Congenital Heart Defects
Congenital heart defects (CHDs) are structural problems with the heart that are present at birth. These defects result from abnormal formation of the heart during fetal development and can affect the heart walls, valves, or blood vessels. CHDs are the most common type of birth defect, affecting nearly 1% of births worldwide. They range from simple conditions that might cause no symptoms and require no treatment to complex defects that are life-threatening and require immediate intervention after birth. Many congenital heart defects can now be detected before birth through prenatal ultrasound screening. With advances in diagnosis and treatment, including improved surgical techniques and cardiac catheterization procedures, the prognosis for children with CHDs has improved dramatically in recent decades. Most children with congenital heart defects now survive into adulthood, though many require ongoing cardiac care throughout their lives.
Causes
- Genetic factors - Certain genetic and chromosomal abnormalities, such as Down syndrome, Turner syndrome, and 22q11.2 deletion syndrome, are strongly associated with heart defects.
- Family history - Having a parent or sibling with a congenital heart defect increases the risk.
- Environmental factors during pregnancy - Exposure to certain substances or conditions during critical periods of heart development.
- Maternal medications - Some medications taken during pregnancy, such as certain anti-seizure drugs, ACE inhibitors, retinoic acid, or lithium.
- Maternal infections - Certain infections during pregnancy, particularly rubella (German measles).
- Maternal health conditions - Poorly controlled diabetes, lupus, or phenylketonuria (PKU) during pregnancy.
- Alcohol consumption - Drinking alcohol during pregnancy can lead to fetal alcohol syndrome, which may include heart defects.
- Smoking - Maternal smoking increases the risk of certain heart defects.
- Advanced maternal age - Being over 35 years old when pregnant may slightly increase risk.
- Maternal obesity - Being significantly overweight during pregnancy may increase risk.
- Multiple factors - Most congenital heart defects result from a complex interaction between genetic predisposition and environmental factors.
- In many cases, the exact cause remains unknown despite extensive investigation.
Signs and Symptoms
- Symptoms vary widely depending on the type and severity of the defect. Some may cause no symptoms, while others can be life-threatening.
- In newborns and infants:
- Blue-tinged lips, skin, and nails (cyanosis) due to low oxygen levels in the blood.
- Rapid breathing or difficulty breathing, especially during feeding.
- Poor feeding and poor weight gain (failure to thrive).
- Excessive sweating, particularly during feeding.
- Heart murmur (abnormal heart sound detected by a doctor).
- In older children:
- Easily tiring or becoming short of breath during physical activity.
- Fainting during physical activity.
- Swelling in the legs, abdomen, or around the eyes.
- Abnormal heart rhythm or palpitations.
- Dizziness or lightheadedness.
- Delayed growth and development compared to peers.
- Signs of specific complex defects may include:
- Tet spells - Sudden, deep blue skin discoloration with irritability in infants with tetralogy of Fallot.
- Clubbing of fingers and toes - Enlargement of the fingertips due to chronic low oxygen levels.
- In severe cases, heart failure symptoms may develop, including:
- Persistent cough or wheezing.
- Swelling in the body tissues, especially in the legs, ankles, and feet.
- Abnormal heart rhythms.
- Poor exercise tolerance.
Diagnosis
Prenatal Ultrasound
Many congenital heart defects can be detected during routine pregnancy ultrasounds, particularly the detailed anatomy scan around 18-22 weeks. If abnormalities are suspected, a more specialized fetal echocardiogram may be recommended.
Fetal Echocardiogram
A specialized ultrasound that provides detailed images of the developing baby's heart. It can detect many heart defects before birth, allowing for delivery planning and immediate postnatal care when needed.
Physical Examination
After birth, doctors listen to the heart and lungs with a stethoscope to detect murmurs (unusual sounds caused by abnormal blood flow) and assess oxygenation. They also check for other signs like cyanosis (bluish discoloration), breathing difficulties, or poor growth.
Pulse Oximetry Screening
A simple, non-invasive test that measures oxygen levels in the blood. This is now routine for newborns in many countries and can detect some serious heart defects that might otherwise go undiagnosed until symptoms develop.
Echocardiogram
An ultrasound of the heart that provides detailed images of heart structure and function. This is the primary diagnostic tool for congenital heart defects, showing the specific anatomy of the defect, blood flow patterns, and heart function.
Electrocardiogram (ECG)
Records the heart's electrical activity, providing information about heart rhythm and possible stress on heart chambers due to structural defects.
Chest X-ray
Shows the size and shape of the heart and lungs, as well as blood flow patterns to the lungs, which can help identify certain heart defects.
Cardiac MRI
Provides detailed images of the heart and blood vessels, particularly useful for complex defects or when echocardiogram images are limited.
Cardiac Catheterization
An invasive procedure where a thin, flexible tube is inserted through a blood vessel and guided to the heart. This provides detailed information about pressures and oxygen levels in different heart chambers and can also be used for certain treatments.
Genetic Testing
May be recommended when a genetic syndrome is suspected or when there's a family history of congenital heart defects. This can involve blood tests for chromosomal abnormalities or specific gene mutations.
Treatment Options
Observation
For minor defects that cause few or no symptoms and may close on their own, such as small ventricular septal defects (VSDs) or atrial septal defects (ASDs). Regular check-ups with a pediatric cardiologist monitor the defect and ensure it's not causing problems.
Medications
Various medications may help manage symptoms or complications. These include diuretics to reduce fluid buildup, ACE inhibitors to lower blood pressure and improve heart function, beta-blockers to control heart rate, anticoagulants to prevent blood clots, and medications to help the heart contract more strongly.
Catheter-Based Procedures
Minimally invasive procedures performed by threading catheters through blood vessels to the heart. These include closing holes with special devices (for ASDs, VSDs, or patent ductus arteriosus), widening narrowed valves (balloon valvuloplasty), or expanding narrowed arteries (balloon angioplasty and stenting).
Open-Heart Surgery
For more complex defects, traditional surgery may be necessary. This involves opening the chest to directly repair the heart under cardiopulmonary bypass (a heart-lung machine). Procedures include closing holes, repairing or replacing valves, widening narrowed vessels, and correcting complex anatomical abnormalities.
Hybrid Procedures
Combine surgical and catheter-based techniques for certain complex defects, particularly in very small infants. These procedures may be staged, with initial palliation followed by more definitive repair later.
Heart Transplantation
For the most severe heart defects that cannot be adequately repaired, heart transplantation may be considered. This involves replacing the defective heart with a healthy donor heart.
Supportive Care
Nutritional support, supplemental oxygen, and developmental support may be needed, particularly for infants with complex heart defects. This care helps ensure adequate growth and development while preparing for surgical intervention.
Lifelong Management
Many patients with repaired congenital heart defects require ongoing cardiac care throughout their lives. This includes regular cardiology check-ups, preventive measures against infection (including endocarditis prophylaxis in some cases), and sometimes additional procedures as they grow or as repairs need revision.
Home Remedies
Nutrition Support
For infants with feeding difficulties, strategies may include more frequent feeding with smaller volumes, high-calorie formula if recommended by your doctor, positioning upright during and after feeding, and taking breaks during feeding to prevent fatigue. Some infants may need specialized feeding techniques or equipment, which your healthcare team can demonstrate.
Energy Conservation
Help your child save energy for growth and development by planning rest periods, scheduling activities during peak energy times, and organizing the home to minimize unnecessary exertion. For infants, cluster care activities (like diaper changes, bathing, and feeding) to allow longer rest periods.
Infection Prevention
Children with heart defects can be more vulnerable to respiratory infections. Practice good hand hygiene, limit exposure to sick contacts, ensure appropriate vaccinations (including RSV prophylaxis if recommended), and avoid large crowds during peak illness seasons.
Breathing Support
For children with increased respiratory effort, maintain a comfortable room temperature, use a humidifier to keep air moist (especially during illness), position for optimal breathing (often with head slightly elevated), and recognize signs of increased respiratory distress that require medical attention.
Medication Management
Create a system for consistently administering medications, including a chart or reminder app, measuring devices for accurate dosing, and strategies for administering medication to infants or reluctant children. Never adjust dosages without medical guidance.
Growth Monitoring
Keep records of your child's weight, height, and head circumference (for infants) between medical visits. For infants, track wet and soiled diapers, feeding amounts, and feeding duration to help identify potential problems early.
Activity Adaptation
Follow your cardiologist's guidelines about physical activity restrictions or recommendations. Most children with repaired defects can participate in age-appropriate activities, but some may need modifications. Focus on activities your child can enjoy safely rather than limitations.
Emergency Preparedness
Keep a summary of your child's cardiac condition, medication list, and healthcare provider contacts easily accessible. Learn CPR and know the specific warning signs for your child's condition that should prompt immediate medical attention.
Preventive Care
- Attend all scheduled cardiology appointments for ongoing monitoring.
- Complete all recommended imaging studies or tests to track the heart's status.
- Take medications exactly as prescribed, and discuss any concerns about side effects with your doctor rather than stopping medication.
- Follow endocarditis prevention guidelines if recommended for your child's specific defect.
- Ensure your child receives routine childhood immunizations plus additional recommended vaccines like influenza and pneumococcal vaccines.
- Maintain good dental hygiene with regular brushing, flossing, and dental check-ups to prevent infections that could affect the heart.
- For infants and young children, monitor growth carefully and address feeding difficulties promptly.
- Watch for and report new or worsening symptoms like increased fatigue, shortness of breath, or swelling.
- Prepare for life transitions by ensuring appropriate transfer of care from pediatric to adult congenital heart specialists.
- Consider genetic counseling if planning future pregnancies, as some congenital heart defects have genetic components.
- Maintain medical records and carry medical information when traveling.
- For adolescents and young adults, discuss exercise guidelines, career choices, pregnancy risks, and other lifestyle considerations with the cardiology team.
- Stay informed about your child's specific heart condition and any advances in treatment.
- Join support groups to connect with others managing similar conditions.
Surgical Options
Septal Defect Repair
Surgical closure of holes between heart chambers, including atrial septal defects (ASDs) and ventricular septal defects (VSDs). The surgeon may use stitches to close small defects or patches (made of synthetic material or the patient's own tissue) for larger holes. While many septal defects can now be closed using catheter-based approaches, surgical repair remains necessary for certain types or sizes of defects.
Learn More About This ProcedureValve Repair or Replacement
For defective or malformed heart valves, surgeons may reconstruct the existing valve (valvuloplasty) or replace it with a mechanical valve, biological valve (from human or animal tissue), or in some cases, a valve created from the patient's own tissue (autograft). The approach depends on the specific valve affected, the nature of the defect, and the patient's age and other factors.
Learn More About This ProcedureTetralogy of Fallot Repair
Comprehensive repair of this complex defect, which involves four abnormalities: ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta. The surgery typically includes closing the VSD with a patch and relieving the obstruction to blood flow from the right ventricle to the lungs, either by removing muscle or using a patch to enlarge the pathway.
Learn More About This ProcedureArterial Switch Operation
The standard procedure for transposition of the great arteries, where the aorta and pulmonary artery are connected to the wrong heart chambers. This complex surgery detaches and reattaches the great arteries to their correct ventricles and relocates the coronary arteries. It's typically performed within the first few weeks of life to prevent heart damage.
Learn More About This ProcedureCoarctation of the Aorta Repair
Correction of a narrowing in the main artery carrying blood from the heart to the body. Surgical approaches include removing the narrowed section and reconnecting the ends (end-to-end anastomosis), using a patch to enlarge the narrowed area, or implanting a synthetic graft to bypass the narrowing.
Learn More About This ProcedureFontan Procedure
A staged approach for single ventricle defects (where one ventricle is underdeveloped or missing). The final stage redirects blood returning from the body directly to the lungs without passing through the heart, allowing the single functioning ventricle to pump blood only to the body. This is typically completed between 2-4 years of age, following earlier palliative procedures.
Learn More About This ProcedureNorwood Procedure
The first stage in surgical palliation for hypoplastic left heart syndrome and similar conditions where the left side of the heart is severely underdeveloped. This complex procedure creates a new aorta connected to the right ventricle, establishes a reliable source of pulmonary blood flow, and creates an unrestricted connection between the heart's right and left sides.
Learn More About This ProcedureSchedule a Consultation
If you're experiencing symptoms of congenital heart defects, our expert team is here to help you find the right treatment approach for your specific needs.