- Signs & Symptoms
- Treatment Options
Congenital heart defects (CHDs) are abnormalities in the structure of the heart that are present at birth. They are the most common type of birth defect (congenital disability) and can range from mild to severe. These defects can occur individually or in combination with other defects.
Common types of congenital heart defects
- Atrial septal defect: A hole in the wall separating the two upper chambers of the heart (the atria). The blood flows between the two atria, leading to an increased workload on the heart and the risk of pulmonary hypertension.
- Ventricular septal defect (VSD): A hole in the wall separating the two lower chambers of the heart (the ventricles). The blood flows from the left ventricle (which pumps oxygenated blood to the body) to the right ventricle (which pumps deoxygenated blood to the lungs), leading to an increased workload on the heart and the risk of pulmonary hypertension.
- Patent ductus arteriosus: A persistent opening between the aorta and pulmonary artery, which are two major blood vessels. The blood flows in the wrong direction, leading to an increased workload on the heart and the risk of pulmonary hypertension.
- Coarctation of the aorta: A narrowing of the aorta, the main blood vessel that carries oxygenated blood from the heart to the rest of the body. This can cause high blood pressure in the upper body and low blood pressure in the lower body and lead to heart failure if left untreated.
- Tetralogy of Fallot: A combination of four heart defects: VSD, narrow pulmonary artery, displaced aorta over the VSD, and thickened right ventricle. This can cause cyanosis (a bluish tint to the skin) and a lack of oxygen in the blood.
- Transposition of the great arteries: The aorta and the pulmonary artery are in the wrong positions. The aorta carries oxygen-depleted blood to the body and the pulmonary artery carries oxygenated blood to the lungs. This can cause cyanosis and a lack of oxygen in the blood.
- Pulmonary stenosis: Narrowing of the pulmonary valve. It regulates blood flow from the right ventricle to the pulmonary artery. This can lead to an increased workload on the heart and a risk of heart failure.
- Aortic stenosis: Narrowing of the aortic valve that regulates blood flow from the left ventricle to the aorta. This can lead to an increased workload on the heart and a risk of heart failure.
- Tricuspid atresia: The tricuspid valve is absent or nonfunctioning. It regulates blood flow between the right atrium and the right ventricle. This can cause cyanosis and a lack of oxygen in the blood.
Rare types of congenital heart defects
- Pulmonary atresia: The pulmonary valve, which controls blood flow from the right ventricle to the lungs, is absent or nonfunctioning.
- Hypoplastic left heart syndrome: The left side of the heart (left atrium, left ventricle, and aortic valve) is underdeveloped.
- Ebstein's anomaly: The tricuspid valve is abnormally shaped and located.
- Mitral stenosis: The mitral valve, which controls blood flow between the left atrium and left ventricle, is narrowed or restricted.
- Truncus arteriosus: There is a single arterial trunk (the truncus arteriosus) instead of a separate aorta and pulmonary artery.
- Double outlet right ventricle: Both the aorta and pulmonary artery arise from the right ventricle instead of the left ventricle.
What are the signs and symptoms of congenital heart defects?
Congenital heart defects can affect how the heart functions. The impact can be mild to severe.
Common signs and symptoms of congenital heart defects
- Rapid breathing or difficulty breathing: Especially during feeding or physical activity. Children may breathe rapidly or have a bluish tint to their skin due to a lack of oxygen.
- Fatigue or poor feeding: Children tire easily and have difficulty feeding, leading to poor weight gain.
- Swelling: Children may have swelling in their legs, ankles, and abdomen due to fluid accumulation.
- Heart murmur: An abnormal sound heard during a heartbeat and can be a sign of a congenital heart defect.
- Chest pain: Children may experience chest pain, especially during physical activity.
- Palpitations: Children may feel their heart racing or skipping a beat.
- Syncope or fainting: This can occur due to a lack of oxygen to the brain.
- Cyanosis (bluish skin color): A heart defect causing a lack of oxygen in the body.
- Developmental delays: Children may experience developmental delays due to decreased oxygen levels in the body.
Some congenital heart defects may not cause any symptoms and get discovered during a routine medical examination. If you suspect that your child may have a congenital heart defect, speak to a doctor as soon as possible for diagnosis and treatment.
What are the causes of congenital heart defects?
Some people with congenital heart defects may have multiple risk factors and others may have none. In cases where the cause of the defect is not understood, it is called an “idiopathic” or “isolated” congenital heart defect.
The most common causes and risk factors of congenital heart defects include:
- Genetic factors: Genetic mutations occur during the early stages of fetal development. These mutations can be inherited from a parent or occur spontaneously.
- Environmental factors: Exposure to certain medications, infections, or toxins during pregnancy.
- Chromosomal abnormalities: Abnormal structure or several chromosomes can cause congenital heart defects. Down syndrome can increase the risk of congenital heart defects.
- Infections: Getting infected with rubella or cytomegalovirus during pregnancy.
- Multifactorial inheritance: Congenital heart defects may result from genetic and environmental factors.
- Unknown causes: No cause for congenital heart defect is determined.
- Maternal health conditions: Diabetes, obesity, lupus, and viral infections during pregnancy.
- Family history: A parent or sibling has a congenital heart defect.
- Multiple pregnancies: Twins, triplets, or more.
- Advanced maternal age: Older than 35 years when pregnant.
- Other factors: Some studies have suggested that congenital heart defects can be caused by poor nutrition and exposure to tobacco smoke.
How are congenital heart defects diagnosed?
Congenital heart defects (CHDs) are present at birth. They can range in severity and could be diagnosed before or after birth.
- Prenatal diagnosis: Some CHDs can be detected during pregnancy through various tests. These may include:
- Ultrasound: A noninvasive test that uses sound waves to create images of the developing baby.
- Fetal echocardiography: A specialized type of ultrasound that looks at the baby's heart. It can provide detailed images of the heart and help diagnose CHDs.
- Amniocentesis: Involves taking a small sample of the amniotic fluid surrounding the baby and analyzing it for genetic abnormalities, including some CHDs.
- Newborn screening: All newborns in the United States are screened for certain conditions, including CHDs, shortly after birth. This may involve listening to the baby's heart with a stethoscope or using a handheld device to check for abnormalities.
- Physical examination: A doctor may suspect a CHD based on the baby's appearance and other physical signs, such as a heart murmur (an abnormal sound heard through a stethoscope).
If a CHD is suspected, further testing could be needed to confirm the diagnosis and determine the severity of the defect.
- Echocardiography: Uses sound waves to create images of the heart and assess its function.
- Cardiac catheterization: Involves inserting a thin tube (catheter) into a blood vessel in the leg or arm to reach the heart. It can provide detailed information about the heart's structure and function.
- Electrocardiography: Records electrical activities of the heart and can help diagnose certain CHDs.
- Chest X-ray: To get a picture of the heart and the surrounding blood vessels and detect abnormalities in the size or shape of the heart.
- MRI: Uses a strong magnetic field and radio waves to create detailed images of the heart and surrounding structures. It can detect problems with the heart's structure and function.
It is important to diagnose and treat CHDs as early as possible to improve the outcome.
What are the treatment options for congenital heart defects?
The treatment of congenital heart defects (CHDs) depends on the specific type and severity of the defect, as well as the age and overall health of the child.
- Medical management: Medications manage symptoms and improve heart function. Children with CHDs could be prescribed medications to control their heart rate, blood pressure, or blood flow. Blood thinners prevent blood clots, and other drugs treat arrhythmias.
- Lifestyle changes: Following a healthy diet and exercise plan can help manage the symptoms of a congenital heart defect.
- Catheter-based procedures: Thin tubes (catheters) are inserted through a vein or artery to repair or modify the heart's structure. Catheter-based procedures could treat several CHDs, including atrial septal defects, patent ductus arteriosus, and coarctation of the aorta.
- Surgery: Repairs or modifies the structure of the heart in people with CHDs. These procedures may include:
- Open-heart surgery, where the chest is opened to access the heart.
- Minimally invasive surgery uses smaller incisions and specialized instruments.
- Corrective surgery repairs or replaces heart valves or the aorta and patches the closure of septal defects.
- Heart transplant: The defective heart is replaced with a healthy donor’s heart in people with severe CHDs. The last treatment choice is when other treatments have been unsuccessful or are not possible.
- Palliative care: A type of medical care that focuses on relieving symptoms and improving the quality of life of people with serious or terminal illnesses. Palliative care could be appropriate for people with CHDs who cannot get other treatments or are in end-of-life care.
It is important to note that the treatment of CHDs is often complex and may involve a combination of the above approaches. The best course of treatment will be determined by each patient's individual needs and circumstances.
What is the outcome of children with congenital heart defects?
Congenital heart defects (CHDs) can affect various parts of the heart, such as heart walls, valves, and blood vessels. The outcome for people with CHDs depends on several factors, including the specific type of defect, the severity of the defect, and the age of the person at diagnosis.
- People with mild to moderate CHDs may have a good prognosis and may not experience any symptoms or significant complications. They may not require any treatment or only need surgery or other medical procedures to correct the defect.
- People with more severe CHDs may have a more complex course of treatment. They may need multiple surgeries or other medical procedures throughout their lives to manage their condition. They have a risk of developing complications, such as heart failure, arrhythmias (abnormal heart rhythms), or other medical problems.
The outlook for people with CHDs has improved significantly due to advances in medical care and surgical techniques. Many people with CHDs live long, healthy lives with proper treatment and management of CHDs. The person with CHDs must get ongoing medical care from a team of experienced doctors.
What are Congenital Heart Defects? https://www.cdc.gov/ncbddd/heartdefects/facts.html
Congenital Heart Defects. https://www.heart.org/en/health-topics/congenital-heart-defects
What are Congenital Heart Defects? https://www.nhlbi.nih.gov/health/congenital-heart-defects
Congenital Heart Defects. https://www.aap.org/en/patient-care/congenital-heart-defects/
Congenital Heart Disease (CHD). https://www.mottchildren.org/conditions-treatments/ped-heart/chd
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