Question: Do you know anything about congenital heart defect?

Cristina Villa del Campo answered on 9 Nov 2015:

Hi!

I do know a little bit about congenital heart disease. Congenital means basically that we are born with it. Usually congenital disease refer to genetic congenital disease, those caused by mutations.
So congenital heart disease is whatever heart disease you are born with, usually genetic.
I study the heart during embryonic development. It is amazing! In the embryo the heart starts very different from what we have when we are born and a lot of things happen, new cells are added, the vessels are formed, the heart even loops! All of these processes happen because genes are “turned on” in the cells when they need to change. If a gene does not activate properly or if it is mutated the cell won’t do what is supposed to do. The effect of that can be very dramatic and the heart is not formed or it can be quite mild. Many people with mutations that affect heart development are able to have a normal life, although their hearts many times are a little bit different and more sensitive, so they just have to have extra care and, in some cases surgery. Is there anything else you want to know?