- Multiple types of congenital heart defects are a category of heart disease caused by abnormal formation of the heart and great vessels before birth.
- Genetic or chromosomal factors, maternal health conditions during pregnancy, and environmental factors may act together, and in many cases no single cause is identified.
- The location of a defect and the structural abnormality can alter blood flow and oxygen delivery and place added strain on the heart.
- Typical manifestations may include a heart murmur, cyanosis, rapid breathing, feeding difficulty, and poor growth.
- Family history, genetic syndromes, and certain maternal health conditions and exposures may be associated with risk, while symptoms differ according to the type and severity of the defect.
- Mild defects may cause no symptoms, whereas severe defects may become apparent in infancy or lead to complications if untreated.
- Diagnosis combines the medical history and physical examination with oxygen saturation measurement, electrocardiography, chest imaging, and echocardiography; fetal echocardiography, cardiac MRI or CT, or cardiac catheterization may be used when needed.
- No single test can exclude every defect, and results vary with age, defect type, and prior treatment, so they must be interpreted in a specialist clinical context.
- Depending on the type and severity of the defect, management may combine observation, medication for symptom control, catheter-based procedures, or surgery, together with long-term follow-up and multidisciplinary care.
- Treatment is selected to improve each person's specific circulatory abnormality.