A highlight from Prof. Cheryl Maslen, who is professor of medicine at Oregon Health & Science University
My guest today is shouldn't maslin. Who is professor of medicine. At oregon. health and science university research focuses on the genetic basis of cardiovascular defects with the focus on rare disorders to create the increase of these tracks in particular syndrome and down syndrome. But i'm sure thinking. Yeah thanks for doing so. I want to start with one of your recent papers. Identifying genetic factors that contribute to the increased risk of congenital heart defects in insensitive dump central. So down syndrome obviously That got people know-alls And this is if you have down syndrome. Then the probability of having this defect is significantly. Increase right to set the is idea. It's usually increased particularly for the congenital heart defect that we refer to as an atrial ventricular central effect which is basically a big hole in the heart. If you think about What you learned about the heart as early as grade school. You know that it's divided into four chambers that the blood flows from chamber to chamber and it goes in An oxygenated and the hearts helps it with oxygen and then it goes back out to the rest of the body to provide another other nutrients and so if there isn't a separation in the heart if that somehow doesn't form properly Then you don't get mixing of the two types of blood from babies can be what we call blue babies where their skin especially around their nails and lips turns blue because they're not getting enough oxygen to their tissues so It's a very very rare occurrence in the general population but in down syndrome. Up to around thirty percent of those have a complete atrial ventricular central defect but up to fifty percent of them. Have some other form of defect in the heart that disrupts the separation of the chambers of the heart. So that's a huge increase over what we see in the general population. So if you have the you don't survive a book if you have a you can survive at birth Many years ago that was not the case but these days the surgical interventions are such that these children can and are saved and So surgery to repair the heart and they can go on to leads Relatively normal lives for somebody with down syndrome Although some of them remain at risk throughout their lives for problems with their heart. And um we don't really understand why that is some of it may be that surgery although repairs the problem may also cause Some some damage when it's being done.