Symptoms
What are the signs of Marfan syndrome? Sometimes Marfan syndrome is so mild, few if any, symptoms occur. In most cases, the disease progresses with age and symptoms of Marfan syndrome become noticeable as changes in connective tissue occur. Physical Appearance. People with Marfan syndrome are often very tall and thin.
Causes
How may Marfan syndrome affect your health?
- Dental problems may include gum issues or a jawbone that becomes unhinged from the skull.
- Dural ectasia can occur when the connective tissue that wraps around and protects your spinal cord and brain stretches and weakens. ...
- Eye problems, such as a retina detaching, can affect your eyesight. ...
Complications
- Structural complications such as spine curve could result to scoliosis
- Foot pain or lower back pain might increase with marfan syndrome
- There is also a risk of artery leaving the walls of aorta which can cause problems in pregnancy
What are the signs and symptoms of Marfan syndrome?
Marfan syndrome is a genetic disorder that changes the proteins that help make healthy connective tissue. This leads to problems with the development of connective tissue, which supports the bones, muscles, organs, and tissues in your body.
What are the health risks of the Marfan syndrome?
What makes Marfan syndrome a disorder?
What does Marfan syndrome do to the body?
What causes aortic valve to leak?
Aortic root dilation: The aortic root is the area where the aorta meets the aortic valve. With Marfan syndrome, the aortic root may dilate or widen. This can cause the aortic valve to become stretched and leak. Arrhythmia (abnormal heart rhythm): May occur in some patients with Marfan syndrome.
How big is the aorta for surgery?
When the aorta diameter is more than 4.7 cm (centimeters) to 5.0 cm (depending on your height), or if the aorta is enlarging at a rapid pace, surgery is recommended. Your cardiologist may also calculate your aortic root diameter to height ratio, since this may also influence whether you should have surgery. If you are contemplating a pregnancy then that would also affect the recommendations for surgery.
What happens to the blood vessels in Marfan syndrome?
Blood vessel changes: With Marfan syndrome, the walls of the blood vessels become weak and dilate (stretch). These blood vessel changes often affect the aorta, the major artery that carries blood from the heart to the rest of the body.
What is the condition called when the connective tissue is damaged?
Marfan syndrome (also called Marfan’s syndrome or Marfans syndrome) is a condition that affects the connective tissue. Connective tissue holds the body together and provides support to many structures throughout the body. In Marfan syndrome , the connective tissue isn’t normal. As a result, many body systems are affected, including the heart, blood vessels, bones, tendons, cartilage, eyes, nervous system, skin and lungs.
How does Marfan syndrome work?
Some people may not require any treatment, just regular follow-up appointments with their doctor . Others may need medications or surgery . The approach depends on the structures affected and the severity of the condition.
What percentage of Marfan syndrome is genetic?
In 25 percent of cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred to as a “variable expression” genetic disorder, because not everyone with Marfan syndrome has the same symptoms to the same degree.
Why do people with Marfan syndrome have a narrow face?
Often, people with Marfan syndrome have a long, narrow face and the roof of the mouth may be higher than normal, causing the teeth to be crowded. Marfan syndrome causes many changes to occur within the body structures, including dental and skeletal (bone) problems.
What is Marfan syndrome?
Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage. Some complications of Marfan syndrome can be treated or prevented, including heart disease, bone deformities such as a curved spine, eye conditions, crooked teeth, and collapsed lungs.
How is Marfan syndrome diagnosed?
Recognizing the signs of Marfan syndrome is important for prevention and treatment of serious and even life-threatening complications. People with Marfan syndrome are often tall and thin, with very long arms, legs, fingers, and toes. People who might have Marfan syndrome should be evaluated to help reduce the risk of potential heart problems. It isn’t always easy to diagnose Marfan syndrome because it affects everyone a little differently. Some people with Marfan syndrome don’t show signs of it until later in childhood or in adulthood.
How many people have Marfan syndrome?
The mutation limits the body’s ability to make proteins needed to build connective tissue. 1, One in four people with Marfan syndrome develops the condition for unknown reasons. 1 A person with Marfan syndrome has a 1 in 2 chance of passing it on to their child. 1.
What is the main artery that takes blood away from the heart?
Some complications of Marfan syndrome can be very serious, like an aneurysm (bulge) of the aorta, the main artery that takes blood away from the heart. Some complications of Marfan syndrome can be very serious, like an aneurysm (bulge) of the aorta, the main artery that takes blood away from the heart.
How to treat an aortic aneurysm?
An aortic aneurysm may be treated with medicine or medicine plus surgery. Medicine is used to lower blood pressure to help prevent an aneurysm from rupturing and causing a dissection of the aorta. 2. Severe scoliosis and breastbone problems may require surgery. Eye conditions may also require surgery.
What causes blurred vision?
Eye conditions that can lead to blurred vision or loss of sight, such as a retinal detachment (where the retina—the part of the eye that senses light in the back of the eye—peels away from its supporting tissue) or dislocation of the lens (where the lens shifts out of place)
Does Marfan syndrome cause heart problems?
Not everyone with Marfan syndrome has all of the complications. People with Marfan syndrome must be closely followed by their doctor to watch for the following complications: Heart disease, including aortic aneurysms and problems with heart valves.
What is Marfan syndrome?
Marfan syndrome is a genetic disorder that affects the body’s ability to make healthy connective tissue, which supports the bones, muscles, organs, and tissues in your body . The condition can affect different areas of the body, including:
How to know if you have Marfan?
Points To Remember About Marfan Syndrome 1 Marfan syndrome is a genetic disorder that leads to problems with the development of connective tissue in the body. 2 Changes to a specific gene cause Marfan syndrome, and most people inherit the disorder from their parents. 3 Treatment depends on the area of the body affected and may include medications, other treatments, and surgery to manage the condition and its complications. 4 You can do several things to manage the disorder, such as see your doctors regularly; reach out for support from loved ones, other people with the disorder, and mental health professionals; eat a healthy, well-balanced diet; and avoid smoking.
What are the different types of dental providers?
Dental providers, such as orthodontists and oral-maxillofacial surgeons. Dermatologists, who specialize in conditions of the skin, hair, and nails. Mental health professionals, who provide counseling and treat mental health disorders, such as depression and anxiety.
What is the role of a physical therapist?
Pediatricians, who diagnose and treat children. Physical therapists, who teach ways to build muscle strength. Primary care doctors, such as family physicians or internal medicine specialists, who coordinate care between the different health providers and treat other problems as they arise.
What is a cardiology?
Cardiologists, who treat issues with the heart.
What is a nurse educator?
Nurse educators, who help you understand your condition and help start treatment plans.
What is the purpose of meds for heart disease?
Medications to help manage pain and problems with your heart.
What is Marfan syndrome?
Marfan syndrome. Part 1: pathophysiology and diagnosis. Marfan syndrome is a connective-tissue disease in herited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1. This gene encodes fibrillin-1, a glycoprotein that is the main constituent of the microfibrils of the extracellular matrix.
What happens when you have a mutation in fibrillin-1?
Reduced or abnormal fibrillin-1 leads to tissue weakness, increased transforming growth factor beta signaling, loss of cell-matrix interactions, and, finally, to the different phenotypic manifestations of Marfan syndrome.
How is Marfan Syndrome Managed?
People with Marfan syndrome are born with it, but features of the condition are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time.
How does Marfan affect the body?
Marfan syndrome and related conditions affect the body’s connective tissue. Connective tissue holds the body together and plays a role in its growth and development. Because connective tissue is found throughout the body, Marfan syndrome and related disorders can affect many parts of the body, including the heart and blood vessels, bones and joints, eyes, skin, and lungs.
What is Marfan syndrome?
Marfan syndrome is a genetic condition that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.
What is it called when the aorta is enlarged and the valves cannot come together?
Aortic regurgitation is when the aortic valve does not fully close and blood leaks back into the heart. This often happens when the aorta is enlarged and the valves cannot fully come together. The only symptoms a person may have are forceful heartbeats and shortness of breath during light activity.
How many people have Marfan syndrome?
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.
What is it called when you tear your aortic wall?
A tear or rupture between layers of the aortic wall is called an aortic dissection. When this happens, people experience severe pain in the center of their chest, stomach, or back. They may describe the pain as “sharp,” “tearing” or “ripping.” The location of the pain may change. Sometimes, the pain is less severe, but people still have the feeling that “something is very wrong.” If a dissection is suspected, a person needs immediate medical attention and should go to a hospital emergency department right away.
What is the mitral valve?
Mitral valve prolapsed is a condition in which the flaps of one of the heart’s valves (the mitral valve, which regulates blood flow on the left side of the heart) are “floppy” and don’t close tightly. Symptoms can include irregular or rapid heartbeats and shortness of breath. Some people also have leaking of the mitral valve. A small amount of leaking is usually not a problem, but a person may need surgery if the mitral valve leaks a lot.
What Is Marfan Syndrome?
What Causes Marfan Syndrome?
How Is Marfan Syndrome Diagnosed?
How Is Marfan Syndrome Treated?
Additional Resources
- Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage. Some complications of Marfan syndrome can be treated or prevented, including heart disease, bone deformit...
References
- Marfan syndrome is rare, happening in about 1 in 5,000 people.1 Marfan syndrome is caused by a mutation in a gene called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue.1, One in four people with Marfan syndrome develops the condition for unknown reasons.1 A person with Marfan syndrome has a 1 in 2 chance of passing it on to their …