Marfan Syndrome (called so after the French pediatrician Antoine Marfan who was the first person to describe the condition in 1896) is a connective tissue disorder. The connective tissue provides structural support to the tissues and organs of the body and any disorders pertaining to it affect the eyes, skin, cardiovascular system and the skeletal system.
Marfan Syndrome is, by and large, a genetic disorder caused by the malfunctioning of a gene called fibrillin-1(officially symbolized as FBN1) which plays a vital role in the building the elastic tissues in the human body.
Francesco Ramirez, a US based scientist, was the first person to link the FBN1 to Marfan syndrome in 1991.
The FBN1 gene is responsible for making a protein which triggers and affects the repair and growth of tissues throughout the body. When it fails to function properly, the process of tissue growth is severely hampered and the following areas of the body get affected:
• The aorta (the main artery that carries oxygenated blood from the heart to the various organs of the body), causing it to become weak and resulting in a condition called aortic dilation.
• Lung tissue
• The skin
• The eyes, causing complications like cataracts, etc.
• Tissues that cover the spinal cord
• The skeletal system, causing abnormal growth of the bones of the body. This manifests as unusually long limbs, long and thin fingers and very tall height.
70% of the reported cases relating to Marfan syndrome are genetically transmitted i.e. inherited from either of the parents. Since it is a dominant trait, there is a strong possibility that a person inheriting even 1 affected gene will be afflicted by Marfan syndrome. The remaining 30% cases are ‘sporadic cases’, having no family history. They are caused by a new spontaneous genetic deformity.
Symptoms of Marfan Syndrome
The most noticeable symptom of Marfan syndrome is long and thin spider-like fingers (called arachnodactyly) and arms and legs which are disproportionately long as compared to the rest of the body.
Other indicants of Marfan syndrome are:
• Funnel chest, or a sunken chest (pectus excavatum) or a pigeon breast that sticks out (pectus carinatum)
• Hypermobile joints
• Flat feet
• Learning disabilities
• Highly curved palate, small lower jaw and crowded teeth
• Dislocation of the lens of the eye from its usual position
• Myopia (or, shortsightedness)
• A very lean and bony face
Signs and tests related to Marfan Syndrome
The doctors need to carry out a physical exam to look for:
• Unusually flexible joints
• Irregular dilation or widening of a part of an artery due to weakened walls of the blood vessel ( a condition called aneurysm)
• Problems related to the valves of the heart
• Collapsed lung
• Detachment of the retina, problems related to vision (caused by cataracts or myopic vision) and complications related to the cornea or the lens.
Tests which need to be carried out to confirm or rubbish the doubts relating to the presence of Marfan syndrome include the ECG (or, Echocardiogram) and, in rare cases, Fibrillin-1 mutation test. An ECG should be carried out at least once every year to examine the base of the aorta.
Treatment of Marfan Syndrome
To prevent cardiac problems, medicines have to be taken to slow down the heart rate. This will avoid stress to the aorta.
For problems related to eyes and vision, a good oculist should be consulted.
Pregnant women with Marfan syndrome need to be monitored at close quarters, because of the heightened stress on the aorta and the heart.
To prevent inflammation of the endocardium and the valves of the heart, people affected by Marfan syndrome must take appropriate antibiotics before any dental treatments.
To prevent a curving spine, special care has to be taken during the growing years i.e. adolescence.
Though most people affected by the Marfan syndrome lead more or less normal lives and might well live to be sexagenarians, cardiac complications are likely to shorten their lifespan by a few years. The good news, however, is that owing to advancements in medical science, most complications can be avoided by taking good care and taking the required medicines regularly.
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