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Marfan Syndrome: When should you get an echo?

User CaTx
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Final answer:

Individuals with Marfan Syndrome should get an echocardiogram at the time of diagnosis and follow up with regular monitoring based on initial results and symptoms. Loeys-Dietz syndrome, related to Marfan, also necessitates similar monitoring due to vascular risks.

Step-by-step explanation:

Marfan Syndrome is a genetic disorder that affects the body's connective tissue, and it is characterized by abnormalities in the protein fibrillin. One of the primary concerns in individuals with Marfan Syndrome is the impact on cardiovascular health, particularly the aorta. Hence, an echocardiogram (echo) is recommended to assess the size and functioning of the heart and aorta. Echocardiograms are important for the initial diagnosis and regular monitoring of the condition.

It is advised that individuals with Marfan Syndrome have a baseline echocardiogram upon diagnosis. After this initial test, the frequency of subsequent echocardiograms will depend on the findings and the presence of symptoms. For those with known aortic enlargement or other cardiac issues, an echo may be recommended every 6 to 12 months. Other individuals might only require an echocardiogram annually or less often if their condition is stable.

Loeys-Dietz syndrome, which is related to Marfan syndrome but with a particular focus on vascular deterioration, also necessitates regular monitoring with echocardiograms. Following a similar protocol as with Marfan Syndrome is important in managing the risks associated with Loeys-Dietz syndrome, especially considering the high risk of aortic aneurysms and dissections.

Individuals with Marfan Syndrome should get a baseline echocardiogram at the time of diagnosis. Regular monitoring with echocardiograms should then follow based on the initial results, presence of symptoms, and guidance from a healthcare professional.

User David Eisenstat
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