Sunday, July 13, 2008

Marfan syndrome



Always kept for exams for both medical students and MRCP exams.
Always look for this in the CVS station so you'll never miss it. It may also come out in Station 5 for MRCP candidates.

This patient is tall and has presence of arachnodactyly. There is positive wrist sign and steinberg sign. There is also presence of collapsing pulse and corrigan's sign. There is no evidence of disloaction of the lens. He has high arched palate and the chest does not show pectus excavatum or carinatum. There is no stigmata of IE.
The JVP is not raised and there is no pedal oedema. There is no scar on the precordium. The apex is displaced at 6th ICS at L MCL. No parasternal heave, no thrills. Normal 1st and 2nd HS. There is a Grade 3 EDM @ LSE best heard on expiration and sitting forward.

My diagnosis is that this patient has Moderate AR 2 to Marfan syndrome. I would like to look for other signs of AR eg Quincke, de Musset, pistol shot....

What's your differential diagnosis ?
Homocystinuria

What other valve lesions would you suspect in Marfan syndrome patients ?
MVP

What is the inheritance ?
AD

What investigations would you do ?
ECG, CXR, Echo

What is the Echo criteria for valve replacement in AR pt ?
symptomatic, LV end systolic diameter >5.5 cm or LVEF < 50%

If you are allowed to do one test for a patient with AR without Marfan, what test would it be ?
VDRL

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