Congenital Heart Disease: Symptoms, Signs & Diagnosis

The overall incidence of Congenital Heart Disease (CHD) is between 10 and 12 per 1000 newborn babies, which is approximately 1 per cent. This number may actually be higher, as some babies with critical CHD and chromosomal abnormalities that are incompatible with survival may die in the first trimester of pregnancy and therefore remain undiagnosed.

These figures include the entire spectrum of CHD, ranging from heart conditions that do not significantly affect life expectancy to very critical forms that require immediate medical attention after birth.

Although in most cases it is difficult to identify the exact cause of CHD, there are certain high-risk conditions where the chances of a baby being born with CHD are higher.

High-Risk Conditions for Congenital Heart Disease

Babies are at increased risk of CHD in the following situations:

● Parents (especially the mother) already suffering from or treated for CHD

● Mother taking medications known to be associated with a higher risk of CHD

● Maternal alcohol intake during pregnancy

● Maternal X-ray exposure, especially during the first trimester

● Abnormalities detected in fetal scan outside the heart (extracardiac abnormalities)

● Chromosomal abnormalities detected in the fetus associated with CHD

● Family history of CHD in a sibling

Symptoms of “Hole in the Heart” (CHD)

The symptoms of CHD can vary widely, from completely asymptomatic cases detected during routine examination to severe conditions that may even lead to death in early fetal life.

The timing of symptom appearance is also highly variable, ranging from fetal life to adulthood, depending on the type and severity of the defect.

In general, most congenital heart diseases are diagnosed either at the time of discharge from the nursery or within the first 2 months of life. Critical CHD cases are ideally diagnosed immediately after birth, before the newborn leaves the hospital.

However, there are several warning signs that both parents and paediatricians should be aware of. Many of these symptoms may overlap with other pediatric conditions.

Warning Signs of CHD

● Bluish discolouration of the baby (cyanosis): This indicates low oxygen levels and may be seen immediately after birth or later after discharge. It requires urgent medical attention.

● Excessive crying: Crying without any clear cause noticed by the paediatrician or parents.

● Poor feeding and excessive sweating during feeding: The baby may struggle during feeds and tire easily.

● Poor weight gain: The baby does not gain weight as expected for age.

● Rapid or laboured breathing: Breathing may appear fast or difficult.

● Repeated respiratory infections: Frequent chest infections, sometimes requiring repeated hospital admissions.

Diagnosis of Congenital Heart Disease

The primary diagnostic tool for detecting CHD today is echocardiography. Echocardiography allows:

● Accurate diagnosis of almost all forms of CHD

● Assessment of severity

● Guidance for medical and surgical management

It is also a key tool in fetal diagnosis, known as fetal echocardiography, which can detect CHD as early as 16 weeks of pregnancy. This helps counsel parents well before the baby is born about the nature and severity of the condition.

Conclusion

Timely consultation and early diagnosis are extremely important. They help families and doctors plan appropriate management and follow-up strategies, ensuring better outcomes for the child.