What is Marfan Syndrome: An Insight into Symptoms, Causes, and Treatment
By Dr. Ashish Bajaj +2 more
Medically reviewed by Dr. Ashish Bajaj
Last updated: Apr 18, 2024Click to rate this article!
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By Dr. Ashish Bajaj +2 more
Medically reviewed by Dr. Ashish Bajaj
Last updated: Apr 18, 2024Table of Contents
Marfan Syndrome is a complex condition that can affect multiple body systems. In the following sections, we will discuss in detail what Marfan Syndrome is, explore its causes, delve into its various symptoms, and illuminate on the available treatment and management options. As the intricacies of this condition unfold, prepare to enhance your understanding of Marfan Syndrome and how it can impact the lives of those affected by it.
In my experience, the majority of those who have Marfan syndrome are able to engage in some kind of leisure or physical activity. You should probably stay away from contact sports, high-intensity team sports, and isometric activities (like weightlifting) if you has an enlarged aorta. You can get an echocardiogram to check for the same.
Dr. Siddharth Gupta, MD
A genetic disorder, Marfan Syndrome, affects the body’s connective tissues. Most notably, it impacts the cardiovascular, skeletal, ocular, and pulmonary systems. Let’s discuss this syndrome, its commonness, and the genetics behind it, shall we?
So, Marfan Syndrome results from a change in the FBN1 (fibrillin-1) gene. This change messes up the formation and function of connective tissue. Connective tissue supports various organs and structures in the body. With a rate of about 1 in every 5,000 people, anyone can get it, regardless of race, ethnicity, or gender.
Due to medical advancements, some individuals with Marfan syndrome are now able to live until the age of 72!
Dr. Rajeev Singh, BAMS
Marfan Syndrome is often passed down the family tree, with a child having a 50% chance to get it. However, in about a quarter of cases, new mutations occur without any family history. That’s called a sporadic case. Even though the direct cause is the genetic mutation, the severity of the syndrome changes greatly from one person to another.
Marfan Syndrome can cause many different symptoms because it affects the connective tissue in the body. The signs and symptoms of Marfan syndrome can vary greatly, even among members of the same family, because the disorder can affect so many different areas of the body. Some people experience only mild effects, but others develop life-threatening complications.
Studies have revealed that a leak in the valve that separates two of the heart’s four chambers (mitral valve prolapse) or the valve that controls blood flow from the heart into the aorta (aortic valve regurgitation) are among the several cardiac issues that many individuals with Marfan syndrome experience. Breathlessness, exhaustion, and palpitations—an irregular pulse that feels like extra or skipped beats—can all be symptoms of leaks in these valves. Early diagnosis can help with timely treatment and prevent fatal complications.
Dr. Smita barode, BAMS
Now, Marfan Syndrome often shows various abnormalities in the bones, such as:
People with this condition might have very long fingers, stretching beyond the edge of their hands when making a fist.
Longer arms and legs are also common, sometimes with an arm span longer than the person’s height.
Another symptom could be scoliosis, causing a bent spine that can result in pain and difficulty breathing.
Heart-related issues can be some of the most risky effects of Marfan Syndrome.
The first worry is the aorta, the big blood vessel taking blood from the heart, getting weak and stretched. This may lead to an aortic aneurysm and, if it gets worse, an aortic dissection. An aortic dissection is a tear inside the aortic wall – and it’s a big health threat.
Another risk lies in the weakening of the heart valves. This could cause regurgitation or not closing enough or may cause heart murmurs If this is not treated, it can lead to heart failure.
Marfan Syndrome could also cause issues with the eyes, such as:
The lens in the eye, supported by other parts, may move out of place due to weak tissue. This can happen in over half the people with Marfan Syndrome. This is called ectopia lentis.
The retina, or the light-sensing part in the back of the eye, could tear or detach. This may mess up the vision or even cause vision loss if left untreated.
It’s critical to recognise the symptoms of Marfan syndrome in order to prevent and treat severe, perhaps fatal consequences. Certain individuals with Marfan syndrome may not exhibit any symptoms until much later in childhood or maturity.
Dr. Anuja Bodhare, MD
Marfan Syndrome can also affect the chest and lungs, causing:
Abnormal growth of the ribs may cause chest deformities such as a sticking-out or sunken breastbone.
In some situations, air might build up near the top of the lungs. This can lead to a collapsed lung, which we call spontaneous pneumothorax.
A high, arched palate and crowded teeth are commonly seen in patients with Marfan’s syndrome.
In my experience, the majority of those who have Marfan syndrome are able to engage in some kind of leisure or physical activity. You should probably stay away from contact sports, high-intensity team sports, and isometric activities (like weightlifting) if you has an enlarged aorta. You can get an echocardiogram to check for the same.
Dr. Siddharth Gupta, B.A.M.S, M.D
The main cause of Marfan Syndrome is a change in the FBN1 gene. Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide. But there are factors that may influence how bad it is or if you’ll get it from your parents.
The cause of Marfan Syndrome is changes in the FBN1 gene. This gene makes fibrillin, a protein needed for normal connective tissue. Not enough fibrillin weakens connective tissue, causing the different symptoms of the syndrome.
Even though Marfan Syndrome is often inherited, sometimes new mutations happen without any family history. This is the case in about a quarter of all cases, and we haven’t found out why these spontaneous mutations occur.
Our genes play a big role in this disorder. The biggest risk of getting Marfan Syndrome is if your parent has the gene change causing it. Each child of a parent with this changed gene may get it with a 50% chance.
Being pregnant could increase the risk of severe heart complications in those with Marfan Syndrome and an enlarged aorta. This is why medical check-ups are very important during pregnancy.
Due to medical advancements, some individuals with Marfan syndrome are now able to live until the age of 72!
Dr. Rajeev Singh, BAMS
There’s not a single confirmatory test for Marfan Syndrome, but the way to diagnose it usually involves a physical check-up, genetic testing, and medical imaging.
A doctor will check things that could tell them if you might have Marfan Syndrome, like being very tall, having long limbs and fingers, and any bone abnormalities.
Tests could be done on the FBN1 gene, but these tests often can’t say for sure if you have the syndrome.
Several imaging techniques such as echocardiograms, X-rays, and CT scans can be used to watch the heart valves, the aorta, and the skeleton for any abnormalities.
Eye exams that may be needed include:
Slit-lamp exam: This test checks for lens dislocation, cataracts or a detached retina. Your eyes will need to be completely dilated with drops for this exam.
Eye pressure test: To check for glaucoma, your eye doctor may measure the pressure inside your eyeball by touching it with a special tool. Numbing eyedrops are usually used before this test.
Genetic testing is often used to confirm the diagnosis of Marfan syndrome. If a Marfan mutation is found, family members can be tested to see if they are also affected. You may want to talk to a genetic counselor before starting a family, to see what your chances are of passing on Marfan syndrome to your future children.
Studies have revealed that a leak in the valve that separates two of the heart’s four chambers (mitral valve prolapse) or the valve that controls blood flow from the heart into the aorta (aortic valve regurgitation) are among the several cardiac issues that many individuals with Marfan syndrome experience. Breathlessness, exhaustion, and palpitations—an irregular pulse that feels like extra or skipped beats—can all be symptoms of leaks in these valves. Early diagnosis can help with timely treatment and prevent fatal complications.
Dr. Smita barode, B.A.M.S, M.S.
Even though we can’t cure Marfan Syndrome, multiple treatments and lifestyle changes can help control symptoms and avoid complications.
Your doctor may prescribe beta-blockers or ACE inhibitors. These help control blood pressure and heart rate, which reduces stress on the aorta. It also lessens the risk of further complications.
In some cases, surgeries like aortic root replacement or heart valve repair or replacement may be needed to fix heart issues.
Orthotics, braces, or surgeries to fix scoliosis or chest deformities can help manage bone problems.
Eyeglasses or surgeries to replace the lens may be needed to help you see well and to keep watch for retinal detachment.
Regular doctor visits, avoiding high-impact activities, and sticking to diets and exercise can help manage Marfan Syndrome and its related complications. Less intense activities — such as brisk walking, bowling, doubles tennis or golf — are generally safer.
It’s critical to recognise the symptoms of Marfan syndrome in order to prevent and treat severe, perhaps fatal consequences. Certain individuals with Marfan syndrome may not exhibit any symptoms until much later in childhood or maturity.
Dr. Anuja Bodhare, B.A.M.S, M.D
To sum up, Marfan Syndrome is a genetic disorder that greatly affects those who have it. It may impact many body systems, with symptoms from mild to severe. Even though there’s no cure, managing the syndrome, getting treatment, and changing your lifestyle can vastly improve the quality of life for those living with Marfan Syndrome. It’s very important to diagnose and start treatment early to manage this disorder and keep it from causing life-threatening complications.
With the right management and treatment, most people with Marfan Syndrome can live a full life, often living into their 70s or beyond.
While risky activities and contact sports may have to be skipped, those with Marfan Syndrome can still do lower-impact exercises and sports, with guidance from their healthcare provider.
Marfan Syndrome is passed down in an autosomal dominant pattern. This means there may be a 50% chance of a child getting the gene change from an affected parent.
Yes, the symptoms of Marfan Syndrome can range from mild to severe, with some people only seeing minor signs and mild impacts on their daily lives.
Yes, groups such as The Marfan Foundation give support, resources, and facts to those with Marfan Syndrome and their families.
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