Congenital Heart Disease

We are going to talk about congenital heart disease. Congenital heart disease represents about 1% of all live-born children; 8:1,000 of live-born children will have some form of congenital heart disease of varying severity. Some cases are very very mild and cause no problems throughout the life-span. Others are very severe and cause some compromise at birth. We are actually aware of some children with congenital heart disease by fetal ultrasound. Of those congenital heart diseases, 1% of live-born children, approximately 20% of those babies with congenital heart disease will have a form of cyanotic congenital heart disease, and we are going to focus on that primarily during this discussion.

In terms of etiologies, just doing some overview; as far as etiology of congenital heart disease, we think of primary genetic factors and of course this category is growing – and we are excited about that as the molecular biologists and geneticists are identifying more and more genetic factors with regards to etiology of congenital heart disease. There is a group where we know the etiology is related to some primary environmental factors and the largest category, however, are those diseases that we have no clear-cut genetic or environmental factor as etiology but perhaps some interplay of those two factors.

Here are some associations with autosomal dominant syndromes and the type of congenital heart disease that we see in association. For example, we’ll talk about tetralogy of Fallot and tetralogy of Fallot is related to – or may be related to – Apert’s syndrome. As we look down this list we will see that … we will talk about coarctation for example and its association here. As we look through this list we can see that there are a number of associations with these known autosomal dominant anomalies. Another of these lists is related to these x-linked recessive and dominant syndromes, including Hunter’s and Hurler’s for example, where we may find coronary artery disease for example associated with Hunter’s. We have a patient in the hospital right now with Duchenne’s muscular dystrophy who has a severe cardiomyopathy. Again, some other associations that you might want to familiarize yourself with, looking through these tables.

In this one we talk about some of the selective chromosomal aberrations and some that are familiar to you. Cri du chat for example, with the most common lesion being a ventricular septal defect, patent ductus being second, and ASD. These congenital heart diseases occur in about 25% of the patients with cri du chat. Trisomy 18 for example, the majority of these patients – 99% of them – will have some form of congenital heart disease and most commonly a ventricular septal defect. Trisomy 21, for example – you are very familiar with – about 50% of those patients will have congenital heart disease in the form of ventricular septal defect as the most common, atrial ventricular septal defect or AV canal or endocardial cushion defect and ASD, just to name some of the associations we see with these selected chromosomal aberrations. Do you recognize this child? This syndrome that he represents? DiGeorge syndrome. DiGeorge syndrome is one of a group of chromosomal or genetic defects that we can make some specific associations of congenital heart disease. For the most part DiGeorge is associated with cono-truncal abnormalities; tetralogy of Fallot, truncus arteriosus, etc.

Leave a Reply

Your email address will not be published. Required fields are marked *