Marfan Syndrome Definition
Marfan syndrome is a disorder of connective tissue, which occurs due to genetic abnormalities. Connective tissue is a tissue that serves as a support or connection between organs of the body, including bone structure. Any disruption that occurs in connective tissue, will have an impact on the entire body.
Marfan syndrome can affect anyone, both male and female, in any age range. This disorder is rare, which is in every 1 in 5000 people.
Marfan Syndrome Symptoms
Symptoms of Marfan syndrome vary greatly. Some sufferers only experience mild symptoms, but in others, the symptoms can be dangerous. The following symptoms may appear in childhood or near adulthood:
- Tall, thin and abnormal looking body.
- The shape of the legs is large and flat.
- The shape of the arms, limbs, and fingers and toes are long or disproportionate.
- The joints are weak.
- Problems with the spine, such as scoliosis.
- The sternum protrudes outwards or concaves inwards
- The lower jaw is visible
- Irregularly stacked teeth.
- Eye disorders, such as glaucoma, nearsightedness (myopia), cataracts, lens shifts, and retinal detachment.
- Stretch marks on the shoulders, lower back, and pelvis.
- Heart and vascular disorders, such as bleeding due to rupture of large arterial blood vessels (aorta) or heart valve disease.
Marfan Syndrome Risk Factors
Marfan syndrome can affect both men and women. The disease can also occur in all racial and ethnic groups. Because it is a genetic condition, the biggest risk factor for Marfan syndrome is having a parent or family member who has the disease.
Marfan Syndrome Causes
Connective tissue is formed by a number of proteins. The protein associated with Marfan syndrome is fibrillin-1. In Marfan syndrome, there will be mutations in genes that play a role in the formation of fibrillin-1. This mutation will then lead to an increase in TGF-β proteins, resulting in connective tissue problems throughout the body manifested with the symptoms of Marfan syndrome.
The chances of Marfan syndrome reaching 50 percent for each child of Marfan syndrome.
Marfan Syndrome Diagnosis
Determination of the diagnosis of Marfan syndrome can be done by digging for medical information and direct physical examination. In medical interviews there can be found a family history with this syndrome.
Various disorders can be complained about by the sufferer, such as eye, heart, and lung disorders. Sufferers can also complain of visual impairment, spinal impairment, and abnormal chest shape.
On physical examination can be found some physical abnormalities such as long finger shape, disorders of the shape of the chest cavity such as pectus carinatum (chest wall, leaning out), spinal disorders in the form of scoliosis, and heart valve disorders. Photo examination of the spine and echocardiography needs to be done to see the degree of abnormalities that occur. To support the diagnosis of Marfan syndrome, genetic testing can also be performed.
Marfan Syndrome Complications
Since Marfan syndrome can affect almost any part of the body, it may cause a wide variety of complications in infants and children.
The most dangerous complications of the syndrome involve the heart and blood vessels. Defective connective tissue is able to weaken the aorta or a large artery that flows from the heart and supply blood to the body.
Blood pressure, leaving the heart is able to cause the aortic wall to bulge, such as a weak point on a vehicle’s tire.
Aortic walls are made of various layers. Aortic dissection occurs when a small tear inside the inner layer of the aortic wall allows blood to press between the inner and outer wall layers.
This causes excruciating pain in the baby’s chest or back. Aortic dissection weakens the structure of vessels and can result in possible deadly tears.
Marfan syndrome sufferers are also more prone to problems with heart valves that may be deformed or too elastic.
When the heart valves do not work properly, the heart often has to work harder to replace them resulting in heart failure.
Eye complications in infants may include:
- Dislocation of the lens of the eye
- Retinal disorders
- Early glaucoma or cataracts.
Marfan syndrome also increases the risk of unnatural curves of the spine, such as scoliosis.
Marfan syndrome can also inhibit the development of normal ribs that are at risk of causing the sternum to protrude or appear to sink into the chest.
Leg and lower back pain are also often experienced by patients with Marfan syndrome.