What are Congenital Heart Defects (CHDs)?
Coronary artery disease is present at birth and can affect the structure and functioning of a baby's heart. It can affect how blood flows through the heart and out to the rest of the body. Coronary artery disease can vary from mild (such as a small hole in the heart) to severe (such as missing or poorly formed parts of the heart).
About 1 in 4 babies born with a heart defect suffers from critical coronary heart disease (also known as a serious congenital heart defect). Babies with critical coronary heart disease need surgery or other procedures in the first year of life.
Types of Congenital Heart Defects in Children
Babies and children with all types of congenital heart defects receive expert diagnosis and treatment from specialists at the Pediatric Congenital Heart Program. Congenital heart defects occur at birth and affect the heart or blood vessels.
Hundreds of heart defects can arise as a baby develops in the womb, and some infants may have more than one. Some defects cause no health challenges for years; in fact, some may never pose a health risk.
However, many infants require treatment with surgery or catheter procedures to repair a defect immediately or in the first few months of life. Others may need medication as a bridge to surgery or other procedures, or as the only therapy to manage symptoms.
Our experts treat babies and children with all types of congenital heart defects, including:
- aortic valve stenosis
- atrial septal defect
- Ebstein’s anomaly
- hypoplastic left heart syndrome
- interrupted aortic arch
- coarctation of the aorta
- complete atrioventricular canal defect
- patent ductus arteriosus
- total anomalous pulmonary venous return
- transposition of the great arteries
- tricuspid atresia
- pulmonary valve stenosis
- tetralogy of Fallot
- truncus arteriosus
- ventricular septal defect
Symptoms of Congenital Heart Defects in Children
Serious congenital heart defects usually appear soon after birth or within the first few months of life. They can include signs and symptoms:
- Pale gray or blue skin color (cyanosis)
- Rapid breathing
- Swelling in the legs, abdomen or areas around the eyes
- Shortness of breath during feeding, resulting in poor weight
Less serious congenital heart defects may not be diagnosed until later in childhood, because your child may not show any noticeable signs of a problem. If signs and symptoms occur in older children, they may include:
- Feeling short of breath easily during exercise or activity
- Fatigue easily during exercise or activity
- Fainting during exercise or activity
- Swelling in the hands, ankles, or feet
Causes of Congenital Heart Defects in Children
Doctors don't always know why a child has a congenital heart defect. It tends to run in families.
Things that make it more likely include:
- Genetic or chromosomal problems in a child, such as Down syndrome
- Taking certain medications or alcohol or drug abuse during pregnancy
- A viral infection, such as rubella (rubella) in the mother in the first trimester of pregnancy
How Are Heart Defects Treated?
Youngsters with minor heart deformities may not require any treatment. However, some children suffer from severe symptoms that require medical or surgical treatment during the first year of life. They will be taken care of:
- pediatric cardiologists: Doctors who specialize in treating children's heart problems
or - pediatric heart surgeons: Specialists in pediatric heart surgery
Procedures performed through cardiac catheterization - such as balloon angioplasty or valvuloplasty - can dilate blood vessels or a blocked valve. Another procedure, blockage of the catheter device, can close abnormal openings or holes in the heart or blood vessels without surgery.
Some problems, such as small or medium-sized ventricular septal defects, may close or get smaller as the child grows. While waiting for the hole to close, the child may have to take medications.
Complex defects detected early may need a series of processes ending when the child is approximately 3 years old.
Testing and diagnosis of congenital heart disease
Several serious congenital heart diseases are detected during pregnancy, during a routine ultrasound examination. Other conditions may be diagnosed soon after birth. Less serious heart conditions may not be diagnosed until children get older and begin to show certain signs or symptoms of congenital heart disease.
During pregnancy, if your doctor thinks your baby may have CHD, you will likely be referred to a pediatric cardiologist for further testing. The type of diagnostic tests performed will depend on the form of coronary heart disease your child may have. Examples of tests used include a fetal echocardiogram, electrocardiogram (EKG), magnetic resonance imaging of the heart (MRI) and cardiac catheterization. If you are referred to Children's Hospital of Philadelphia, you will be seen through the Heart Center's Fetal Heart Program.
Risk factors for Congenital Heart Defects in Children
Most congenital heart defects are caused by problems early in the development of your baby's heart, and the cause is unknown. However, some environmental and genetic risk factors may play a role. They include:
- Rubella (German measles). German measles infection during pregnancy can cause problems with the development of your baby's heart. Your doctor can test for immunity to this viral disease before pregnancy and vaccinate you against it if you are not immune.
- Diabetes. You can reduce the risk of congenital heart defects by carefully controlling diabetes before trying to conceive and during pregnancy. Gestational diabetes generally does not increase your baby's risk of developing a heart defect.
- Medications. Some medications taken during pregnancy may cause birth defects, including congenital heart defects. Provide your doctor with a complete list of all medications you take before trying to conceive.
- Medicines known to increase the risk of congenital heart defects include thalidomide (Thalomide), angiotensin-converting enzyme (ACE) inhibitors (ACE), statins, acne medication isotretinoin (Absorica, Amnstim, and Claravis) and lithium.
- Drinking alcohol during pregnancy. Avoid drinking alcohol during pregnancy because it increases the risk of congenital heart defects.
- Smoking. Smoking during pregnancy increases the likelihood of a congenital heart defect in the baby.
- Heredity. Congenital heart defects sometimes run in families and may be associated with an inherited syndrome. Many children with Down syndrome - which are caused by an extra chromosome 21 (trisomy 21) - have heart defects. A missing (deleted) piece of genetic material on chromosome 22 also causes heart defects.
- Genetic testing can detect such disturbances during fetal development. If you already have a baby with a congenital heart defect, a genetic counselor can estimate the odds that your next child will have it.
Complications of Congenital Heart Defects in Children
Complications depend on the type of congenital heart defect you have. Include some potential complications:
- Arrhythmia
- Blood clots
- Developmental disorders and delays. Children with congenital heart defects are more likely to have behavior problems. They are also more likely to have speech and attention deficit / hyperactivity disorder.
- Emotional health issues. Depression, anxiety and PTSD are common among people with congenital heart defects.
- Endocarditis, a type of heart inflammation
- Endocrine disorders, This includes thyroid problems, bone health problems and diabetes. Problems with the hormones that deal with calcium can cause bone problems.
- Heart failure. Heart failure is the leading cause of death in adults with congenital heart defects. Some children with congenital heart defects develop heart failure.
- Kidney disease
- Liver disease
- Pneumonia. Pneumonia is a leading cause of death in adults with congenital heart disease.
- Pregnancy complications. Women with congenital heart defects are at increased risk of developing complications during pregnancy and childbirth. Read more in the Living With section.
- Pulmonary hypertension
- Stroke
Outlook and follow-up care for congenital heart disease
Children with congenital heart disease are monitored by specialists called pediatric cardiologists. These doctors diagnose heart disease and help manage children's health before and after surgical repair of a heart problem. The specialists who correct heart problems in the operating room are known as pediatric cardiovascular surgeons or cardiothoracic surgeons.
It is imperative that individuals born with congenital heart disease who have reached adulthood transition to the appropriate type of heart care. The type of care required depends on the type of CHD the person has. Generally, people with mild types of CHD can be cared for by a community adult cardiologist. People with more complex types of coronary heart disease will need care at a center that specializes in adult congenital heart disease, such as the Philadelphia Adult Congenital Heart Center.
How Can Congenital Heart Disease Be Prevented?
Women who are pregnant or planning to become pregnant can take certain precautions to reduce the risk of having a baby with a congenital heart defect:
- If you are planning to become pregnant, talk to your doctor about any prescription or over-the-counter medicines you are taking.
- If you have diabetes, make sure your blood sugar levels are controlled before pregnancy. It is also important to work with your doctor to manage illness during pregnancy.
- If you have not been vaccinated against rubella or rubella, avoid exposure to the disease and talk to your doctor about prevention options.
- If you have a family history of congenital heart defects, ask your doctor about genetic testing. Certain genes may contribute to abnormal heart development.
- Avoid drinking alcohol and using drugs during pregnancy.
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