Case of the day

Marfan Syndrome

Marfan syndrome. Chief Complaints A 15 yr old female has come complaining of constipation and pain abdomen. O/E pt is thin built and tall stature with Height of 178 cm. Walker sign and steinberg sign along with flat foot can be seen. Rest of Examination including cardiovascular Examination is normal. Routine ix was advised which is normal. 2D ECHO done showing Bicuspid Aortic valve. Pt was referred to higher center for cardiological opinion and further opinion. Pt was examined there and ECHO was done twice where Bicuspid aortic valve was found. Then Cardiac CT Angiography was done which confirmed Tricuspid Aortic valve. Karyotyping and further ix was done showing Low Estrogen level for which pt is put on HRT. Video link posted below.. Management https://youtu.be/LxDh8AWjIBI

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An inherited disorder that affects connective tissue. Marfan syndrome affects the heart, eyes, blood vessels and bones... Caused by a mutation in a gene called FBN1. The mutation limits the body's ability to make proteins needed to build connective tissue. One in four people with Marfan syndrome develops the condition for unknown reasons. A person with Marfan syndrome has a 1 in 2 chance of passing it on to their child... Marfan syndrome are at higher risk for a shorter lifespan due to with compromised lulus function, Vision, Bones & Joints,& Cardio Vascular systems

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Nice video presentation on Marfan Syndrome.

Echo can be normal sometime in early stages of Marfan, aortic root diameter is important in female pts. Which looks to be normal. What about mitral valve? Any MVP MR ? Once in 3 years repeat Echo.

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