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Everything You Need to Know About Marfan Syndrome

About Marfan Syndrome

Marfan Syndrome - (Image Credit: Shutterstock)

30-Second-Summary
  • Marfan syndrome is a condition that affects body growth. The connective tissue disorder, which is sometimes referred to as the Beals Hecht syndrome is a result of a change in the FBN1 – fibrillin-1 gene.
  • Studies show that most Marfan syndrome cases are inherited. When one parent experiences a change on FBN1, one of the kids is sure to have it – autosomal dominant transmission.
  • Some of the most famous Marfan syndrome symptoms include loose joints, vision problems, cardiovascular issues, and an unusually tall and slender structure.
  • There is no cure for Marfan syndrome, but beta-blockers like propanol for heart issues, orthopedic braces for skeletal complications, and eye surgery have been shown to help manage some of the symptoms.

Introduction

Even if it might sound like a condition off the surface of Narnia, studies show Marfan syndrome is more common than you would think. While it came to light thanks to celebrities like Michael Phelps, Marfan, or Beals Hecht syndrome is recognized as a genetic condition that affects two out of 10,000 persons worldwide. Individuals with the condition are usually tall and slender with unusually long arms, loose joints, and eyesight issues.

The most severe complications of Marfan syndrome involve the heart and spine, but with regular checkups and a positive attitude, one can lead a healthy life.

If you want to know more about the genetic disorder, here is a compressive guide on the causes of Marfan syndrome, the symptoms, and some of the famous Marfan syndrome sufferers.

What Is Marfan Syndrome?

Marfan syndrome is a connective tissue disorder that affects physical growth. Connective tissue may offer support to skeletal muscles and every other organ in your body. It is also known as Beals Hecht syndrome or Marfan’s syndrome. The connective tissue condition is a result of changes in the FBN1 (fibrillin-1) gene. However, it is not always a result of genetic issues.

Any condition that affects connective tissue can affects other parts of the body, including blood vessels, bones, eyes, heart, muscles, and other organs. Individuals with the condition experience symptoms like problems with their vision, loose joints, skeletal issues, and are unusually tall and slender.

Marfan syndrome symptoms range from mild to severe, and when it appears, how quickly it progresses also varies from one individual to another. Some individuals develop the condition as kids, while others do not notice any issues until they get older.

The condition can be life-threatening when it affects cardiovascular and skeletal tissues, but by taking certain precautions and with treatment, many people can enjoy a full lifespan. Globally, the condition affects one in 5,000 persons[1].

What Are The Causes Of Marfan Syndrome?

Marfan or Beals Hecht syndrome is a result of defects in the gene that encodes the structure of the elastic fibers and fibrillin, a significant component of the connective tissues. The gene is known as fibrillin-1 or FBN1. Most cases of Marfan syndrome are inherited.

The pattern is referred to as the autosomal dominant[2], meaning it happens equally in men and women and can be inherited from a parent with the condition. Individuals with the syndrome have a 50% chance of passing it along to one of their offspring.

In another 25%, a new gene defect happens due to unknown causes. In these cases, the condition is triggered by changes in either the sperm or the egg. That is why many experts refer to Marfan as a variable expression genetic disorder because not everyone with Beals Hecht syndrome acquires it from gene mutations, and not everyone has similar symptoms.

What Are The Symptoms Of Marfan Syndrome?

Symptoms Of Marfan Syndrome
Marfan syndrome symptoms might appear in infancy and early childhood, and at times in adulthood. Some individuals with the FBN1 change might never develop any symptoms. Some might also develop mild symptoms, while others might get the worst of it. They often progress or become worse with age.

Here are some of the most famous Marfan syndrome symptoms:

1. Physical Changes

Individuals with the famous Marfan syndrome tend to be unusually tall and slender. Their arms, fingers, legs, and toes might seem out of proportion, too long and slender for the rest of their body. Their spine might be curved, and their chest either stuck out or indented. They tend to have loose and flexible joints, a long, narrow face, and fingers that cannot straighten out.

2. Cardiovascular Issues

Almost 90% of people with Marfan syndrome experience cardiovascular issues. Your aorta, the largest blood vessel that ensures steady blood circulation from the heart, can weaken and stretch. That can then trigger:

  • A leak from the aorta.

  • An aortic aneurysm is a bulge in the aorta.
  • Leaking valves in the heart.
  • A tear in the aorta, known as aortic dissection[3], happens suddenly.
  • Congestive heart failure.

Some of the symptoms might be life-threatening. Signs of cardiovascular issues with Marfan might include:

  • Palpitations
  • Fatigue
  • Chest pains
  • Breathlessness

3. Skeletal Complications

Marfan syndrome boosts the chances of developing abnormal curves in the spine, scoliosis. It interrupts the normal development of the ribs, which causes the breastbone to appear sunken into the chest. Other people develop dural ectasia[4], the enlargement and weakening of the dura, a membrane that surrounds the brain and spinal cord. When the dura expands, it puts pressure on the lower back leading to:

  • Abdominal pain
  • Back pain
  • Headaches
  • Leg pain
  • Numbness in the legs

4. Eye Problems

More than five in ten[5] individuals with the syndrome experience eyesight issues, including short-sightedness, lens subluxations, or have partial lens dislocation in one or both eyes. Others experience glaucoma, cataracts, and an unusually flat cornea. Those with the condition should seek treatment for eye issues as it may lead to complete vision loss.

Eye Problems

5. Bone & Dental Issues

Individuals with Marfan syndrome might have a dental history of tooth extractions. They might also have unusually small jaws, a high arch on the roof of their mouths, and crooked teeth. They might also have a history of bone issues like large, flat feet, long limbs, hernias, bone dislocations, and loose joints.

Other famous Marfan syndrome symptoms include:

  • Stretch marks are not related to weight changes, especially on the hips, lower back, and shoulders.
  • Low muscle tone.
  • Little fat under the skin.

The Most Famous People Dealing With Marfan Syndrome

Most individuals with Marfan syndrome eventually need preventative surgery to repair heart issues.

Below are some famous people with the condition, including Michael Phelps Marfan syndrome:

1. Abraham Lincoln

One of the most loved American presidents (the 16th), Abraham Lincoln’s lean stature coupled with his long face is a figure that is not hard to notice. Couple that with his thin, long nose and not-so-wide chest, and you will have the famous Marfan syndrome.

But although the aforementioned symptoms indicate signs of Marfan and his descendants have been rumored to struggle with the disorder, there has not been enough evidence to support the claims.

2. Sergei Rachmaninov

The music composer had otherworldly hands. His extraordinarily long fingers had an association with the console in a way that captivated his audience. Some even say his long fingers were made him one of the best music composers of the 19th-20th Century.

Rachmaninov was also tall and slender with a small head and long nose, which was an indication of the famous Marfan syndrome.

However, later in life, arthritis and back pain proved to be a significant hindrance in his career. Alongside being a great pianist, Rachmaninov was also a quintessential writer, performer, and conductor.

3. Michael Phelps

The incredible Olympic gold medalist is arguably one of the most popular people with Marfan, even though he has continually denied it. Many people refer to the condition as the Michael Phelps Marfan syndrome.

Arguably, the world’s best swimmer, Phelps stands at a formidable 6’4” and has a more imposing arm span of 6’7”. His knees are also hyper-mobile, double-jointed. Due to these signs and symptoms, the holder of the 39-world records has been under scrutiny by experts from the John Hopkins hospital for quite some time now.

4. John Taverner

Another individual with the Michael Phelps Marfan syndrome symptoms is John Taverner. He is a famous British classical music composer. He was diagnosed after spending 46 years struggling with it. The condition was rooted in his family, as most of his cousins were struggling with the disorder. His brother and daughters were among these sufferers.

He has publicly spoken about Marfan and how it has continuously affected him, including an aortic root development he had in1991.

One incredible aspect about John Taverner was that he had a positive attitude towards life and believed in the public awareness of Marfan syndrome.

5. Bradford Cox

The famous actor, singer, songwriter, and guitarist was a member of the rock band Deerhunter. At the age of 10 to 12, Bradford started to notice symptoms of famous Marfan syndrome.

Due to Marfan and the resulting awkwardness throughout his teenage years, Bradford made few friends, and music was his only refuge. In the face of all the issues, Co only became one of the best musicians of the century, but he also landed a role in the widely acclaimed movie Dallas Buyers Clubs.

6. Flo Hyman

Nicknamed Flo, the outstanding athlete, was an Olympic silver medalist and renowned volleyball player for the US. As a tween, Flo developed rapid bone and tissue growth in various parts of her body, which made her self-conscious. However, her mother encouraged her to use these adversities to her advantage. She stood 6’5” tall and had loose joints. On the 24th of January 1986, Flo Hyman died at the young age of 31 after collapsing during a game in Japan. When the autopsy was done, it was ascertained that she was struggling with the Michael Phelps Marfan syndrome, which triggered an aortic dissection.

7. Jonathan Larson

Larson was a playwright who died in 1996 due to an aortic dissection caused by the Marfan syndrome. His condition was diagnosed, at a later stage, making him a classic case of undetected Marfan. He kept complaining about chest pains, but no one thought it could be Marfan syndrome. During Princess Diana’s funeral, Jonathan’s cello piece ‘Song of Athene’ was played. He also received three Tony awards and a Pulitzer for his rock opera. He was also one of the best music composers, but he became famous after his death.

8. Tutankhamun

As shocking as it might seem, the list includes the Egyptian Pharaoh King Tut, who purportedly suffered from the famous Marfan syndrome. His premature death, at the tender age of 19, ignited historians’ speculations of Marfan. Long periods of exploration, CT scans, and DNA tests of his mummy showed that he indeed was a victim of the Marfan syndrome. Tut has a curved spine and unusually tall and slender stature, and his parents believed him to possess similar traits.

9. Julius Caesar

If you are an Asterix comics enthusiast, you know how Caesar has been depicted in the flesh. The world’s greatest ruler and dictator supposedly had long skinny fingers and flexible joints, which was attributed to the Marfan syndrome.

However, that did not stop him from becoming a famous dictator – empires bowed down and submitted to his might despite his frailties and epileptic spasms. And surprisingly, Julius Caesar fell victim to death at the hands of his loyal aide and not to Marfan symptoms.

10. Vincent Schiavelli

Although many might not know him, Vincent Schiavelli’s character in “One Flew Over the Cuckoo’s Nest” was remembered. However, among the list of people with Michael Phelps Marfan syndrome, Vincent was among the first. The condition was responsible for his premature death. He succumbed to the condition through lung collapse. The Italian actor was even a member of the National Marfan Foundation, which helped individuals cope with the condition, as well as spread awareness regarding the disorder.

The Bottom Line

Marfan syndrome is a connective tissue disorder that affects the skin, heart, blood vessels, bones, and other crucial body orgasms. Some individuals with the condition might experience unusual physical features, including loose joints and unusually tall and slender stature. It also causes a higher risk of eyesight issues, cardiovascular problems, and skeletal complications. Moreover, it is not possible to cure the condition, as evidenced by Michael Phelps Marfan syndrome and other celebrities, but taking specific preventative measures and treatments may dramatically help enhance the quality of an individual’s life if they have the condition.

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