Definition Of The Marfan Syndrome Excerpt from The Marfan Syndrome, by Reed E. Pyeritz, M.D., Ph.D. and Cheryll Gasner, M.N., C./F.N.P. Fourth Edition, May, 1994 The Marfan syndrome is a medical condition and is classified as a heritable disorder of connective tissue. Connective tissue (including the extra-cellular matrix) is the glue and the scaffolding of the body, but is important in many more functions as well, such as development before birth, growth after birth, cushioning of joints, and enabling passage of light through the eye. All organs contain connective tissue, and the manifestations of the Marfan syndrome appear in many parts of the body, especially in the bones and ligaments (the skeletal system), the eyes (the ocular system), the heart and blood vessels (the cardiovascular system), the lungs (the pulmonary system), and the fibrous membrane covering the brain and spinal cord (the nervous system). The condition is named after a French pediatrician, Antoine Marfan, who in 1896 described a 5-year-old girl whose arms, legs, fingers and toes were disproportionately long and thin, whose muscle development was poor, and whose spine curved abnormally. Subsequent physicians described other patients with similar skeletal changes as well as eye problems. By the early part of the Twentieth Century, as a form of medical shorthand, Marfan's name became commonly used to refer to individuals who seemed to be affected by this condition. The term "syndrome" refers to the fact that a group of physical signs or changes occur together often enough for a pattern to be recognized. This pattern is essential in understanding the cause of this syndrome, in predicting the medical course of affected individuals and in devising forms of treatment. There are over 200 different heritable disorders of connective tissue, including a few which closely resemble the Marfan syndrome. They are termed "heritable" because all have their basis in a change (mutation) in one gene or another and, because relatives have genes in common, these conditions may affect more than one person in a family. Not all are inherited in the same pattern as the Marfan syndrome. |
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Physicians may give another name for this disease. The synonyms listed below may also be used when referring to Marfan's or related disorders. Arachnodactyly Contractural Arachnodactyly Dolichostenomelia Marfanoid Hypermobility Syndrome |
How is the Marfan syndrome diagnosed? Marfan syndrome is diagnosed based on a thorough physical examination of various body systems and a detailed family history. Certain tests such as an echocardiogram of the heart and a detailed eye examination by an ophthalmologist provide valuable information in the evaluation of patients for the Marfan syndrome and other related connective tissue disorders. |
Is there a specific laboratory test that can be done to diagnose the Marfan syndrome? There is no specific diagnostic laboratory test commercially available to determine if someone has Marfan syndrome. The diagnosis is based on clinical findings and past medical history while taking into account family history. |
What kind of tests and information is usually needed to diagnose Marfan's? A thorough evaluation for the Marfan syndrome would include: 1. Echocardiogram with color/doppler. 2. Cardiology appointment to interpret the echocardiogram and evaluate cardiovascular status. 3. Ophthalmology appointment that includes a dilated slit lamp eye examination to determine whether ocular features of the Marfan syndrome are present. 4. Genetics appointment that includes review of detailed medical and family history, complete physical examination, review of outside medical records and genetic counseling. Other records that might be of interest are EKG (If heart rhythm abnormalities are suspected), written reports/films of CT scans or MRI's of the chest and abdomen, back or spine x-rays or MRI's, due to the high incidence of scoliosis and occasional problems with dural ectasia (a swelling of the thin membrane that hold the cerebrospinal fluid and the spinal cord), and perhaps dental records/summaries, as Marfan's affected tend to have high palates and crowded teeth. |
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What is Marfan's? |
