A 35 year old athlete has height 184 cm., arm span 194cm., pulse rate 64/min., BP 148/64 mm Hg. Chest ausultation reveals long diastolic murmur over right 2nd intercostal space on routine examination. The probable diagnosis is :
Correct Answer: Aortic regurgitation
Description: Ans. is 'a' Aortic Regurgitation Tall athelete with long arms and long diastolic murmur (of aortic regurgitation) over right 2nd intercostal space suggests the diagnosis of "Marfan's syndrome"Marfan's syndrome: It is characterised by a triad of Abnormality.Long thin extremities frequently associated with other skeletal changes.Reduced vision as the result of dislocation of lensesAortic Aneurysms that typically begin at the base of the Aorta. if the dilatation occurs at the root of the Aorta it can lead to Aortic regurgitation .Marfans Syndrome : Characterstic findings*Skeletal changes of Marfan's syndrome :Patients are usually tall*Have long limbs*The ratio of upper segment to lower segment is usually 2 SDs below the mean for age, race & sex.Arachnodactyly (fingers are long and slender spider like in appearance)*Pectus Excavation, Pectus Carinatum. *Scoliosis, Kyphosis*cardiovascular changes*Mitral valve prolapse & *Mitral valve prolapse progresses to Mitral valve Regurgitation Aortic Aneurysm occurs it can lead to Aortic Regurgitation, Dissection of Aorta & Rupture. *Ocular changes*Dislocation of the Lens*Elongation of globe (Myopia)*Retinal detachment. *Associated changesSpontaneous pneumothorax*Inguinal & incisional hernias*Striae may occur over the shoulders & buttocks.
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