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Rare Disease Forum by Genetidoc Genetic Clinic › Forums › Genetic Rare Diseases › Marfan Syndrome › How often should someone with Marfan syndrome have heart and eye check-ups?

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      Anonymous
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      How often should someone with Marfan syndrome have heart and eye check-ups?

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      Regular check-ups are important because changes linked to Marfan syndrome can develop without obvious symptoms. One of the main concerns is the aorta, the large blood vessel that carries blood away from the heart. In some people, the aorta gradually widens. This usually does not cause pain or make someone feel unwell at first, so imaging is needed to monitor it.

      An echocardiogram is an ultrasound scan that lets doctors examine the heart and measure part of the aorta. After diagnosis, a cardiologist may recommend another scan in about six months to check whether the aorta is changing. If it remains stable, scans are often done at least once a year. If it is widening or there are other concerns, scans may be needed more often. A CT or MRI may also be recommended to examine parts of the aorta that an echocardiogram cannot show clearly.

      Eye examinations are important as well. An eye specialist can check whether the lens has shifted and look for short-sightedness, retinal problems, glaucoma, or cataracts. The schedule depends on the person’s age and findings. Ask the cardiologist and eye specialist how often check-ups are needed, and keep appointments even when there are no symptoms.

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