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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Do Flat Feet, Mild Scoliosis, Retinal Problem And Heart Murmur Suggest Marfan Syndrome?

My daughter has flat feet, mild scoliosis, a retinal problem, congenital heart murmur with recent palpitations, sleep problems . She is very smart, very musically talented and of average height, weight and skeleton. Should I be concerned about marfan syndrome? If so, what kind of testing would be warranted?
Mon, 3 May 2021
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Gastroenterologist,  's  Response
Hi,

Please note that Marfan Syndrome can have variable presentation and it is difficult to diagnose before pubertal age. You did not mention your daughter's age. Also is there a family history of such disease? Retinal problem usually does not occur in Marfans (it is lens that is affected).

However, there is specific scoring system to diagnose Marfan Syndrome for which you need to visit a clinician. Possible tests will include an echocardiography, a genetic testing (FBN1 mutation), slit lamp examination of eye, X-rays of hands / feet.

Take care. Hope I have answered your question. Let me know if I can assist you further.

Regards,
Dr. Mohammed Abu Sayeed Mustafa, General & Family Physician
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Do Flat Feet, Mild Scoliosis, Retinal Problem And Heart Murmur Suggest Marfan Syndrome?

Hi, Please note that Marfan Syndrome can have variable presentation and it is difficult to diagnose before pubertal age. You did not mention your daughter s age. Also is there a family history of such disease? Retinal problem usually does not occur in Marfans (it is lens that is affected). However, there is specific scoring system to diagnose Marfan Syndrome for which you need to visit a clinician. Possible tests will include an echocardiography, a genetic testing (FBN1 mutation), slit lamp examination of eye, X-rays of hands / feet. Take care. Hope I have answered your question. Let me know if I can assist you further. Regards, Dr. Mohammed Abu Sayeed Mustafa, General & Family Physician