Diagnosis Of Marfan Syndrome Medical Health Care Diagnosis


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Marfan Syndrome Diagnosis

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About Marfan Syndrome: Diagnosis

Although the gene for the Marfan syndrome has been found, there is no simple blood test or skin biopsy to make the diagnosis. The diagnosis needs to be made after examinations by a number of doctors, including a doctor who specializes in bones (orthopedists), eyes (ophthalmologist) and heart (cardiologist), as well as a medical geneticist (a doctor with special knowledge about inherited diseases). The exam includes:

information about any family members who may have the disorder or who had an early, unexplained heart-related death

a thorough physical examination, including an evaluation of the skeleton for the ratio of arm/leg size to trunk size and other changes that affect the bones and joints

an eye examination, including a "slit lamp" evaluation by an eye doctor (ophthalmologist) after fully dilating the pupil

heart tests such as an echocardiogram (a sound-wave picture) by a heart doctor (cardiologist) used to examine the heart valves and aorta.

One doctor should coordinate the findings from all examinations. The medical geneticist most commonly handles this.

The doctor may diagnose the Marfan syndrome if the patient has a family history of the condition and there are specific problems in at least two of the body systems known to be affected. For a patient with no family history of the disorder, at least three body systems must be affected before a diagnosis is made. In addition, two of the systems must show clear physical signs that are relatively specific for the Marfan syndrome.

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EditText of this page (last edited January 2, 2008)