Early Detection of Congenital Heart Defects in Children

Congenital heart defects (CHDs) in children can be detected at various stages, largely depending on the type and severity of the condition. Some defects are identified immediately after birth, while others may not be diagnosed until later in infancy or even childhood.

Immediate Detection at Birth

Some severe forms of congenital heart disease can be identified within minutes or hours of birth. For example, in cases of complete transposition of the great arteries, newborns often display visible symptoms such as cyanosis (bluish skin tone) and rapid breathing. These signs typically prompt immediate medical evaluation, and a cardiac ultrasound (echocardiogram) can confirm the presence of a serious heart defect.

Diagnosis During the Neonatal Period

For many infants, congenital heart issues are detected during routine checkups within the first 28 days of life. During a standard physical examination, a healthcare provider may detect a heart murmur—an abnormal sound caused by turbulent blood flow. If a murmur is present, further diagnostic tests such as an echocardiogram are usually recommended to determine the underlying cause and confirm the presence of a congenital heart condition.

Late Detection Due to Mild Symptoms

In some cases, children may have minor heart defects such as small ventricular septal defects (VSDs), atrial septal defects (ASDs), or patent ductus arteriosus (PDA) that do not produce noticeable symptoms. These conditions may not cause a detectable heart murmur or may only produce a very subtle sound that can be missed during a regular exam. Often, these defects are discovered incidentally—such as when a child develops a respiratory infection and undergoes a chest X-ray, which may reveal an enlarged heart shadow. This finding typically leads to follow-up testing with an echocardiogram, which can confirm the diagnosis.

Importance of Early Screening

Early detection plays a critical role in improving outcomes for children with congenital heart defects. Advances in neonatal screening techniques, including pulse oximetry, have significantly improved early diagnosis rates. Parents are encouraged to stay informed about their child's heart health and seek specialized evaluation if any unusual symptoms arise.