World Heart Day, observed annually on September 29, serves as a reminder to raise awareness about heart health across all age groups. In children, congenital heart diseases (CHDs) are among the most common birth defects. These are broadly categorized as cyanotic and acyanotic heart diseases, both of which require early recognition and timely medical intervention. ³

What Are Congenital Heart Diseases?

Congenital heart diseases are structural abnormalities of the heart present at birth. They affect the way blood flows through the heart and to the rest of the body. Globally, the incidence is estimated at 8–10 cases per 1,000 live births. ¹ The conditions range in severity from minor defects that resolve on their own to complex anomalies requiring surgery.

Cyanotic vs. Acyanotic Heart Diseases

The classification depends on whether the defect causes a reduction in oxygen levels in the blood.

• Cyanotic heart disease: In these cases, deoxygenated blood enters systemic circulation, leading to cyanosis, or a bluish discoloration of the skin and lips. Common types include:

  • Transposition of the Great Arteries (TGA)

  • Hypoplastic Left Heart Syndrome (HLHS)

  • Tetralogy of Fallot (TOF)

• Acyanotic heart disease: These conditions involve abnormal blood flow, but oxygen levels remain relatively normal. The heart often works harder to pump blood, leading to complications over time. Examples include:

  • Atrial Septal Defect (ASD)

  • Ventricular Septal Defect (VSD)

  • Patent Ductus Arteriosus (PDA)

  • Coarctation of the Aorta

Diagnosis and Early Intervention

According to the National Center for Biotechnology Information (NCBI), many congenital heart diseases can be detected before birth using fetal echocardiography (18–22 weeks of gestation). After birth, physical examination, pulse oximetry, chest X-ray, and echocardiogram remain the gold standards for diagnosis.

Dr. Munish Kumar Raizada, MD, FAAP, board certified neonatologist, emphasizes the critical importance of early detection:

“Cyanotic heart disease is rare compared to Acyanotic heart disease. But it is crucial to diagnose them prenatal or as soon as possible after birth. TGA (Transposition of Great Arteries) and Hypoplastic Left Heart Syndrome are very likely to clinically manifest within the first couple of days, and it is crucial that the neonatologists be mindful of it."

He also said, "if a baby is born presenting with low oxygen saturation, TGA might be a probable differential diagnosis. We must be able to differentiate whether we are dealing with a respiratory condition or heart disease, i.e., cyanotic heart disease."

"And if cyanotic heart disease is a probable diagnosis, immediate intervention is required, an echo must be done immediately, and management must be started with the help of O₂ and prostaglandins, similar in case of Hypoplastic Left Heart Syndrome (HLHS) as well."

He points out that "another cyanotic heart disease, Tetralogy of Fallot, may not present with a crisis, but it manifests similarly and has long-term consequences.”

Treatment Approaches

• Cyanotic CHDs often require immediate interventions such as oxygen therapy, prostaglandin infusion to keep the ductus arteriosus open, and corrective or palliative surgeries within days or weeks of life.

• Acyanotic CHDs may be managed initially with medications to reduce strain on the heart. Surgical or catheter-based interventions are often needed later to close abnormal openings or repair narrowed vessels.

The outcomes for both types have improved significantly with advancements in pediatric cardiology and surgery. Survival rates have increased, and children can now lead healthier lives with appropriate care.

Public Health Perspective

Congenital heart disease remains a major contributor to infant morbidity and mortality worldwide. Dr. Raizada stresses "that prenatal screening, awareness among primary healthcare workers, and early referral to pediatric cardiologists are essential." Public health initiatives must focus on:

• Expanding access to fetal and neonatal screening programs

• Training healthcare workers to recognize early signs of CHDs

• Ensuring availability of surgical and interventional facilities, especially in resource-limited settings

World Heart Day highlights not only the importance of cardiovascular health in adults but also in newborns and children. Differentiating between cyanotic and acyanotic congenital heart diseases, ensuring timely diagnosis, and initiating immediate interventions can save lives. As Dr. Raizada points out, vigilance from neonatologists and pediatricians in the first hours and days of life is critical to improving outcomes for affected infants.

References

1. Cleveland Clinic. “Acyanotic Heart Disease.” Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/21725-acyanotic-heart-disease.

2. Cleveland Clinic. “Cyanotic Heart Disease.” Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/22441-cyanotic-heart-disease.

3. National Center for Biotechnology Information (NCBI). Congenital Heart Disease. In GeneReviews®. https://www.ncbi.nlm.nih.gov/sites/books/NBK500001/.