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Some times you don't need a genetic test.

Posted Oct 22 2008 6:18pm

post to news.thinkgene.com

Before I head home post call I want to talk about an important case I saw early this morning. I was in the emergency department admitting this poor gentleman who had developed something called angioedema. He had just started a new medication for his blood pressure called anACE inhibitor. There is some thought that this reaction is brought about by a genetic predisposition. We do have examples ofhereditary angioedemaand the mechanism for this man's angioedema is likely very similar.


While seeing him and having the Ear, Nose and Throat doctor secure his airway with acricothyrotomy(a hole cut into the neck to insert a breathing tube) an emergency room tech runs and hands me an EKG. He says "This patient is having a heart attack"


The hallmark findings of heart attack on ekg were indeed there, however there was something more. He was brought into the emergency department not for chest pain, but this 26 year old man came to the ED because he was involved in a bar fight and was drunk. He had a huge bump on his head. Normally the treatment for a heart attack is blood thinners like aspirin. If I hadn't looked at the EKG closely I would have given him these thinners.


No, what this young man had was not a heart attack. He had a condition called Brugada Syndrome (A genetic heart disease). This condition causes sudden cardiac death and placing anAutomatic Intra-Cardiac Defibrillatorcan be lifesaving. Much more so than thinning his blood and risking a bleed in his head. But what would have happened if I didn't read the EKG? Brugada syndrome isn't rare (I saw 2 people with it last month) However, if you have not seen it. You can mistake the EKG for a heart attack. That would have been a costly error in this patient who did have some blood in his brain.


The Sherpa Says: If you have sudden death in your family, please go get an EKG. You never know what you might find. More importantly, what you might prevent. You never know when genetics will show up and the better prepared you are the better care you get. Even in an emergency, genes matter................
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