Study note

Marfan syndrome: diagnosis and aortic surveillance

THE CONTEXT

Investigations confirm a clinically suspected diagnosis and assess aortic and valvular involvement.

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The diagnosis is usually suspected from characteristic clinical features and can be confirmed by genetic testing.

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Chest X-ray may show aortic dilatation, but echocardiography is more sensitive and can also demonstrate valvular disease.

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Patients should undergo serial echocardiographic monitoring of the aortic root.

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Elective surgery should be considered if aortic root dilatation is observed.

NEETx

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