Page 1 of 1: A28 year old man.............

anand_parsns · Credits: 645 My Scrapbook

A 28 year old man has a family history of sudden cardiac death at a young age. Physical examination shows an ejection systolic murmur that decreases in intensity when the patient lies down and increases in intensity when the patient stands up . An ECHO shows abnormal anterior movement of the mitral leaflet against an asymetrically thickened interventricular septum. What is ur diagosis ???

This is a very easy one......if you can give the reasons for ur answer it wouuld be better...........!

albus · Credits: 171 My Scrapbook

hello!! i think the patient has HOCM(i.e IHSS).the history,examination n echo-everything fits..
idiopathic hypertrophic subaortic stenosis-
cause-usually inherited(i dont know the gene),seen in athletes.
there is family history of sudden deaths at ayoung age due to arrhythmias.unfortunately,sudden death is the first feature.
thickened septum blocks lv outflow tract-so ejection systolic murmur. and the mitral valve gets pushed so abnormal movement on echo.the changing pattern of murmur with posture is due to difference of pressure gradients between ventricle and aorta---the murmur occurs when pressure gradient is more...

am i right???

albus · Credits: 171 My Scrapbook

the genetics---AD trait,many are de novo mutations.about 400 different mutations in the sarcomere proteins have been found.
45% of these are in beta-myosin heavy chain on chr.14
35% involve cardiac myosin binding protein c gene.

anand_parsns · Credits: 645 My Scrapbook

u are absolutely right and the substantiation perfect ......... the case has HOCM.... its a typical one.....i.f u are interested in discussin more of cases do join my forum..

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