CHD

Congenital heart disease (CHD) describes a range of structural heart defects present at birth that affect the heart’s wall, valves, or blood vessels. Defects vary from small lesions that may cause no symptoms to complex malformations requiring multiple surgeries. CHD is one of the most common types of birth defects, with estimates of incidence around 8 per 1,000 live births worldwide. Advances in fetal imaging, pediatric cardiology, and cardiothoracic surgery have greatly improved survival, and many individuals with CHD live into adulthood.

Most CHD results from a combination of genetic and environmental factors. Some cases are associated with chromosomal abnormalities such as Down syndrome or Turner syndrome, or with conditions like maternal diabetes or viral infections during pregnancy. In most instances, the cause remains unknown.

CHD is often categorized as cyanotic, where blood oxygen levels are reduced, and acyanotic. Common lesions include ventricular septal defect and atrial septal defect, patent ductus arteriosus, coarctation of the aorta, tetralogy of Fallot, and transposition of the great arteries. Presentation can include a heart murmur, rapid breathing, poor feeding, poor weight gain, cyanosis, or may be asymptomatic and detected by routine screening or prenatal imaging. Diagnosis typically involves echocardiography, sometimes supported by electrocardiography, chest X-ray, fetal imaging, MRI or CT, and genetic testing when indicated.

Treatment depends on the defect and may involve medical management, catheter-based interventions, or surgical repair. Some defects close spontaneously or may be managed with medications; others require staged surgeries. Ongoing adult follow-up is common, as individuals may face arrhythmias, valve problems, or heart failure later in life. Research continues in prenatal detection, less invasive therapies, and long-term management to improve outcomes for all CHD patients.