“ Now that we have his genes, can my child wear soccer shorts?” Janet N Scheel, MD Pediatric Cardiology.

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Presentation transcript:

“ Now that we have his genes, can my child wear soccer shorts?” Janet N Scheel, MD Pediatric Cardiology

Disclosures I have no financial disclosures I will not talk about off –label use of any medication or medical equipement

Non-financial Disclosures I am a clinician, not a researcher

Translating Basic Science into Clinical Practice Translating Basic Science into Clinical Practice

NP + BP ? MI 50 ‘s

Hypertrophic Cardiomyopathy : Inherited disease of the sarcomere

Copyright ©2006 American Heart Association Kass, D. A. et al. Circulation 2006;113: A structural unit of the sarcomere with thick-filament cross-bridges (myosin heavy chain, MHC) shown in diastole (left) and reacting with thin-filament actin in systole (right)

Heart Muscle

HCM Gross Appearance and Histology Moss & Adams 5th edition

Hypertrophic Cardiomyopathy

Long Axis View

Normal Long Axis

Long Axis HCM

Short Axis View

Normal Short Axis

Short Axis HCM

Clinical Presentation of HCM Genetic disorder, generally autosomal dominant, prevalence 1/500 Infants and young children: Murmur, abnormal ECG Adolescents and young adults Dyspnea/chest pain with exertion Dyspnea/chest pain with exertion Syncope Syncope Sudden death Sudden death Leading cause of unexpected death in young athletes—often the first presentation Leading cause of unexpected death in young athletes—often the first presentation

Cardiac Causes of Death on Autopsy

To an Athlete Dying Young A. E. Housman 1859–1936 A. E. Housman 1859–1936A. E. HousmanA. E. Housman The time you won your town the race We chaired you through the market-place; Man and boy stood cheering by, And home we brought you shoulder-high. Today, the road all runners come, Shoulder-high we bring you home, And set you at your threshold down, Townsman of a stiller town. ………

Causes of Death in Athletes

NP + BP ? MI 50 ‘s

JF D 1315

CW

CW

There are known knowns. These are things we know that we know. There are known unknowns. That is to say, there are things that we know we don't know. But there are also unknown unknowns. There are things we don't know we don't know. Donald Rumsfeld Donald Rumsfeld Donald Rumsfeld

I hope my translation came out better than this:

Thank You “One does not discover new lands without consenting to lose sight of the shore for a very long time” Andre Gide Andre