Marfan’s syndrome: causes, symptoms and treatment

How is Marfan’s syndrome diagnosed?

Due to the variety of symptoms, Marfan’s syndrome is often not easily recognizable. As this is a hereditary disease, a family history can provide a first guide. The changes in the skeleton and body structure that are typical for the disease are also revealing. The so-called wrist sign, for example, plays a role here as a diagnostic test: If a patient grabs the wrist of the other arm with his thumb and little finger, the two fingers usually overlap if Marfan’s syndrome is actually present.

Heart examination provides additional guidelines. For example, a stethoscope can be used to detect cardiac arrhythmias and heart murmurs due to defective heart valves. If Marfan’s syndrome is suspected, cardiac ultrasound (echocardiography) is also required. This allows not only a closer examination of heart valve defects, but also the detection of typical changes in the aorta.

Important in Marfan’s syndrome: Follow-up

Heart ultrasound, along with other imaging methods such as computed tomography (CT) and magnetic resonance imaging (MRI), is also part of regular Marfan syndrome checkups. These are necessary to prevent potentially life-threatening complications such as rupture of the dilated aorta.

The final diagnosis of Marfan’s syndrome is usually based on the so-called Gent criteria. This includes 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 that examines the genome for mutations in the fibrillin-1 gene.

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