Marfan syndrome: causes, symptoms and treatment

How is Marfan syndrome diagnosed?

Due to the variety of symptoms, Marfan syndrome is often not easy to recognize. Since it is a hereditary disease, a family history can provide initial clues. Also relevant are the changes in the skeleton and body structure typical of the disease. The so-called pulse sign, for example, plays a role here as a diagnostic test: if the patient grasps the wrist of the other arm with the thumb and little finger, the two fingers usually overlap if Marfan syndrome is actually present.

A heart exam provides further clues. The stethoscope can be used, for example, to detect heart arrhythmias and heart murmurs due to defective heart valves. If Marfan syndrome is suspected, an ultrasound of the heart (echocardiography) is also needed. This allows you not only to examine the defects of the heart valves more closely, but also to detect the typical changes in the aorta.

Important in Marfan syndrome: follow-up checks

A cardiac ultrasound, along with other imaging methods such as computed tomography (CT) and magnetic resonance imaging (MRI), are also part of the regular follow-up checkups for Marfan syndrome. These are needed to prevent life-threatening complications, such as rupture of the dilated aorta.

As a rule, the final diagnosis of Marfan syndrome is based on the so-called Ghent criteria. These include all physical and organic changes that are relevant and typical of the disease. If a number of criteria are met, the diagnosis is considered safe. It can also be confirmed by a genetic test, in which the genome is examined for mutations in the fibrillin-1 gene.

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