Congenital heart defects (CHD) are the most common type of birth defect and the leading cause of infant deaths in the developed world. This implies a defect in the structure of the heart or blood vessels leading to or from the heart. The heart should have 4 chambers and 2 major vessels leading into the heart and two major vessels leading out of the heart. This includes mild defects such as Ventricular Septal Defects( VSD) while excluding defects associated with prematurity such as Patent Foramen Ovale(PFO) and patent ductusarteriosus (PDA)s. Critical congenital heart disease refers to a potentially life-threatening cardiac abnormality where either the systemic( blood to the body) or pulmonary( blood to the lungs) circulation is dependent on a PDA. These defects are present at birth but some are only recognised much later- weeks, months or even years later. The longer it takes to make the diagnosis , the more difficult the prognosis and in some cases, the more likely it is for surgery no longer to be an option.

The incidence of CHD is 1:100-1:150 while the figure of 8:1000 is the most widely generally accepted. This number is the same the world over. However in countries where antenatal screening ( usedfetal ultrasound) is not universal such as South Africa with varying rates depending on public/private/rural settings, the number is more likely to be higher. In addition certain factors can increase the incidence of congenital heart defects such as inadequate rubella over for mothers leading to congenital heart defects in the baby. We also know that based on these figures, we should be seeing far more children each year with certain critical congenital lesions and thus we are convinced that many children with congenital heart disease are missed and most likely die before a diagnosis is made. Other present too advanced for curative management. IN south Africa we have a dire need of paediatric cardiologist and qualified cardiac surgeons with less than 30 in the country. International figures state that we should have at least 88 paediatric cardiologists instead of our current 23. This is one of the reasons why we believe so many children are missed coupled with the poor rate of antenatal screening, late booking and early discharge. There are also reduced awareness generally about the fact that cardiac defects are common and that post-natal screening and 6 week checks are extremely important, as well as not ignoring any of the signs mentioned below.

Critical congenital heart disease manifests in the first few hours/days of life. They can either present with cyanosis or blueness. All babies have blue hands and feet at birth but this should improve and never be associated with a blue tongue or blue lips. This is an important danger sign and should never be ignored. If the blood is obstructed going to the body, the baby may first present with a fast heart beat, fast breathing, clod hands and feet and poor pulses to feel. An abnormal murmur may be not always be present.

Later on, babies who have intermittent blueness of the lips and tongue , again fast breathing and heart beats are concerning as well as those who tire or sweat with feeding. Although many children can have short murmurs, murmurs that are loud or associated with an enlarged heart or any symptoms must be referred to a cardiologist.

Much can be done. Virtually every heart condition can be relieved, some entirely, by surgery. Some lesions may not even need surgery but catheter intervention or medication only. However delaying the diagnosis, can result in severe consequences. IN the past 50 years, the progress made in the treatment of congenital heart disease has been remarkable with mortality rates down universally below 5% in tertiary units and a very good chance of post-surgery children surviving into their late adulthood. IN fact in the US, more people are living with repaired congenital heart disease than are being born with it. However we are still a long way off this in south Africa. Although our mortality rates within hospitals are comparable with the world, due to excellent surgeons in this country, we know we are still missing many patients and many patients still present to us in extremis or too late for surgical options.