Marfan Syndrome

A popular spot diagnosis in MRCP station 5 or may be in CVS station. You notice this man has long fingers ( arachnodactyly).Demonstrate to examiners and convince them that the patient's fingers are long and joints are hypermobile by demonstrating thumb sign ( ask patient to clench her thumb in her fist, the thumb should not exceed the ulnar side of the hand in normal subjects)

Then, look for other signs to suggest Marfan syndrome such as high arched palate ( in this patient), upwards subluxation of the lens, kyphoscoliosis, and chest wall deformity i.e. pectus excavatum.

For the heart, remember you are likely to find either aortic regurgitation or mitral regurgitation.