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Marfan Syndrome

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Marfan Syndrome is an inherited connective tissue disorder where individuals are characteristically very tall, slender, have a narrow face, loose joints and associated spinal or chest wall abnormalities.

It is caused by a defect in the gene that enables the body to produce fibrillin which is a protein that helps give connective tissue its strength and elasticity. Most people with Marfan Syndrome inherit the abnormal gene from an affected parent passed on in an autosomal dominant fashion. Autosomal dominant means that only a defective gene from one parent is required to pass the disease on. Each child of an affected parent has a 50% chance of inheriting the defective gene. About 25% of cases are as a result of a mutation occurring for the first time in the egg or sperm of a parent that does not have Marfan Syndrome.

The disorder affects connective tissue comprised of fibres that provide the framework and support for the body. Marfan syndrome affects many sytems in the body since connective tissue is widespread.

It may affect the blood vessels and heart, eyes, skeleton and skin. Severity of damage varies on an individual basis ranging from mild to severe. The most serious and potentially fatal effects of Marfan Syndrome involve the Aorta which is the large artery that carries blood from the heart to the rest of the body. The connective tissue in the walls of the aorta are weakened which may lead to enlargement, tear or rupture. Marfan Syndrome is a serious condition. Fortunately, advances in treatment, early diagnosis and close, careful management makes it possible for individuals to live full productive lives.

The signs and symptoms of Marfan Syndrome vary greatly because so many body systems are affected. Some individuals have mild symptoms while others have severe effects. In most cases the condition progresses and worsens with age. The most commonly seen traits and problems associated with Marfan Syndrome include the Physical Characteristics of Tall slender build, spidery fingers and toes (Arachnodactyly), and long arms and legs which are disproportionate to the rest of the body.

Individuals may also have Scoliosis (Curvature of the spine), Loose and excessively flexible joints, An abnormally shaped sternum (breastbone) which may protrude outward (pectus carinatum) or bend inward

(pectus excavatum), A high arched palate and crowded teeth, Flat feet and a Narrow Face. In the majority

of cases the Cardiovascular system (heart and blood vessels) are affected. This involvement is the most

serious and accounts for the majority of Marfan related deaths. An aortic aneurysm may occur which is

a bulge in the vessel. The aneurysm usually originates at the point where the aorta leaves the heart and

it may extend to the abdominal portion of the aorta. Over a period of time constant pressure of the blood

passing through this weakened vessel may cause the aneurysm to further enlarge. This enlargement may become more complicated leading to aortic dissection or rupture. Aortic rupture leads to life-threatening

internal bleeding which requires immediate surgical intervention. The larger an aneurysm, the more likely the risk of dissection or rupture. Doctors check for aneurysms and monitor the size periodically.

A weakened enlarged aorta doesn’t usually cause symptoms but breathlessness may occur if there is a leak of blood back into the heart. Aortic dissection however may cause a sudden, severe stabbing or ripping pain just under the sternum that radiates to the back. Less than half of individuals with Marfan Syndrome survive an Aortic dissection. Marfan syndrome may also affect the mitral valve of the heart causing it to prolapse. This is the valve on the left side of the heart that separates the left atrium from the left ventricle. In Marfan Syndrome the valve is long and floppy and as a result fails to close completely when the left ventricle contracts. This may lead to backflow (Mitral Regurgitation) and associated breathlessness, abnormal heart rhythms (arrhythmias), endocarditis (valve infection) and congestive heart failure.

Most individuals with Marfan Syndrome have problems with their eyes and vision. They often are nearsighted (Myopic), may have Dislocation or shifting of the lens in one or both eyes due to weak suspensory ligaments, Glaucoma (high pressure in the eye), Cataract (cloudy lens) and Retinal Detachment. Unusual bone growth and weak ligaments lead to problems such as scoliosis (curvature of the spine which may be “S” or “C” shaped), Spondylolisthesis where one spinal vertebra slips forward over another leading to back pain and stiffness and foot pain as a result of delicate feet. Individuals with Marfan Syndrome develop stretch marks because the skin lacks the proper connective tissue to keep it resilient. These marks usually develop over areas of stress such as the shoulders, hips and low back. Dural Ectasia describes the weakening and expansion of the Dura which is the membrane (composed of connective tissue) that encloses the brain and spinal cord. With time the enlarged membrane may press on the lower vertebrae of the spine leading to low back pain and possibly abdominal pain, headache and pain or numbness in the legs.

Marfan syndrome is one of the most common of over 100 inherited connective tissue disorders. It affects men and women equally and it occurs in all races and ethnic groups. A team of specialists are usually required to evaluate and manage individuals with Marfan Syndrome. Specialists include Ophthalmologists, Orthopaedic Surgeons, Cardiologists and Medical Geneticists. Treatment is given based on signs, symptoms and presentation.

Clinical history, Family history, Physical examination and Medical investigations are required to make a diagnosis.

Women with aortic aneurysms are advised not to get pregnant because there is an increased risk of aortic dissection and rupture during pregnancy.

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