Marfan Syndrome : Causes-Symptoms-Diagnosis-Treatment
What Is Marfan Syndrome?
Marfan syndrome (additionally referred to as Marfan’s syndrome or Marfan syndrome) is a circumstance that impacts your connective tissue. Connective tissue holds your frame collectively and provides aid to many structures for the duration of your body.
In Marfan syndrome, the connective tissue isn’t ordinary. As a result, numerous frame structures are affected, together with your coronary heart and blood vessels, bones, tendons, cartilage, eyes, pores and skin and lungs.
Marfan syndrome is a disease that impacts the connective tissue in lots of parts of the body. Connective tissue affords power and flexibility to structures which include bones, ligaments, muscular tissues, blood vessels, and heart valves. The symptoms and symptoms of Marfan syndrome range extensively in severity, timing of onset, and charge of progression.
 |
| Marfan Syndrome |
Because connective tissue is located during the frame, Marfan syndrome can affect many systems, regularly causing abnormalities inside the coronary heart, blood vessels, eyes, bones, and joints. The two number one functions of Marfan syndrome are vision issues as a result of a dislocated lens (ectopia lentis) in one or both eyes and defects within the massive blood vessel that distributes blood from the coronary heart to the relaxation of the body (the aorta). The aorta can weaken and stretch, which may additionally lead to a bulge inside the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which could cause a sudden tearing of the layers inside the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening.
Many humans with Marfan syndrome have extra coronary heart troubles such as a leak within the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood glide from the coronary heart into the aorta (aortic valve regurgitation). Leaks in those valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or more beats (palpitations).
Individuals with Marfan syndrome are typically tall and slender, have elongated palms and toes (arachnodactyly), unfastened joints, and feature an arm span that exceeds their body top. Other common features include an extended and slim face, crowded enamel, an atypical curvature of the backbone (scoliosis or kyphosis), stretch marks (striae) now not related to weight benefit or loss, and both a sunken chest (pectus excavatum) or a sticking out chest (pectus carinatum). Some individuals expand an abnormal accumulation of air in the chest hollow space that may result in the crumble of a lung (spontaneous pneumothorax). A membrane known as the dura, which surrounds the mind and spinal cord, can be abnormally enlarged (dural ectasia) in human beings with Marfan syndrome. Dural ectasia can cause ache within the returned stomach, legs, or head. Most individuals with Marfan syndrome have a few degrees of nearsightedness (myopia). Clouding of the lens (cataract) may also occur in mid-maturity, and improved strain inside the eye (glaucoma) takes place more regularly in humans with Marfan syndrome than in those without the condition.
The functions of Marfan syndrome can grow to be apparent whenever among infancy and maturity. Depending on the onset and severity of signs and signs and symptoms, Marfan syndrome may be deadly early in existence; but, with proper treatment, many affected people have normal lifespans.
Medical terms
- Marfan syndrome is an inherited disease that influences connective tissue — the fibers that help and anchor your organs and different structures to your body. Marfan syndrome maximum normally impacts the heart, eyes, blood vessels and skeleton.
- People with Marfan syndrome are typically tall and skinny with surprisingly long arms, legs, fingers and feet. The damage as a result of Marfan syndrome may be moderate or intense. If your aorta — the big blood vessel that includes blood from your coronary heart to the relaxation of your frame — is affected, the circumstance can end up existence-threatening.
- Treatment commonly consists of medicinal drugs to maintain your blood pressure low to reduce the pressure to your aorta. Regular tracking to check for damage development is crucial. Many people with Marfan syndrome ultimately require preventive surgical operation to repair the aorta.
- Marfan syndrome is a genetic disorder that affects the connective tissues in your body Connective tissues are found in many places throughout the body including bones skin eyes heart and blood vessels In Marfan syndrome these tissues are weakened and stretchy (elastic) because of defects in a protein called fibrillin-1 Over time this defect can lead to serious health problems.
facts Marfan syndrome is a genetic disorder that affects the connective tissue in various parts of the body including the bones skin eyes heart and blood vessels Connective tissue is a type of tissue that holds cells together and gives shape to organs and other structures People with Marfan syndrome have unusually long arms legs fingers and toes In addition to skeletal changes Marfan syndrome can cause a range of heart defects and abnormalities in the lungs and eyes People with Marfan syndrome are also at risk for early-onset arthritis.
Typical characteristics of Marfan syndrome include:
being tall
abnormally long and slender limbs, fingers and toes (arachnodactyly)
heart defects
lens dislocation – where the lens of the eye falls into an abnormal position
Symptoms Marfan syndrome
Sometimes Marfan syndrome is so slight, that few, if any, symptoms are substantive right away. In maximum instances, symptoms come to be obtrusive as modifications in connective tissue take place as you age.
The signs and symptoms of Marfan syndrome can range significantly, even among members of the same family, because the disease can affect such a lot of one of a kind regions of the body. Some humans enjoy simplest moderate consequences, but others expand existence-threatening headaches.
Marfan syndrome functions may additionally encompass:
Tall and slender build
Disproportionately long arms, legs and fingers
A breastbone that protrudes outward or dips inward
A high, arched palate and crowded teeth
Heart murmurs
Extreme nearsightedness
An abnormally curved spine
Flat feet
When to see a doctor
If you suspect that you or your infant may have Marfan syndrome, communicate with your doctor or pediatrician. If your physician suspects a hassle, you'll in all likelihood be mentioned as an expert for a similar assessment.
Causes Marfan syndrome
A mutation or alternate in the fibrillin-1 (FBN1) gene causes Marfan syndrome. People with Marfan syndrome inherit one normal copy of the FBN1 gene and one ordinary replica of FBN1 from their mother and father. The atypical replica of the gene is more potent or “dominant” over the ordinary reproduction of the gene and causes Marfan syndrome. This is the dominant mode of inheritance. A person with a dominant mutation has a 50% chance (1 in 2) of passing on the disease to every of his or her youngsters.
Some youngsters are born with the syndrome, despite the fact that there's no circle of relatives with a history of the sickness, because of a brand new mutation within the FBN1 gene.
Marfan syndrome is because of a disorder inside the gene that permits your body to produce a protein that enables connective tissue its elasticity and power.
Most humans with Marfan syndrome inherit the extraordinary gene from a discern who has the sickness. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In approximately 25% of the people who have Marfan syndrome, the bizarre gene comes from neither determination. In those cases, a new mutation develops spontaneously.
Risk factors Marfan syndrome
Marfan syndrome influences males and females similarly and takes place among all races and ethnic groups. Because it's a genetic circumstance, the greatest risk factor for Marfan syndrome is having a determination with the ailment.
Marfan syndrome is as a result of a change inside the gene that controls how your frame makes fibrillin, a critical part of connective tissue that helps make it robust and elastic.
In most cases, Marfan syndrome is inherited from a discern. It takes place equally in men and women, who've a 50% risk of passing the gene to their children. In approximately 25% of human beings with the syndrome, the gene adjusts without a clean motive.
Complications Marfan Syndrome
Because Marfan syndrome can have an effect on nearly any part of your frame, it may motivate a huge sort of headache.
Cardiovascular complications
The maximum risky complications of Marfan syndrome contain the heart and blood vessels. Faulty connective tissue can weaken the aorta — the big artery that arises from the coronary heart and supplies blood to the body.
Aortic aneurysm. The strain of blood leaving your coronary heart can reason the wall of your aorta to bulge out, like a weak spot in a tire. In people who've Marfan syndrome, this is maximum probable to take place at the aortic root — where the artery leaves your coronary heart.
Aortic dissection. The wall of the aorta is made of layers. Dissection happens when a small tear inside the innermost layer of the aorta's wall allows blood to squeeze among the inner and outer layers of the wall. This can cause excessive pain inside the chest or lower back. An aortic dissection weakens the vessel's structure and may bring about a rupture, which can be fatal.
Valve malformations. People who've Marfan syndrome will have susceptible tissue in their heart valves. This can produce stretching of the valve tissue and extraordinary valve features. When coronary heart valves do not paint well, your coronary heart often has paintings more difficult to compensate for. This can sooner or later cause heart failure.
Eye complications
Eye complications may include:
Lens dislocation. The focusing lens within your eye can move out of location if its helping structures weaken. The medical term for this trouble is ectopia lentis, and it takes place in more than half of the people who've Marfan syndrome.
Retinal problems. Marfan syndrome also will increase the danger of a detachment or tear within the retina, the mild-touchy tissue that strains the lower back wall of your eye.
Early-onset glaucoma or cataracts. People who have Marfan syndrome generally tend to broaden these eye problems at a more youthful age. Glaucoma causes the strain inside the attention to increase, which may damage the optic nerve. Cataracts are cloudy areas in the eye's usually clean lens.
Skeletal complications
Marfan syndrome increases the risk of ordinary curves in the backbone, which includes scoliosis. It also can interfere with the everyday improvement of the ribs, which can cause the breastbone to either protrude or seem sunken into the chest. Foot pain and coffee returned pain are not unusual with Marfan syndrome.
Does Marfan syndrome get worse with age?
Marfan syndrome is a genetic disorder of the connective tissue that can affect people throughout their lives Connective tissues are found in every part of the body and support stabilize and protect the internal organs They give shape to organs like the heart lungs and eyes and provide elasticity to joints Marfan syndrome affects each person differently but it usually causes problems with connective tissue bones and blood vessels As you age your body tends to develop more health issues like osteoarthritis or cataracts However these conditions are not likely to occur because of Marfan syndrome In fact Marfan syndrome may lessen as you age due to changes in your connective tissue and other body systems.
How is Marfan syndrome prevented?
If you have Marfan syndrome, regular visits to a cardiologist are necessary. You will also need to take daily medications such as Profilnine (also called Antora) and continue a healthy lifestyle by eating a balanced diet and exercising regularly. Taking precautions to avoid injury is very important as well.
What treatments are available for Marfan syndrome and its symptoms?
Currently there is no cure for Marfan syndrome Treatment involves medications to manage symptoms and reduce the risk of complications For example beta blockers help control heart function ACE inhibitors reduce the workload on the heart diuretics promote urination by increasing fluid excretion in the kidneys and anticoagulants prevent blood clotting Surgery may be necessary to repair or replace a damaged vessel or organ Surgical treatment for Marfan syndrome is generally successful and can improve quality of life However patients who undergo surgery must be monitored closely for signs of recurrence if the disease process was not completely removed.
What does a person with Marfan syndrome look like?
People with Marfan syndrome tend to have tall thin bodies long arms and legs narrow shoulders and an elongated face People who have Marfan syndrome often have flexible joints and weak muscles which can lead to joint pain back pain and muscle strains Other features of the condition include low blood pressure vision problems heart valve issues an increased risk for aortic dissection and early onset osteoarthritis Unfortunately there is no cure for Marfan syndrome Treatment focuses on managing symptoms such as high blood pressure and controlling the rate at which the aorta enlarged.
How long is the average lifespan of a person with Marfan syndrome?
People with Marfan syndrome a genetic disorder of the connective tissue may live a normal lifespan But this depends on the severity of the syndrome The life expectancy for people with severe Marfan syndrome is significantly shortened For example a person with severe Marfan syndrome may have a shorter lifespan than an average person without the disorder.
How do I know if my baby has Marfan syndrome?
Marfan syndrome is a genetic disorder that can be passed down from one generation to the next The disease is found in families and each child of a person who has Marfan syndrome has a 50 percent chance of developing it The most common characteristic of Marfan syndrome is unusually long arms and legs Other symptoms include heart defects vision problems and other issues If you have any concerns about your child's health talk to his doctor.
Complications of pregnancy
Marfan syndrome can weaken the partitions of the aorta, the primary artery that leaves the heart. During being pregnant, the coronary heart pumps greater blood than ordinary. This can put greater stress at the aorta, which will increase the chance of a lethal dissection or rupture.
Diagnosis Marfan syndrome
Because Marfan syndrome can affect tissue throughout your frame, a group of healthcare vendors can be concerned in confirming the analysis and growing a remedy plan.
First, they’ll take your medical history, behavior, a physical exam to look for typical signs or findings related to Marfan, ask questions about the symptoms you’re experiencing, and gather records about a circle of relatives who might also have had health problems related to Marfan syndrome.
Marfan syndrome can be tough for docs to diagnose due to the fact many connective tissue issues have comparable signs and signs and symptoms. Even amongst participants of the identical own family, the symptoms and signs and symptoms of Marfan syndrome range extensively — each of their capabilities and of their severity.
Certain combos of symptoms and circles of relatives history should be given to confirm a diagnosis of Marfan syndrome. In some cases, someone may have a few capabilities of Marfan syndrome, but now not sufficient of them to be diagnosed with the disorder.
Heart tests
If your doctor suspects Marfan syndrome, one of the first tests he or she might also advocate is an echocardiogram. This check uses sound waves to seize actual-time pictures of your heart in motion. It checks the condition of your heart valves and the size of your aorta. Other coronary heart-imaging options consist of automated tomography (CT) scans and magnetic resonance imaging (MRI).
If you are recognized with Marfan syndrome, you will want to have ordinary imaging exams to display the dimensions and circumstance of your aorta.
Eye tests
Eye exams that may be needed include:
Slit-lamp exam. This test tests for lens dislocation, cataracts or an indifferent retina. Your eyes will want to be completely dilated with drops for this examination.
Eye pressure test. To check for glaucoma, your eye doctor might also measure the pressure inside your eyeball by way of touching it with a unique tool. Numbing eye drops are generally used before taking a look at.
Genetic testing
Genetic checking out is frequently used to confirm the analysis of Marfan syndrome. If a Marfan mutation is determined, a circle of relatives contributors may be examined to peer if they're additionally affected. You may additionally want to talk to a genetic counselor before starting a circle of relatives, to look what your probabilities are of passing on Marfan syndrome on your future children.
Treatment Marfan syndrome
There's no treatment for Marfan syndrome, so treatment specializes in handling the signs and symptoms and reducing the chance of headaches.
As Marfan syndrome impacts numerous one-of-a-kind components of the body, you may be treated by means of a crew of different healthcare specialists.
You'll be intently monitored and any complications can be dealt with if they occur.
A severe problem because of Marfan syndrome can arise if the heart and the aorta, the body's principal artery, are significantly affected. This can lead to a lower lifestyle expectancy.
While there's no therapy for Marfan syndrome, treatment focuses on stopping the various complications of the disorder. To accomplish this, you'll want to be checked regularly for symptoms that the harm due to the sickness is progressing.
In the past, people who had Marfan syndrome often died younger. With everyday monitoring and current remedy, most people with Marfan syndrome can now count on to stay an extra regular lifestyle span.
Medications
Doctors regularly prescribe blood stress reducing pills to help prevent the aorta from enlarging and to lessen the threat of dissection and rupture.
Therapy
The vision troubles associated with a dislocated lens in your eye regularly may be corrected with glasses or contact lenses.
Surgical and other procedures
Depending for your symptoms and signs and symptoms, methods may consist of:
Aortic repair. If your aorta's diameter reaches approximately 2 inches (50 millimeters) or if it enlarges rapidly, your health practitioner may additionally endorse an operation to replace a part of your aorta with a tube product of artificial cloth. This can assist in preventing a lifestyle-threatening rupture. Your aortic valve may also want to be replaced as well.
Scoliosis treatment. When there may be widespread scoliosis, a consultation with a backbone professional is necessary. Bracing and surgical operation are needed in a few cases.
Breastbone corrections. Surgical alternatives are available to accurately assess the arrival of a sunken or protruding breastbone. Because those operations are regularly taken into consideration to be for cosmetic functions, your coverage might not cover the costs.
Eye surgeries. If components of your retina have torn or come unfastened from the lower back of your eye, surgical restore is usually successful. If you've got cataracts, your clouded lens can be changed with an artificial lens.
Lifestyle and home remedies
You may additionally want to avoid competitive sports activities and certain leisure activities in case you're at expanded chance of aortic dissection or rupture. Increases in blood pressure, not unusual in activities such as weightlifting, surround extra pressure at the aorta. Less severe sports — consisting of brisk walking, bowling, doubles tennis or golfing — are commonly more secure.
Coping and support
Living with a genetic sickness may be extraordinarily hard for both adults and children. Adults may additionally marvel how the ailment will affect their careers, their relationships and their feel of themselves. And they will worry about passing the faulty gene to their kids.
But Marfan syndrome can be even tougher on younger human beings, especially due to the fact that the regularly-inherent self-awareness of formative years and formative years can be exacerbated through the disorder's impact on appearance, instructional overall performance and motor abilities.
Helping children cope
Working collectively, dad and mom, instructors and medical experts can offer youngsters with both emotional aid and sensible solutions for some of the extra distressing aspects of the ailment. For instance, kids with Marfan syndrome may also wear glasses in school because of vision issues that can be corrected with glasses or contact lenses.
For younger humans, beauty worries are at least as important as academic ones. Parents can help with the aid of waiting for those worries and providing answers, which include:
Contact lenses instead of glasses
A brace for scoliosis
Dental work for crowded teeth
Clothes that flatter a tall, thin frame
Support groups
People who've Marfan syndrome frequently find it beneficial to talk with others facing the same demanding situations. The Marfan Foundation offers a ramification of assist offerings online.
Preparing for your appointment
Marfan syndrome can have an effect on many unique elements of your body, so that you can also want to see an expansion of medical specialists, inclusive of:
A cardiologist, a doctor who specializes in heart and blood vessel disorders
An ophthalmologist, a doctor who specializes in eye disorders
An orthopedist, a doctor who specializes in structural problems of the skeleton
A geneticist, a doctor who specializes in genetic disorders
To make the high-quality use of appointment time, plan beforehand and have crucial facts available, consisting of:
Detailed descriptions of all your symptoms
Details of your past medical history, including any previous surgeries
Past X-rays and echocardiogram reports, which often can be sent electronically
A list of all your medications and supplements
What to expect from your doctor
All your docs will need to hear approximately your precise signs and symptoms, and whether or not all people in your family have had Marfan syndrome or experienced an early, unexplained heart-associated incapacity or loss of life.
General summary
- Marfan syndrome is a disorder of the connective tissue Connective tissue is the material that holds together all of the cells organs and parts of the body People with Marfan syndrome have an unusual characteristic in their bodies which is a defect in the connective tissues that produces unusually long bones and loose joints People with Marfan syndrome usually are tall and thin with long arms and legs flexible joints curved fingers and toes flat arches in the feet and eyes that may be too large for the face The heart is often enlarged or over-flexible There can also be problems with vision and hearing.
