes, it can lead to aortic enlargement, a life-threatening problem that can shorten lifespan. See what Alan C. Braverman, an M.D., Professor of Medicine with a clinical interest in MFS, says about weightlifting.

TALK WITH A NUTRITIONIST OR DIETICIAN

To be safe, I recommend you talk to a nutritionist or dietician. Then, consult with a specialist to ensure the foods or supplements you consume don’t conflict with some medications you’re taking. Your health and well-being are much more important than a few pounds you can gain with a diet that may harm your health.

Suppose you want to learn more about proper nutrition and weight gain as a Marfan syndrome patient. In that case, I recommend you check this article by Hien Nguyen-Le, a nutrition therapist specializing in treating eating disorders for over 20 years.

NUSS PROCEDURE WILL LOWER THE WEIGHT

Weight gain will become more problematic when the Marfan patient undergoes a pectus excavatum operation. Even though the Nuss and Ravitch procedures are categorized as minimally invasive, the recovery process in Marfan patients is slower than in those without the syndrome.

As mentioned earlier, they need two or more Pectus bars inserted beneath their concave breastbone to correct the deformity successfully.

This makes the Nuss procedure very challenging to heal. Marfan patients with funnel breasts should expect to lose five pounds after the surgery. Years after that, they will have trouble gaining even a few pounds. Also, an additional surgical procedure is required to remove the Nuss bar from the patient’s chest.

Expect to lose a few pounds a couple of months after this secondary operation. If the Marfan patient must undergo a pectus excavatum surgery, please visit the nutritionist or Gastroenterologist a few times after. The doctor will calculate your BMI and tell you whether you need more nutrition or not.

HEART SURGERY & NUSS PROCEDURE DONE CONCURRENTLY IN MFS PATIENTS

There was a debate on whether the Nuss procedure and an open cardiac surgery should be performed concurrently in pectus excavatum patients with congenital MFS.

However, a recent 2020 research published in January proves that the single-stage procedure is safe and effective. There are seven significant advantages of the single-stage procedure in Marfan patients.

  • It doesn’t require extra surgery, resulting in excess blood loss.
  • Both surgeries are done with one general anesthesia, lowering the dangers of an additional anesthetic procedure.
  • Decreased number of surgical injuries and postoperative aches.
  • Reduced costs because there will be only one hospitalization instead of two.
  • Instant blood flow and respiratory system improvement resulted from internal organ decompression after lifting the sternum.
  • Lowered amount of opioid medication intake.
  • Instant cosmetic improvement will improve the Marfan patient’s mental and emotional well-being.

CONCLUSION

If you suffer from Marfan syndrome and pectus excavatum, or you are a parent of a kid that experiences this, it is very important to be knowledgeable about the subject.

In this article, I covered everything you need to know about the effectiveness of the Nuss procedure on Marfan patients, how to gain weight, improve the quality of life, and much more.

Even though everything in the article is backed up by science, it is critically important to visit the doctor. You can discuss the syndrome with the doctor and determine whether the anterior chest wall dent is severe enough to be fixed with surgery.

The information I’ve written in this article is not a substitute for professional medical advice, examination, or therapy. The MFS causes cardiovascular complications involving the heart and blood vessels.

If you add a severe pectus excavatum in the mix, you’ll also get respiratory and cardiac problems, drastically decreasing the patient’s stamina and exercising capacities.

Please seek medical treatment if you’re having a few of the Marfan symptoms I mentioned above in the article.

FREE PECTUS EXCAVATUM E-BOOK IN YOUR INBOX

Learn everything you need to know about the pectus excavatum deformity from A-Z. See how I managed to improve my pectus excavatum deformity non-surgically.

Sign up and discover how you can improve your physical and mental wellbeing once and for all.