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Description
Congenital heart defects (CHD), the most common birth defects, affect the development of the heart. The cause of a congenital heart defect are not always known. Some associated factors may include a genetic anomaly, a mother’s health, or exposure to medication or smoking. Congenital heart defects generally develop at or before the 6th week of pregnancy when the heart and blood vessels begin to form. The symptoms of congenital heart defects vary, but after birth may include tiredness while feeding, sleepiness, difficulty breathing, and blue-tinted lips and nails. Associated conditions include blood clots, arrhythmia, developmental disorders, pneumonia, stroke, heart failure, pulmonary hypertension, endocrine issues, and emotional problems. Congenital heart defects occur in 1 in 120 live births.
Six common types of congenital heart defects are: DiGeorge syndrome, hypoplastic left heart syndrome, patent ductus arteriosus, pulmonary stenosis, atrial septal defect, and ventricular septal defect. More information and support related to these specific conditions can be found in the Sources and Diagnosis-Specific Support sections below.
Screening and Diagnosis
Many congenital heart defects can be diagnosed during a routine ultrasound or by listening to the fetal heartbeat. If a CHD is detected, doctors may recommend a cardiac ultrasound (echocardiography) or an MRI. Genetic testing may be performed after birth to determine the cause of the defect.
Treatment/Prognosis
Most heart defects are treatable with very positive results. Depending on the type of congenital heart defect, there may be several different treatment options before and after birth, including prenatal surgery in utero or within the baby’s first year to repair the defect. Cardiac catheterization is one common procedure that repairs some heart defects by inserting a catheter into a vein and guiding it to the heart. Heart replacements or the insertion of a ventricular assistance device or artificial heart may also be required to treat a defect. Another treatment may involve prescribing medication to the mother while her unborn baby is in utero. Some children may grow out of simple heart conditions as they develop.
Medical advances are continually improving treatment options and outcomes so consulting with specialists and major children’s hospitals may be beneficial to finding the best possible care.
Palliative care programs are available to support infants and their families for parents who may not be able to pursue medical interventions for their child with a life-limiting condition. They may ask their medical team for more information about perinatal palliative care programs that are available to them.
