Materiały źródłowe

• #1 Marfan Syndrome – Marfan Foundation

  https://marfan.org/conditions/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. […] Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) can be life-threatening. The lungs, skin, and nervous system may also be affected. Marfan syndrome does not affect intelligence. […] 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.

• #2 Marfan syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/marfan-syndrome/

  Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. […] Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. […] The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with proper treatment, many affected individuals have normal lifespans.

• #3 What is Marfan Syndrome? Symptoms & Causes | NIAMS

  https://www.niams.nih.gov/health-topics/marfan-syndrome

  Symptoms of Marfan syndrome can be mild to severe and vary because the condition can affect different areas of the body, including the: […] The symptoms of Marfan syndrome vary from person to person because connective tissue is found throughout the body. Some people have mild or just a few symptoms, while others can have more serious problems. Signs and symptoms may include: […] Because Marfan syndrome affects different areas of the body, other problems and complications can develop, including: […] A mutation or change in the fibrillin-1 (FBN1) gene causes Marfan syndrome.

• #4 Marfan Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537339/

  One of the most common inherited disorders affecting connective tissue, Marfan syndrome (MFS), is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals. There is a broad range of clinical severity associated with MFS, ranging from isolated features of MFS to neonatal presentation of severe and rapidly progressive disease involving multiple organ systems. The syndrome is associated with classic ocular, cardiovascular, and musculoskeletal abnormalities, although involvement of the lung, skin, and central nervous system may also occur. Decreased life expectancy occurs primarily due to aortic complications. […] The patients with MFS display multiple deformities of the skeleton, including dolichostenomelia (long limbs compared to trunk), arachnodactyly (abnormally long and thin digits), thoracolumbar scoliosis, and pectus deformities (excavatum and carinatum). Aortic regurgitation, dilatation, and aneurysms are most common in the cardiovascular system. Ocular findings include lens dislocation, cataracts, myopia, and retinal detachment.

• #5 Marfan syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

  People who have Marfan syndrome typically have especially long fingers. It’s common for their thumbs to extend far beyond the edge of their hands when they make a fist. […] Marfan syndrome is a genetic disorder that causes people to have unusually long arms, legs and fingers. Your doctor may want to measure your arm span if he or she thinks you might have the disorder. […] 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. […] Marfan syndrome features may include: 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.

• #6 Marfan syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/diagnosis-treatment/drc-20350787

  Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. […] Even among members of the same family, the signs and symptoms of Marfan syndrome vary widely both in their features and in their severity. […] Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome. […] In some cases, a person may have some features of Marfan syndrome, but not enough of them to be diagnosed with the disorder. […] If you are diagnosed with Marfan syndrome, you’ll need to have regular imaging tests to monitor the size and condition of your aorta. […] While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. […] To accomplish this, you’ll need to be checked regularly for signs that the damage caused by the disease is progressing.

• #7 Know the Signs – Marfan Foundation

  https://marfan.org/expectations/signs/

  People are born with Marfan syndrome but they may not notice any features until later in life and some of these features can appear at any age. Some people have many characteristics at birth or as young children. Other people develop aortic enlargement, as teens or even as adults. Some features are progressive, meaning they can get worse as people age. […] All of this makes it very important for people with Marfan syndrome to have ongoing monitoring, especially for life-threatening aspects of the condition like aortic enlargement. An accurate and early diagnosis helps to ensure proper treatment. Some treatments can prevent symptoms from getting worse and ultimately save lives. […] Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.

• #8 Marfan Syndrome: Symptoms, Causes, Risk Factors, and More

  https://www.healthline.com/health/marfan-syndrome

  A person with Marfan syndrome may: be unusually tall and slender […] The symptoms can range from mild to severe. When they appear and how quickly they progress can also vary. Some people develop them as children, while others dont notice changes until they are adults. […] Symptoms may appear in infancy and early childhood or later in life. Some people with the FBN1 change never develop symptoms. Some have only a few mild symptoms, but the symptoms can be severe for others. They often progress or worsen with age. […] Cardiovascular complications, especially problems relating to the aorta, can affect the lifespan of a person with Marfan syndrome. […] But doctors now know that seeking treatment for these problems and avoiding activities that worsen them, like contact sports, can reduce the risk of a life threatening event.

• #9

  https://www.nhs.uk/conditions/marfan-syndrome/symptoms/

  Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels (cardiovascular system). […] The severity of the symptoms can vary between individuals with Marfan syndrome. Some people experience a few mild symptoms, whereas others experience more severe symptoms. […] The symptoms of Marfan syndrome tend to get more severe as a person gets older. […] Marfan syndrome can cause the spine to become abnormally curved to the sides. This is known as scoliosis. […] Curvature of the spine can cause long-term backache. In severe cases, it can also make breathing difficult as the spine may press against the heart and lungs. […] Many people with Marfan syndrome have some type of vision problem. […] Lens dislocation affects half of all people with the syndrome.

• #10

  https://www.aao.org/eye-health/diseases/what-is-marfan-syndrome

  Marfan syndrome is a genetic condition that affects the body’s connective tissue. […] Although people are born with Marfan syndrome, its symptoms may not appear for a while. […] Symptoms of Marfan syndrome can involve many parts of the body. People with Marfan syndrome usually first notice its effect on their skeletal development. Someone with Marfan syndrome is usually very tall, thin, and loose-jointed. When they stretch out their arms from their sides, their arm length from one side to the other is greater than their height. […] Other symptoms are: long, slender fingers and toes, curvature of the spine, protruding or indented breastbone, bands of thin, wrinkled skin around the hips, shoulders or lower back, cardiovascular problems (heart murmurs, enlarged or bulging aorta). […] Eye problems are common in people with Marfan syndrome. Most people with Marfan syndrome have myopia (nearsightedness) and astigmatism. More than half of people with Marfan syndrome have a condition called ectopia lentis, which is when the eye’s lens becomes dislocated. Because the lens helps focus light rays on the retina, visual acuity worsens. Ectopia lentis is often the first sign of Marfan syndrome.

• #11 Marfan syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

  People who have Marfan syndrome typically have especially long fingers. It’s common for their thumbs to extend far beyond the edge of their hands when they make a fist. […] Marfan syndrome is a genetic disorder that causes people to have unusually long arms, legs and fingers. Your doctor may want to measure your arm span if he or she thinks you might have the disorder. […] 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. […] Marfan syndrome features may include: 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.

• #12 Marfan Syndrome – Pediatrics – MSD Manual Professional Edition

  https://www.msdmanuals.com/professional/pediatrics/connective-tissue-disorders-in-children/marfan-syndrome

  Arachnodactyly (disproportionately long, thin digits) is noticeable, often by the thumb sign (the distal phalanx of the thumb protrudes beyond the edge of the clenched fist). […] Findings include ectopia lentis (subluxation or upward dislocation of the lens) and iridodonesis (tremulousness of the iris). […] Cystic lung disease and recurrent spontaneous pneumothorax may occur. […] Dural ectasia (widening of the dural sac surrounding the spinal cord) is a common finding and most frequently occurs in the lumbosacral spine. […] Median life expectancy increased from 48 years in 1972 to near normal today in people receiving appropriate medical care. […] However, life expectancy is still reduced for the average patient, primarily because of the cardiac and vascular complications.

• #13 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/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. […] Typical symptoms can range from mild to severe and include long arms and fingers, flexible joints, and heart and lung problems. […] 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, a deformity of the knee joint that causes the knee to bend backward, and a humpback with an abnormal curve of the spine (kyphoscoliosis) are common, as are hernias. Usually, the person has little fat under the skin. The roof of the mouth is often high.

• #14 Marfan syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

  Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Foot pain and low back pain are common with Marfan syndrome. […] The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta the large artery that arises from the heart and supplies blood to the body. […] Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During pregnancy, the heart pumps more blood than usual. This can put extra stress on the aorta, which increases the risk of a deadly dissection or rupture.

• #15 Marfan syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/marfan-syndrome

  Marfan syndrome is a genetic disorder of the bodys connective tissue, which may affect the heart, eyes, skeleton and lungs. The most serious effects include those on the cardiovascular system, particularly the heart valves and aorta. The symptoms of Marfan syndrome differ from one person to the next, depending on which body part is affected and to what degree. Some people may not even realise they have the condition, because their features are either mild or not obvious. Symptoms may include: family history of the condition, long, narrow face, proportionately small lower jaw and narrow, highly arched palate, usually, tall lean stature with disproportionately long arms and legs, thin, long fingers and toes (arachnodactyly), sunken or protruding chest, loose and flexible joints, often prone to dislocation, scoliosis (sideways curve in the spine), visual problems, such as nearsightedness (myopia) or dislocation of the ocular lens, enlarged aorta, mitral valve prolapse, stretch marks (striae) often appear at an early age, but they are not related to weight fluctuation, pneumothorax spontaneous collapse of the lung, dural ectasia enlargement of the outer membrane around the brain and spinal cord.

• #16 Marfan Syndrome: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17209-marfan-syndrome

  Marfan syndrome can cause aortic aneurysm, aortic dissection and an enlarged heart. Many people with Marfan syndrome develop changes in their heart and blood vessels. The two main features of Marfan syndrome are aortic root aneurysm (widening or bulging of your aorta near your aortic valve) and dislocated eye lens (ectopia lentis). These two issues can lead to symptoms like: A heartbeat that feels like its skipping a beat or fluttering (heart palpitations), A heartbeat that feels too hard or too fast, Eye pain, Shortness of breath, Vision changes, like astigmatism and extreme nearsightedness. But Marfan syndrome can affect several other parts of your body, causing other symptoms. For example, physical features of Marfan syndrome may include: A long, narrow face, Arms, legs, fingers and toes that seem too long for the rest of your body, Crowded teeth, Curved spine (scoliosis), Flat feet, Joints that are weak and easily become dislocated, Stretch marks, even without weight changes, Sunken chest (pectus excavatum) or protruding chest (pectus carinatum), Tall and thin body build. Marfan syndrome can cause several complications affecting your heart, eyes and lungs. Cardiovascular complications are the most common complications of Marfan syndrome (MFS). They can include: Aortic dissection. This is a tear in the inner layer of your aortas wall, Heart valve disease. MFS can cause valve tissue to become weak and stretch, Enlarged heart. Your heart muscle may enlarge and weaken over time, Arrhythmia. An abnormal heart rhythm in MFS is often related to mitral valve prolapse, Brain aneurysms. This is a bulge in a weak area of a blood vessel in or around your brain. Eye complications may include: Cataracts, Glaucoma, Retinal detachment. The changes in lung tissue that occur with MFS increase your risk for: Asthma, Bronchitis, Chronic obstructive pulmonary disease (COPD), Collapsed lung (pneumothorax), Emphysema, Pneumonia. If you have Marfan syndrome, you can expect a lot of medical appointments and needing to have a thorough understanding of your body. MFS affects everyone differently, so youll have your own journey with the syndrome. Youll work closely with your team of healthcare providers to manage MFS as it changes. Cardiovascular impairment is still the most common cause of death in MFS. This is mainly due to sudden death in undiagnosed cases of MFS. Its also more likely to affect people who get a late MFS diagnosis.

• #17 Marfan syndrome – UF Health

  https://ufhealth.org/conditions-and-treatments/marfan-syndrome

  People with Marfan syndrome are often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). The length of the arms is greater than height when arms are stretched out. […] Other symptoms include: A chest that sinks in or sticks out, called funnel chest (pectus excavatum) or pigeon breast (pectus carinatum), Flat feet, Highly arched palate and crowded teeth, Hypotonia of muscles (low muscle tone), Joints that are too flexible (but the elbows may be less flexible), Learning disability, Movement of the lens of the eye from its normal position (dislocation), Nearsightedness, Small lower jaw (micrognathia), Spine that curves to one side (scoliosis), Thin, narrow face. […] Many people with Marfan syndrome suffer from chronic muscle and joint pain. […] Heart-related complications may shorten the lifespan of people with this disease. However, many people live into their 60s and beyond. Good care and surgery may further extend lifespan.

• #18 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/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. […] Typical symptoms can range from mild to severe and include long arms and fingers, flexible joints, and heart and lung problems. […] 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, a deformity of the knee joint that causes the knee to bend backward, and a humpback with an abnormal curve of the spine (kyphoscoliosis) are common, as are hernias. Usually, the person has little fat under the skin. The roof of the mouth is often high.

• #19 Marfan Syndrome: Symptoms, Treatment and Prevention – Victor Chang Cardiac Research Institute

  https://www.victorchang.edu.au/heart-disease/marfan-syndrome

  The symptoms of Marfan syndrome can vary greatly between individuals even within the same family. […] Symptoms may include: […] physical features such as: […] a long narrow face […] tall and lean build […] arms, legs, toes and fingers that are long in proportion to the rest of the body […] sunken or sticking out breastbone […] small lower jaw, crowded teeth and high-arched palate […] flat feet […] joints that are weak, loose and prone to dislocation […] sideways curvature of the spine (scoliosis) […] eye issues such as near-sightedness […] enlarged aorta […] enlarged heart […] heart valve issues […] stretch marks unrelated to weight changes […] collapsed lung (pneumothorax). […] There is no cure for Marfan syndrome and treatment varies depending on what parts of the body are affected and the severity of symptoms.

• #20 Marfan Syndrome: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17209-marfan-syndrome

  Marfan syndrome can cause aortic aneurysm, aortic dissection and an enlarged heart. Many people with Marfan syndrome develop changes in their heart and blood vessels. The two main features of Marfan syndrome are aortic root aneurysm (widening or bulging of your aorta near your aortic valve) and dislocated eye lens (ectopia lentis). These two issues can lead to symptoms like: A heartbeat that feels like its skipping a beat or fluttering (heart palpitations), A heartbeat that feels too hard or too fast, Eye pain, Shortness of breath, Vision changes, like astigmatism and extreme nearsightedness. But Marfan syndrome can affect several other parts of your body, causing other symptoms. For example, physical features of Marfan syndrome may include: A long, narrow face, Arms, legs, fingers and toes that seem too long for the rest of your body, Crowded teeth, Curved spine (scoliosis), Flat feet, Joints that are weak and easily become dislocated, Stretch marks, even without weight changes, Sunken chest (pectus excavatum) or protruding chest (pectus carinatum), Tall and thin body build. Marfan syndrome can cause several complications affecting your heart, eyes and lungs. Cardiovascular complications are the most common complications of Marfan syndrome (MFS). They can include: Aortic dissection. This is a tear in the inner layer of your aortas wall, Heart valve disease. MFS can cause valve tissue to become weak and stretch, Enlarged heart. Your heart muscle may enlarge and weaken over time, Arrhythmia. An abnormal heart rhythm in MFS is often related to mitral valve prolapse, Brain aneurysms. This is a bulge in a weak area of a blood vessel in or around your brain. Eye complications may include: Cataracts, Glaucoma, Retinal detachment. The changes in lung tissue that occur with MFS increase your risk for: Asthma, Bronchitis, Chronic obstructive pulmonary disease (COPD), Collapsed lung (pneumothorax), Emphysema, Pneumonia. If you have Marfan syndrome, you can expect a lot of medical appointments and needing to have a thorough understanding of your body. MFS affects everyone differently, so youll have your own journey with the syndrome. Youll work closely with your team of healthcare providers to manage MFS as it changes. Cardiovascular impairment is still the most common cause of death in MFS. This is mainly due to sudden death in undiagnosed cases of MFS. Its also more likely to affect people who get a late MFS diagnosis.

• #21 Marfan syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Marfan_syndrome

  Tall thin build; long arms, legs and fingers; flexible fingers and toes. […] The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. […] The severity of the symptoms is variable. […] The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or chest pain radiating to the back, shoulder, or arm. […] A heart murmur, abnormal reading on an ECG, or symptoms of angina can indicate further investigation. […] The signs of regurgitation from prolapse of the mitral or aortic valves (which control the flow of blood through the heart) result from cystic medial degeneration of the valves, which is commonly associated with MFS.

• #22 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/marfan-syndrome

  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 aortas wall (aortic dissection), which causes a tear, or in a bulge (aneurysm) that can rupture. These problems sometimes develop before a child is 10 years old. […] 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). 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) or bulge backward into the left atrium (mitral valve prolapse). […] Air-filled sacs (cysts) may develop in the lungs. The cysts may rupture, bringing air into the space that surrounds the lungs (pneumothorax). These disorders can cause pain and shortness of breath.

• #23 About Marfan Syndrome | Heart Disease | CDC

  https://www.cdc.gov/heart-disease/about/marfan-syndrome.html

  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 very serious, like an aneurysm (bulge) of the aorta, the main artery that takes blood away from the heart. An aortic aneurysm can cause the walls of the aorta to tear apart (dissect) and blood to leak in the space created by the tear. An aortic aneurysm can be life threatening. […] People with Marfan syndrome are often tall and thin, with very long arms, legs, fingers, and toes. […] Some people with Marfan syndrome don’t show signs of it until later in childhood or in adulthood. […] 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.

• #24

  https://www.nccs.com.sg/patient-care/conditions-treatments/marfan-syndrome

  While Marfan syndrome may be present at birth, some symptoms develop gradually over a number of years. The severity of symptoms varies from person to person, even among affected family members. […] Weakening and stretching of the blood vessels can occur. This applies in particular to the aorta (the main blood vessel carrying blood away from the heart) and increases the risk of aortic aneurysm, dissection or rupture (bursting). The hearts valves may also be affected. The most common condition is mitral valve prolapse (MVP). In MVP, the valve leaflets become floppy and do not close tightly. This can cause leakage of blood backwards across the valve. This is known as mitral regurgitation (MR). If mitral regurgitation progresses and is left untreated, it can eventually cause heart failure. […] Asthma, emphysema, pneumothorax (collapsed lung)

• #25 Marfan syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Marfan_syndrome

  Tall thin build; long arms, legs and fingers; flexible fingers and toes. […] The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. […] The severity of the symptoms is variable. […] The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or chest pain radiating to the back, shoulder, or arm. […] A heart murmur, abnormal reading on an ECG, or symptoms of angina can indicate further investigation. […] The signs of regurgitation from prolapse of the mitral or aortic valves (which control the flow of blood through the heart) result from cystic medial degeneration of the valves, which is commonly associated with MFS.

• #26 Marfan Syndrome: Symptoms, Treatment, Life Expectancy

  https://www.verywellhealth.com/marfan-syndrome-5113945

  Sometimes the heart valves are affected in Marfan syndrome. For example, some people have a prolapsed mitral valve or an aortic valve that doesn’t work correctly. These valve issues may also increase the risk of endocarditis (infection of the valves). […] A minority of people with Marfan syndrome eventually develop problems with the heart muscle itself (Marfan cardiomyopathy), which might lead to symptoms like shortness of breath. […] Additionally, people with Marfan syndrome have an increased risk of dangerous heart rhythms. In some people, these can lead to sudden cardiac death. […] The most common eye issue is the displacement of the eye lens (ectopia lentis, or lens subluxation). This issue tends to occur in a person’s 30s or 40s. It can lead to symptoms like blurred and double vision.

• #27 Marfan Syndrome: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17209-marfan-syndrome

  Marfan syndrome can cause aortic aneurysm, aortic dissection and an enlarged heart. Many people with Marfan syndrome develop changes in their heart and blood vessels. The two main features of Marfan syndrome are aortic root aneurysm (widening or bulging of your aorta near your aortic valve) and dislocated eye lens (ectopia lentis). These two issues can lead to symptoms like: A heartbeat that feels like its skipping a beat or fluttering (heart palpitations), A heartbeat that feels too hard or too fast, Eye pain, Shortness of breath, Vision changes, like astigmatism and extreme nearsightedness. But Marfan syndrome can affect several other parts of your body, causing other symptoms. For example, physical features of Marfan syndrome may include: A long, narrow face, Arms, legs, fingers and toes that seem too long for the rest of your body, Crowded teeth, Curved spine (scoliosis), Flat feet, Joints that are weak and easily become dislocated, Stretch marks, even without weight changes, Sunken chest (pectus excavatum) or protruding chest (pectus carinatum), Tall and thin body build. Marfan syndrome can cause several complications affecting your heart, eyes and lungs. Cardiovascular complications are the most common complications of Marfan syndrome (MFS). They can include: Aortic dissection. This is a tear in the inner layer of your aortas wall, Heart valve disease. MFS can cause valve tissue to become weak and stretch, Enlarged heart. Your heart muscle may enlarge and weaken over time, Arrhythmia. An abnormal heart rhythm in MFS is often related to mitral valve prolapse, Brain aneurysms. This is a bulge in a weak area of a blood vessel in or around your brain. Eye complications may include: Cataracts, Glaucoma, Retinal detachment. The changes in lung tissue that occur with MFS increase your risk for: Asthma, Bronchitis, Chronic obstructive pulmonary disease (COPD), Collapsed lung (pneumothorax), Emphysema, Pneumonia. If you have Marfan syndrome, you can expect a lot of medical appointments and needing to have a thorough understanding of your body. MFS affects everyone differently, so youll have your own journey with the syndrome. Youll work closely with your team of healthcare providers to manage MFS as it changes. Cardiovascular impairment is still the most common cause of death in MFS. This is mainly due to sudden death in undiagnosed cases of MFS. Its also more likely to affect people who get a late MFS diagnosis.

• #28 Marfan Syndrome | University of Utah Health

  https://healthcare.utah.edu/cardiovascular/conditions/marfan-syndrome

  Your symptoms will vary depending on the type of gene mutation you have. But in general, Marfan syndrome often affects the following body parts: […] Many people with Marfan syndrome who have heart problems experience no symptoms. If you have valvular heart disease, your specialist may notice a heart murmur when they listen to your chest with a stethoscope. Heart murmurs are common symptoms of heart valve disease. This may lead to a mitral valve prolapse or other heart valve disease diagnosis before you ever experience symptoms. […] If mitral valve prolapse progresses without treatment, you may experience these heart failure symptoms: Fatigue, Shortness of breath, Swelling in your feet, ankles, and legs. […] People with an aortic aneurysm often don’t have any symptoms. You typically won’t know you have an aortic aneurysm unless your specialist notices the aneurysm during imaging for something else.

• #29 Marfan Syndrome in Children | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions—pediatrics/m/marfan-syndrome-in-children.html

  Marfan syndrome can affect the heart and blood vessels, bones and joints, and eyes. Symptoms can occur a bit differently in each child. They can include: […] A child with Marfan syndrome may have problems with the bones and joints, heart and blood vessels, and eyes. […] The symptoms of Marfan syndrome can be like other health conditions. Make sure your child sees their healthcare provider for a diagnosis. […] Treatment is based on which organs and body systems are affected. […] A dissecting aorta can be a medical emergency.

• #30 Marfan Syndrome | University of Utah Health

  https://healthcare.utah.edu/cardiovascular/conditions/marfan-syndrome

  Your symptoms will vary depending on the type of gene mutation you have. But in general, Marfan syndrome often affects the following body parts: […] Many people with Marfan syndrome who have heart problems experience no symptoms. If you have valvular heart disease, your specialist may notice a heart murmur when they listen to your chest with a stethoscope. Heart murmurs are common symptoms of heart valve disease. This may lead to a mitral valve prolapse or other heart valve disease diagnosis before you ever experience symptoms. […] If mitral valve prolapse progresses without treatment, you may experience these heart failure symptoms: Fatigue, Shortness of breath, Swelling in your feet, ankles, and legs. […] People with an aortic aneurysm often don’t have any symptoms. You typically won’t know you have an aortic aneurysm unless your specialist notices the aneurysm during imaging for something else.

• #31

  https://www.aao.org/eye-health/diseases/what-is-marfan-syndrome

  Marfan syndrome is a genetic condition that affects the body’s connective tissue. […] Although people are born with Marfan syndrome, its symptoms may not appear for a while. […] Symptoms of Marfan syndrome can involve many parts of the body. People with Marfan syndrome usually first notice its effect on their skeletal development. Someone with Marfan syndrome is usually very tall, thin, and loose-jointed. When they stretch out their arms from their sides, their arm length from one side to the other is greater than their height. […] Other symptoms are: long, slender fingers and toes, curvature of the spine, protruding or indented breastbone, bands of thin, wrinkled skin around the hips, shoulders or lower back, cardiovascular problems (heart murmurs, enlarged or bulging aorta). […] Eye problems are common in people with Marfan syndrome. Most people with Marfan syndrome have myopia (nearsightedness) and astigmatism. More than half of people with Marfan syndrome have a condition called ectopia lentis, which is when the eye’s lens becomes dislocated. Because the lens helps focus light rays on the retina, visual acuity worsens. Ectopia lentis is often the first sign of Marfan syndrome.

• #32 About Marfan Syndrome

  https://www.genome.gov/Genetic-Disorders/Marfan-Syndrome

  Marfan syndrome is one of the most common inherited disorders of connective tissue. There is a wide variability in clinical symptoms in Marfan syndrome with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems. […] The most common symptom of Marfan syndrome is myopia (nearsightedness from the increased curve of the retina due to connective tissue changes in the globe of the eye). About 60 percent of individuals who have Marfan syndrome have lens displacement from the center of the pupil (ectopia lentis). Individuals who have Marfan syndrome also have an increased risk for retinal detachment, glaucoma and early cataract formation. […] Other common symptoms of Marfan syndrome involve the skeleton and connective tissue systems. These include bone overgrowth and loose joints (joint laxity). Individuals who have Marfan syndrome have long thin arms and legs (dolichostenomelia). Overgrowth of the ribs can cause the chest bone (sternum) to bend inward (pectus excavatum or funnel chest) or push outward (pectus carinatum or pigeon breast). Curvature of the spine (scoliosis) is another common skeletal symptom that can be mild or severe and progressively worsen with age. Scoliosis shortens the trunk also contributes to the arms and legs appearing too long.

• #33 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/marfan-syndrome

  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). Displacement of the lens and detachment of the retina may cause permanent loss of vision. […] The sac that surrounds the spinal cord may widen (called dural ectasia). Dural ectasia is common in people with Marfan syndrome 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. […] 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.

• #34

  https://www.aao.org/eye-health/diseases/what-is-marfan-syndrome

  Other Marfan syndrome symptoms involving the eye include: thinning or abnormal shape of the cornea, early onset of cataracts (clouding of the eyes normally clear lens), glaucoma (high pressure inside the eye that can lead to vision loss), strabismus (when the eyes are not aligned properly and point in different directions), retinal detachment (when the light sensitive tissue peels off from the back of the eye). […] Marfan syndrome can cause several different eye disorders. You should see an ophthalmologist regularly. Your ophthalmologist can treat many of the eye problems associated with Marfan syndrome. […] Having Marfan syndrome also puts you at higher risk for several eye diseases. You may develop cataracts at a younger age with Marfan syndrome. If cataracts do develop, cataract surgery can improve your vision.

• #35

  https://www.aao.org/eye-health/diseases/what-is-marfan-syndrome

  Other Marfan syndrome symptoms involving the eye include: thinning or abnormal shape of the cornea, early onset of cataracts (clouding of the eyes normally clear lens), glaucoma (high pressure inside the eye that can lead to vision loss), strabismus (when the eyes are not aligned properly and point in different directions), retinal detachment (when the light sensitive tissue peels off from the back of the eye). […] Marfan syndrome can cause several different eye disorders. You should see an ophthalmologist regularly. Your ophthalmologist can treat many of the eye problems associated with Marfan syndrome. […] Having Marfan syndrome also puts you at higher risk for several eye diseases. You may develop cataracts at a younger age with Marfan syndrome. If cataracts do develop, cataract surgery can improve your vision.

• #36

  https://www.aao.org/eye-health/diseases/what-is-marfan-syndrome

  Other Marfan syndrome symptoms involving the eye include: thinning or abnormal shape of the cornea, early onset of cataracts (clouding of the eyes normally clear lens), glaucoma (high pressure inside the eye that can lead to vision loss), strabismus (when the eyes are not aligned properly and point in different directions), retinal detachment (when the light sensitive tissue peels off from the back of the eye). […] Marfan syndrome can cause several different eye disorders. You should see an ophthalmologist regularly. Your ophthalmologist can treat many of the eye problems associated with Marfan syndrome. […] Having Marfan syndrome also puts you at higher risk for several eye diseases. You may develop cataracts at a younger age with Marfan syndrome. If cataracts do develop, cataract surgery can improve your vision.

• #37 Marfan syndrome | STROKE MANUAL

  https://www.stroke-manual.com/marfan-syndrome/

  Tall figure, long, thin limbs, hypermobile joints, scapula alata, pectus carinatum or excavatum, pes planus, arachnodactyly, scoliosis and other spinal deformities, dolichocephaly are skeletal malformations associated with Marfan syndrome. Lens ectopia (dislocation) in up to 50-60%, typically bilateral, high-degree myopia is common due to elongation of the eyeball, retinal detachment, secondary glaucoma, cataract, corneal flatness, and astigmatism are ophthalmologic symptoms.

• #38 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/marfan-syndrome

  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). Displacement of the lens and detachment of the retina may cause permanent loss of vision. […] The sac that surrounds the spinal cord may widen (called dural ectasia). Dural ectasia is common in people with Marfan syndrome 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. […] 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.

• #39 Marfan syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Marfan_syndrome

  However, the major sign that would lead a doctor to consider an underlying condition is a dilated aorta or an aortic aneurysm. […] Sometimes, no heart problems are apparent until the weakening of the connective tissue (cystic medial degeneration) in the ascending aorta causes an aortic aneurysm or aortic dissection, a surgical emergency. […] Individuals with Marfan syndrome may be affected by various lung-related problems. […] Spontaneous pneumothorax is common. […] The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. […] There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades and is now similar to that of the average person. […] Regular checkups are recommended to monitor the health of the heart valves and the aorta.

• #40 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/marfan-syndrome

  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 aortas wall (aortic dissection), which causes a tear, or in a bulge (aneurysm) that can rupture. These problems sometimes develop before a child is 10 years old. […] 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). 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) or bulge backward into the left atrium (mitral valve prolapse). […] Air-filled sacs (cysts) may develop in the lungs. The cysts may rupture, bringing air into the space that surrounds the lungs (pneumothorax). These disorders can cause pain and shortness of breath.

• #41 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/marfan-syndrome

  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 aortas wall (aortic dissection), which causes a tear, or in a bulge (aneurysm) that can rupture. These problems sometimes develop before a child is 10 years old. […] 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). 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) or bulge backward into the left atrium (mitral valve prolapse). […] Air-filled sacs (cysts) may develop in the lungs. The cysts may rupture, bringing air into the space that surrounds the lungs (pneumothorax). These disorders can cause pain and shortness of breath.

• #42 Marfan Syndrome: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17209-marfan-syndrome

  Marfan syndrome can cause aortic aneurysm, aortic dissection and an enlarged heart. Many people with Marfan syndrome develop changes in their heart and blood vessels. The two main features of Marfan syndrome are aortic root aneurysm (widening or bulging of your aorta near your aortic valve) and dislocated eye lens (ectopia lentis). These two issues can lead to symptoms like: A heartbeat that feels like its skipping a beat or fluttering (heart palpitations), A heartbeat that feels too hard or too fast, Eye pain, Shortness of breath, Vision changes, like astigmatism and extreme nearsightedness. But Marfan syndrome can affect several other parts of your body, causing other symptoms. For example, physical features of Marfan syndrome may include: A long, narrow face, Arms, legs, fingers and toes that seem too long for the rest of your body, Crowded teeth, Curved spine (scoliosis), Flat feet, Joints that are weak and easily become dislocated, Stretch marks, even without weight changes, Sunken chest (pectus excavatum) or protruding chest (pectus carinatum), Tall and thin body build. Marfan syndrome can cause several complications affecting your heart, eyes and lungs. Cardiovascular complications are the most common complications of Marfan syndrome (MFS). They can include: Aortic dissection. This is a tear in the inner layer of your aortas wall, Heart valve disease. MFS can cause valve tissue to become weak and stretch, Enlarged heart. Your heart muscle may enlarge and weaken over time, Arrhythmia. An abnormal heart rhythm in MFS is often related to mitral valve prolapse, Brain aneurysms. This is a bulge in a weak area of a blood vessel in or around your brain. Eye complications may include: Cataracts, Glaucoma, Retinal detachment. The changes in lung tissue that occur with MFS increase your risk for: Asthma, Bronchitis, Chronic obstructive pulmonary disease (COPD), Collapsed lung (pneumothorax), Emphysema, Pneumonia. If you have Marfan syndrome, you can expect a lot of medical appointments and needing to have a thorough understanding of your body. MFS affects everyone differently, so youll have your own journey with the syndrome. Youll work closely with your team of healthcare providers to manage MFS as it changes. Cardiovascular impairment is still the most common cause of death in MFS. This is mainly due to sudden death in undiagnosed cases of MFS. Its also more likely to affect people who get a late MFS diagnosis.

• #43 How Can You Tell if You Have Marfan Syndrome? | Hackensack Meridian Health

  https://www.hackensackmeridianhealth.org/en/healthu/2023/04/11/how-can-you-tell-if-you-have-marfan-syndrome

  Marfan syndrome is a genetic disorder affecting the connective tissues of the body, typically associated with a person having a very long and slender body type. […] Since Marfan syndrome affects the connective tissues, it can impact the body broadly. But most commonly, it affects the heart, eyes and skeleton, says David Silber, D.O., FACC, an advanced heart failure and transplant cardiologist at Hackensack University Medical Center. […] Because Marfan syndrome can impact so many different areas of the body, symptoms can vary greatly, even among family members who are commonly affected, Dr. Silber says. […] But common signs include: tall and slender build, loose joints (sometimes referred to as being double-jointed), arm span longer than a person’s height, elongated fingers and toes, spine curvature, sunken or protruding chest, which can affect lung function.

• #44 Marfan syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/marfan-syndrome

  Marfan syndrome is a genetic disorder of the bodys connective tissue, which may affect the heart, eyes, skeleton and lungs. The most serious effects include those on the cardiovascular system, particularly the heart valves and aorta. The symptoms of Marfan syndrome differ from one person to the next, depending on which body part is affected and to what degree. Some people may not even realise they have the condition, because their features are either mild or not obvious. Symptoms may include: family history of the condition, long, narrow face, proportionately small lower jaw and narrow, highly arched palate, usually, tall lean stature with disproportionately long arms and legs, thin, long fingers and toes (arachnodactyly), sunken or protruding chest, loose and flexible joints, often prone to dislocation, scoliosis (sideways curve in the spine), visual problems, such as nearsightedness (myopia) or dislocation of the ocular lens, enlarged aorta, mitral valve prolapse, stretch marks (striae) often appear at an early age, but they are not related to weight fluctuation, pneumothorax spontaneous collapse of the lung, dural ectasia enlargement of the outer membrane around the brain and spinal cord.

• #45

  https://www.nhs.uk/conditions/marfan-syndrome/symptoms/

  Marfan syndrome can affect the cardiovascular system, which is made up of your heart and blood vessels. […] It’s particularly serious if your aorta and heart valves are affected. […] In some people with Marfan syndrome, the walls of the aorta are weak. […] This can sometimes cause the aorta to enlarge and balloon, which is known as an abdominal aortic aneurysm. […] In severe cases, the aorta can split (rupture), causing internal bleeding that can lead to death. […] In some people with Marfan syndrome, the mitral or tricuspid valves do not close properly and blood leaks back through the valve. […] People with Marfan syndrome often develop stretch marks because the tissue in their skin is weakened and the skin is not as elastic as it should be.

• #46 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/marfan-syndrome

  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). Displacement of the lens and detachment of the retina may cause permanent loss of vision. […] The sac that surrounds the spinal cord may widen (called dural ectasia). Dural ectasia is common in people with Marfan syndrome 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. […] 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.

• #47 Marfan Syndrome Causes, Symptoms, Treatment | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/marfan-syndrome/

  The aorta is the largest blood vessel in the body and may be affected by Marfan syndrome. […] Every time the heart beats, there is pressure or stress that occurs on the aortic wall. […] Symptoms of an aortic dissection include chest pain radiating (spreading out) to the neck or back, difficulty breathing, dizziness or lightheadedness and passing out. […] Patients with Marfan syndrome are at risk for developing collapse of the lung (pneumothorax). […] The central nervous system is made up of the brain and the spinal cord, which are surrounded by a membrane called the dura. […] There is an increased incidence of hernias in the groin (inguinal hernias) in people with Marfan syndrome. […] There is no cure for Marfan syndrome at this time. However, medications are used to help slow the progression of the aortic dilation. […] The life expectancy for someone with Marfan syndrome is similar to someone in the general population, as long as they receive frequent surveillance and appropriate medical care.

• #48 Marfan syndrome – UF Health

  https://ufhealth.org/conditions-and-treatments/marfan-syndrome

  People with Marfan syndrome are often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). The length of the arms is greater than height when arms are stretched out. […] Other symptoms include: A chest that sinks in or sticks out, called funnel chest (pectus excavatum) or pigeon breast (pectus carinatum), Flat feet, Highly arched palate and crowded teeth, Hypotonia of muscles (low muscle tone), Joints that are too flexible (but the elbows may be less flexible), Learning disability, Movement of the lens of the eye from its normal position (dislocation), Nearsightedness, Small lower jaw (micrognathia), Spine that curves to one side (scoliosis), Thin, narrow face. […] Many people with Marfan syndrome suffer from chronic muscle and joint pain. […] Heart-related complications may shorten the lifespan of people with this disease. However, many people live into their 60s and beyond. Good care and surgery may further extend lifespan.

• #49 What are the signs of Marfan Syndrome? | Marfan Trust

  https://www.marfantrust.org/resources/43-what-are-the-signs-of-marfan-syndrome

  Ballooning and potentially fatal tearing of the aorta and backward billowing of the hearts valves. These symptoms can cause death at an early age unless diagnosed in good time and treated medically and surgically. […] A high-arched palate and crowded teeth. […] Bowel gastrointestinal disturbances constituting irritable bowel syndrome (IBS).

• #50 Marfan Syndrome: Causes, Symptoms, Diagnosis, and Treatments

  https://www.webmd.com/heart-disease/marfan-syndrome

  Marfan syndrome is a variable expression genetic disorder. This means the symptoms can be different from one person to another. They can also vary in how severe they are, and they can range from mild to life-threatening. Symptoms tend to get worse as you get older. […] For most people, Marfan syndrome will get worse as you get older. For some people, this can happen early in life such that it will quickly affect many parts of the body. For others, the progression may happen more slowly.

• #51

  https://www.nhs.uk/conditions/marfan-syndrome/symptoms/

  Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels (cardiovascular system). […] The severity of the symptoms can vary between individuals with Marfan syndrome. Some people experience a few mild symptoms, whereas others experience more severe symptoms. […] The symptoms of Marfan syndrome tend to get more severe as a person gets older. […] Marfan syndrome can cause the spine to become abnormally curved to the sides. This is known as scoliosis. […] Curvature of the spine can cause long-term backache. In severe cases, it can also make breathing difficult as the spine may press against the heart and lungs. […] Many people with Marfan syndrome have some type of vision problem. […] Lens dislocation affects half of all people with the syndrome.

• #52 Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies

  https://www.mdpi.com/2075-4418/13/13/2284

  Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene (FBN1). Cardinal clinical phenotypes of MFS are highly variable in terms of severity, and commonly involve cardiovascular, ocular, and musculoskeletal systems with a wide range of manifestations, such as ascending aorta aneurysms and dissection, mitral valve prolapse, ectopia lentis and long bone overgrowth, respectively. […] The timing at which clinical symptoms appear can vary significantly in individuals, ranging from severe cardiovascular complications present at birth in the neonatal form, to patients developing manifestations later in life. If left untreated, the average lifespan for patients is typically around 40 years. However, the past 30 years have brought about considerable advancements in management techniques and research, leading to a significant increase in patients’ life expectancy. The factors that have been reported to expedite the progression of aortic dilatation or dissection include elevated blood pressure, strenuous physical exertion (especially isometric sports activity), and pregnancy.

• #53 Marfan syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

  Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Foot pain and low back pain are common with Marfan syndrome. […] The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta the large artery that arises from the heart and supplies blood to the body. […] Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During pregnancy, the heart pumps more blood than usual. This can put extra stress on the aorta, which increases the risk of a deadly dissection or rupture.

• #54 Marfan Syndrome – Seattle Children’s

  https://www.seattlechildrens.org/conditions/marfan-syndrome/

  The symptoms of Marfan syndrome may vary greatly, even among children in the same family. Symptoms can range from mild to severe. […] Some children have no symptoms early in life. But as they grow, they develop common Marfan symptoms and traits. […] Newborns with signs of Marfan syndrome may have more serious heart problems than children diagnosed at an older age. […] In children up to age 12, the most common symptoms of Marfan syndrome are with their bones. Your child may have these traits: Tall and thin frame, Long, slender fingers, thumbs and toes, Breastbone that caves inward or pushes forward, Loose joints, Scoliosis, Flat feet, Vision problems, Heart murmur. […] Many of the traits of Marfan syndrome may be quite mild early in life and become easier to notice as your child grows. So, your child may not be diagnosed with Marfan syndrome until their teenage years. […] Along with the common traits listed above for children, your teens doctor will be looking for these signs and symptoms: Heart murmur, Arrhythmia, Shortness of breath.

• #55 Marfan syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Marfan_syndrome

  However, the major sign that would lead a doctor to consider an underlying condition is a dilated aorta or an aortic aneurysm. […] Sometimes, no heart problems are apparent until the weakening of the connective tissue (cystic medial degeneration) in the ascending aorta causes an aortic aneurysm or aortic dissection, a surgical emergency. […] Individuals with Marfan syndrome may be affected by various lung-related problems. […] Spontaneous pneumothorax is common. […] The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. […] There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades and is now similar to that of the average person. […] Regular checkups are recommended to monitor the health of the heart valves and the aorta.

• #56 Marfan syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/diagnosis-treatment/drc-20350787

  In the past, people who had Marfan syndrome often died young. […] With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span. […] The vision problems associated with a dislocated lens in your eye often can be corrected with glasses or contact lenses. […] You may need to avoid competitive sports and certain recreational activities if you’re at increased risk of aortic dissection or rupture. […] Living with a genetic disorder can be extremely difficult for both adults and children. […] And they may worry about passing the defective gene to their children. […] But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of childhood and adolescence may be exacerbated by the disease’s effect on appearance, academic performance and motor skills. […] For example, children with Marfan syndrome may struggle in school because of vision problems that can be corrected with glasses or contact lenses.

• #57 Marfan Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537339/

  The lifespan of untreated patients with the classic MFS was approximately 32 years in 1972 but has markedly increased to 72 years in 1993. Beta-blockers, noninvasive aortic imaging, and elective aortic root repair have all improved survival. Life expectancy is significantly lower in men than in women. Patient longevity is now almost similar to persons without MFS. However, cardiovascular impairment is still the most common cause of mortality, mainly because of sudden death in an undiagnosed patient and in a newly diagnosed patient whose disease process has worsened beyond the scope of medical or surgical cure.

• #58 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/marfan-syndrome

  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). Displacement of the lens and detachment of the retina may cause permanent loss of vision. […] The sac that surrounds the spinal cord may widen (called dural ectasia). Dural ectasia is common in people with Marfan syndrome 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. […] 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.

• #59 Marfan Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK537339/

  The lifespan of untreated patients with the classic MFS was approximately 32 years in 1972 but has markedly increased to 72 years in 1993. Beta-blockers, noninvasive aortic imaging, and elective aortic root repair have all improved survival. Life expectancy is significantly lower in men than in women. Patient longevity is now almost similar to persons without MFS. However, cardiovascular impairment is still the most common cause of mortality, mainly because of sudden death in an undiagnosed patient and in a newly diagnosed patient whose disease process has worsened beyond the scope of medical or surgical cure.

• #60 Marfan syndrome Guide: Causes, Symptoms and Treatment Options

  https://www.drugs.com/health-guide/marfan-syndrome.html

  Marfan syndrome affects each person differently, and the presence and severity of symptoms can vary. […] Vision problems, including nearsightedness and ectopia lentis, usually develop. The symptoms, such as chest pain and shortness of breath, can be very dramatic if there is expansion of an aortic aneurysm or heart valve damage.

• #61 Marfan Syndrome Treatment – UChicago Medicine

  https://www.uchicagomedicine.org/conditions-services/heart-vascular/marfan-syndrome/treatments

  There is no cure for Marfan syndrome currently, but the symptoms and complications can be managed through medical treatments, nonsurgical interventions and surgery as needed. […] Patients with Marfan syndrome may experience fatigue, joint pain and difficulty with physical activity. […] Treatment typically focuses on managing symptoms and preventing complications, and may involve medication, surgery or other interventions.

• #62 Marfan syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/diagnosis-treatment/drc-20350787

  Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. […] Even among members of the same family, the signs and symptoms of Marfan syndrome vary widely both in their features and in their severity. […] Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome. […] In some cases, a person may have some features of Marfan syndrome, but not enough of them to be diagnosed with the disorder. […] If you are diagnosed with Marfan syndrome, you’ll need to have regular imaging tests to monitor the size and condition of your aorta. […] While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. […] To accomplish this, you’ll need to be checked regularly for signs that the damage caused by the disease is progressing.

• #63 Marfan syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/marfan-syndrome

  Marfan syndrome can be mild to severe, and may become worse with age, depending on which area is affected and to what degree. […] If the heart valves are affected, blood may seep backwards and place extra strain on the heart. The heart may then enlarge to cope with the extra workload. Other common problems include spinal curvature (scoliosis) and nearsightedness. […] There is currently no cure for Marfan syndrome. Depending on which body parts are affected and to what degree, regular monitoring and treatment options may include: lifestyle changes, regular echocardiogram tests to monitor heart and aorta size and function, regular eye examinations and treatment, regular check-ups to monitor the skeleton and offer corrective treatment if necessary. This is particularly important during the growth spurt of puberty, medication, such as beta-blockers, to reduce blood pressure and relieve the strain on the cardiovascular system, measures such as a course of antibiotics to prevent infection prior to any type of surgery involving the teeth, genitals or urinary system to reduce the risk of heart valve problems, including infection (endocarditis), heart surgery, such as surgical repair of valves and aorta.

• #64 Marfan syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Marfan_syndrome

  The goal of this treatment strategy is to slow the progression of aortic dilation and prevent any damage to heart valves by eliminating heart arrhythmias, minimizing the heart rate, and lowering the person’s blood pressure. […] If the dilation of the aorta progresses to a significant-diameter aneurysm, causes a dissection or a rupture, or leads to failure of the aortic or other valve, then surgery becomes necessary. […] Today, cardiovascular symptoms of Marfan syndrome are still the most significant issues in diagnosis and management of the disease, but adequate prophylactic monitoring and prophylactic therapy offers something approaching a normal lifespan.

• #65 Marfan Syndrome – GenTAC Alliance

  https://www.gentacalliance.org/conditions/marfan-syndrome/

  Individuals with Marfan syndrome may need these tests more often if their aorta is large or getting to the point where doctors think they may need surgery. […] People with Marfan syndrome may be given medications to slow the rate of aortic growth. […] Once the aorta reaches 5 cm, aortic root replacement surgery is recommended. […] Individuals suspected of having Marfan syndrome should also have tests to identify Marfan features that cannot be seen during the physical exam. […] Pregnancy increases stress on the heart and blood vessels. This can be especially dangerous in women with Marfan syndrome. […] Individuals with Marfan syndrome should know the symptoms of acute aortic dissection; during pregnancy, aortic dissection may occur even when the aorta is not enlarged, and can occur several days after delivery.

• #66

  https://www.aao.org/eye-health/diseases/what-is-marfan-syndrome

  Other Marfan syndrome symptoms involving the eye include: thinning or abnormal shape of the cornea, early onset of cataracts (clouding of the eyes normally clear lens), glaucoma (high pressure inside the eye that can lead to vision loss), strabismus (when the eyes are not aligned properly and point in different directions), retinal detachment (when the light sensitive tissue peels off from the back of the eye). […] Marfan syndrome can cause several different eye disorders. You should see an ophthalmologist regularly. Your ophthalmologist can treat many of the eye problems associated with Marfan syndrome. […] Having Marfan syndrome also puts you at higher risk for several eye diseases. You may develop cataracts at a younger age with Marfan syndrome. If cataracts do develop, cataract surgery can improve your vision.

• #67

  https://www.aao.org/eye-health/diseases/what-is-marfan-syndrome

  You are also at higher risk for developing glaucoma. Several glaucoma treatment options are available. […] Most people with Marfan syndrome need a strong prescription for glasses or contacts to correct refractive errors like nearsightedness and astigmatism. […] Marfan syndrome puts you at higher risk for having a retinal detachment. Be aware of the symptoms of retinal detachment. Seek immediate help from your ophthalmologist if you have any of the signs of a detached retina. […] Signs of retinal detachment include a sudden onset of: floaters (small specks, dots, circles, lines or cobwebs in the field of vision), flashes (flashing lights or lightning streaks in the field of vision), dark shadows in your peripheral (side) vision.

• #68 Marfan syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/marfan-syndrome

  Marfan syndrome can be mild to severe, and may become worse with age, depending on which area is affected and to what degree. […] If the heart valves are affected, blood may seep backwards and place extra strain on the heart. The heart may then enlarge to cope with the extra workload. Other common problems include spinal curvature (scoliosis) and nearsightedness. […] There is currently no cure for Marfan syndrome. Depending on which body parts are affected and to what degree, regular monitoring and treatment options may include: lifestyle changes, regular echocardiogram tests to monitor heart and aorta size and function, regular eye examinations and treatment, regular check-ups to monitor the skeleton and offer corrective treatment if necessary. This is particularly important during the growth spurt of puberty, medication, such as beta-blockers, to reduce blood pressure and relieve the strain on the cardiovascular system, measures such as a course of antibiotics to prevent infection prior to any type of surgery involving the teeth, genitals or urinary system to reduce the risk of heart valve problems, including infection (endocarditis), heart surgery, such as surgical repair of valves and aorta.

• #69 Marfan Syndrome | University of Utah Health

  https://healthcare.utah.edu/cardiovascular/conditions/marfan-syndrome

  Because of the wide range of Marfan syndrome symptoms, your care involves a diverse team of specialists. […] Marfan syndrome can lead to a shorter lifespan. Treatment with a multispecialty team of experts can significantly improve your life expectancy. Your treatment team will help you understand how your symptoms and the potential complications of Marfan syndrome could affect your lifespan.

• #70 Marfan Syndrome – GenTAC Alliance

  https://www.gentacalliance.org/conditions/marfan-syndrome/

  An individual with Marfan syndrome is at much greater risk for an aortic dissection than the general population. It is important to know the signs of an aortic dissection and what to do. […] Signs and symptoms of acute aortic dissection may include: Sudden onset, severe or sharp chest, back, neck/head, or abdominal pain. […] Knowing that someone has Marfan syndrome help if they have unexplained chest, back, or abdominal pain.

• #71 Marfan syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/diagnosis-treatment/drc-20350787

  In the past, people who had Marfan syndrome often died young. […] With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span. […] The vision problems associated with a dislocated lens in your eye often can be corrected with glasses or contact lenses. […] You may need to avoid competitive sports and certain recreational activities if you’re at increased risk of aortic dissection or rupture. […] Living with a genetic disorder can be extremely difficult for both adults and children. […] And they may worry about passing the defective gene to their children. […] But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of childhood and adolescence may be exacerbated by the disease’s effect on appearance, academic performance and motor skills. […] For example, children with Marfan syndrome may struggle in school because of vision problems that can be corrected with glasses or contact lenses.

• #72 Marfan Syndrome: Symptoms, Treatment, Life Expectancy

  https://www.verywellhealth.com/marfan-syndrome-5113945

  People with Marfan syndrome also have a much higher risk of certain other eye problems. These may occur at an earlier age than they typically would in people without Marfan syndrome. […] Skeletal issues are also common with Marfan syndrome. Some of these problems can lead to chronic pain and fatigue. […] Some people have a severe version of the disease which is obvious at birth or early in infancy. In others, more subtle signs and symptoms might not appear until later in childhood or even adulthood. […] Some people with Marfan syndrome also experience depression or other psychological challenges from dealing with their condition.

• #73 Marfan syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/diagnosis-treatment/drc-20350787

  In the past, people who had Marfan syndrome often died young. […] With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span. […] The vision problems associated with a dislocated lens in your eye often can be corrected with glasses or contact lenses. […] You may need to avoid competitive sports and certain recreational activities if you’re at increased risk of aortic dissection or rupture. […] Living with a genetic disorder can be extremely difficult for both adults and children. […] And they may worry about passing the defective gene to their children. […] But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of childhood and adolescence may be exacerbated by the disease’s effect on appearance, academic performance and motor skills. […] For example, children with Marfan syndrome may struggle in school because of vision problems that can be corrected with glasses or contact lenses.

• #74 Marfan Syndrome | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/marfan-syndrome

  The most common and serious heart problem in people with Marfan syndrome is aortic dilation (aneurysm), a stretching and weakening of the aorta. It can lead to a bulge, tear, or leak in the aorta, which can be life threatening. Some patients with Marfan syndrome can also develop leakage of the mitral valve. […] People with Marfan syndrome can lead normal lives. Treatments for Marfan syndrome are continually being refined, with long-term outcomes constantly improving. Still, those with Marfan syndrome need lifelong monitoring and possibly medication because they will always be at some risk for other heart problems.

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