This syndrome is caused by mutations in the gene that codes for a protein called fibrillin.
Typical symptoms can range from mild to severe and include long arms and fingers, flexible joints, and heart and lung problems.
The diagnosis is based on symptoms and family history.
Most people with this syndrome live into their 70s.
There is no cure for Marfan syndrome or any way to correct the abnormalities in the connective tissue.
(See also Overview of Hereditary Connective Tissue Disorders Overview of Connective Tissue Disorders in Children Connective tissue is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity. Muscles, bones, cartilage, ligaments, and tendons are built... read more .)
Marfan syndrome is caused by mutations in the gene that codes for a protein called fibrillin. Fibrillin helps connective tissue maintain its strength (connective tissue is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity). If the fibrillin gene is mutated, some fibers and other parts of connective tissue (the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity) undergo changes that ultimately weaken the tissue. The weakening affects bones and joints as well as internal structures, such as the heart, blood vessels, eyes, lungs, and central nervous system (the brain and spinal cord). Weakened tissues stretch, distort, and can even tear. For example, the aorta (the main artery of the body) may weaken, bulge, or tear. Weak tissues in a heart valve can cause the valve to leak. Connective tissues that join structures may weaken or break, separating formerly attached structures. For example, the eye’s lens or retina may separate from its normal attachments.
Symptoms of Marfan Syndrome
Symptoms of Marfan syndrome can range from mild to severe. Many people with Marfan syndrome never notice symptoms. In some people, symptoms may not become apparent until adulthood.
People with Marfan syndrome are taller than expected for their age and family. Their arm span (the distance between fingertips when the arms are outstretched) is greater than their height. Their fingers are long and thin. Often, the breastbone (sternum) is deformed and pushed outward or inward. The joints may be very flexible. Flat feet Pes planus (flat feet) Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. Birth defects, also called congenital anomalies, are physical abnormalities... read more , a deformity of the knee joint that causes the knee to bend backward, and a humpback with an abnormal curve of the spine (kyphoscoliosis Scheuermann Disease Kyphosis is an abnormal curving of the spine that causes a humpback. (See also Overview of Bone Disorders in Children.) The upper back normally curves forward somewhat. Some children have a... read more ) are common, as are hernias. Usually, the person has little fat under the skin. The roof of the mouth is often high.
The most dangerous complications develop in the heart and lungs. Weakness may develop in the connective tissue of the wall of the aorta. The weakened wall may result in blood seeping between the inner layers of the aorta’s wall (aortic dissection Aortic Dissection An aortic dissection is an often fatal disorder in which the inner layer (lining) of the aortic wall tears and separates from the middle layer of the aortic wall. Most aortic dissections occur... read more ), which causes a tear, or in a bulge (aneurysm Overview of Aortic Aneurysms and Aortic Dissection The aorta, which is about 1 inch (2.5 centimeters) in diameter, is the largest artery of the body. It receives oxygen-rich blood from the left ventricle of the heart and distributes it to all... read more ) that can rupture. These problems sometimes develop before a child is 10 years old.
Pregnancy increases the risk of aortic dissection. Caesarean delivery Cesarean Delivery Cesarean delivery is surgical delivery of a baby by incision through a woman’s abdomen and uterus. In the United States, up to 30% of deliveries are cesarean. Doctors use a cesarean delivery... read more (C-section) is often recommended to minimize the risk.
If the aorta gradually widens or dilates, the aortic valve, which leads from the heart into the aorta, may begin to leak (called aortic regurgitation Aortic Regurgitation Aortic regurgitation is leakage of blood back through the aortic valve each time the left ventricle relaxes. Aortic regurgitation is due to deterioration of the aortic valve and the surrounding... read more ). Widening of the aorta occurs in 50% of children and in 60 to 80% of adults. The mitral valve, which is located between the left atrium and ventricle, may leak (mitral regurgitation Mitral Regurgitation Mitral regurgitation is leakage of blood backward through the mitral valve each time the left ventricle contracts. Disorders directly affecting the mitral valve and heart attack are the most... read more ) or bulge backward into the left atrium (mitral valve prolapse Mitral Valve Prolapse (MVP) Mitral valve prolapse is a disorder in which the valve flaps (cusps) bulge into the left atrium when the left ventricle contracts, sometimes allowing leakage (regurgitation) of blood into the... read more ).
These heart valve abnormalities can impair the heart’s ability to pump blood. Abnormal heart valves can also develop serious infections (infective endocarditis Infective Endocarditis Infective endocarditis is an infection of the lining of the heart (endocardium) and usually also of the heart valves. Infective endocarditis occurs when bacteria enter the bloodstream and travel... read more ).
Air-filled sacs (cysts) may develop in the lungs. The cysts may rupture, bringing air into the space that surrounds the lungs (pneumothorax Pneumothorax A pneumothorax is the presence of air between the two layers of pleura (thin, transparent, two-layered membrane that covers the lungs and also lines the inside of the chest wall), resulting... read more ). These disorders can cause pain and shortness of breath.
The lens of one or both eyes may be displaced (dislocated). People are very nearsighted (unable to see distant objects clearly). The light-sensitive area at the back of the eye (retina) may detach from the rest of the eye (see Detachment of the Retina Detachment of the Retina Detachment of the retina is separation of the retina (the transparent, light-sensitive structure at the back of the eye) from the underlying layer to which it is attached. People notice a sudden... read more ). Displacement of the lens and detachment of the retina may cause permanent loss of vision.
Spinal cord problems
The sac that surrounds the spinal cord may widen (called dural ectasia). Dural ectasia is common and most frequently occurs in the lower portions of the spine. It may cause headache, lower back pain, or other neurologic problems such as bowel or bladder weakness.
Diagnosis of Marfan Syndrome
A doctor's evaluation
Magnetic resonance imaging (MRI)
Doctors may suspect the diagnosis of Marfan syndrome if an unusually tall, thin person has any of the characteristic symptoms or if Marfan syndrome has been recognized in other family members (first-degree relatives such as the father, mother, or a sibling). Doctors also base the diagnosis on specific criteria regarding the extent to which certain organ systems, such as the heart, eyes, and bones, are affected.
Doctors may do an analysis of genes, usually from a sample of blood, to help diagnose Marfan syndrome.
Doctors monitor for complications that can cause serious symptoms. People should have their heart, bones, and eyes checked every year to see if they are getting worse. This annual evaluation usually includes echocardiography Echocardiography and Other Ultrasound Procedures Ultrasonography uses high-frequency (ultrasound) waves bounced off internal structures to produce a moving image. It uses no x-rays. Ultrasonography of the heart (echocardiography) is one of... read more of the heart and aorta; x-rays of the hand, spine, pelvis, chest, foot, and skull; and an eye examination. MRI Magnetic Resonance Imaging (MRI) In magnetic resonance imaging (MRI), a strong magnetic field and very high frequency radio waves are used to produce highly detailed images. MRI does not use x-rays and is usually very safe... read more can also be done to evaluate heart and brain problems. Echocardiography and eye examinations are also done whenever symptoms develop.
Prognosis of Marfan Syndrome
Years ago, most people with Marfan syndrome died in their 40s. Today, people who have Marfan syndrome have nearly the same life expectancy as people who do not have this condition. Prevention of aortic dissection and rupture probably explains why the life span has been lengthened.
Treatment of Marfan Syndrome
Sometimes surgical repair of the aorta and valves
Sometimes a brace and sometimes surgical repair for curving of the spine
There is no cure for Marfan syndrome or any way to correct the abnormalities in the connective tissue.
Treatment of Marfan syndrome is aimed at preventing and/or fixing abnormalities before dangerous complications develop. Beta-blockers (such as atenolol and propranolol) are drugs that slow the heart rate and decrease the force of heart contractions. These drugs are given to make blood flow more gently through the aorta. However, if the aorta has widened or developed an aneurysm, the affected section can be repaired or replaced surgically. Severe valve regurgitation is also surgically repaired. Pregnant women are at especially high risk of complications with their aorta, so repair of the aorta before conception should be discussed. Angiotensin II receptor blockers (such as losartan and candesartan) also may be given to lower blood pressure.
A displaced lens or retina can usually be reattached surgically.
A brace is used to treat abnormal curving of the spine (scoliosis Scoliosis Scoliosis is abnormal curvature of the spine. Scoliosis can be present at birth or can develop during adolescence. Mild forms may cause only mild discomfort, but more severe forms can cause... read more ) for as long as possible. However, some children need a surgical procedure to correct the curve.
People should receive genetic counseling. People and their families may obtain additional information from the National Marfan Foundation.
More Information about Marfan Syndrome
The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
National Marfan Foundation: Provides support, education, and community information about Marfan syndrome