Congenital Heart Disease

Congenital heart disease is a defect in the structure of the heart. It is present at birth and can involve the walls of the heart, the valves of the heart and the arteries and veins near the heart. These defects can disrupt the normal blood flow through the heart. These diseases are often diagnosed during pregnancy or soon after birth.

Some common types of congenital heart defects include:

  • Ventricular septal defect or VSD, characterized by a hole in the heart’s septum, which separates the lower chambers
  • Transposition of the great arteries, where the positions of the pulmonary artery and the aorta are switched, leading to impaired oxygenation of blood
  • Pulmonary atresia, where the pulmonary valve does not form correctly, leading to restricted blood flow to the lungs
  • Aortic stenosis, where the aortic valve narrows and restricts blood flow to the rest of the body
  • Abnormalities in the structure or function of the heart’s chambers, including the left atria
  • Atrial fibrillation, characterized by irregular and rapid heartbeats in the atria, a part of the heart 

Congenital heart defects can be severe and life threatening. Prompt diagnosis and treatment of congenital heart disease is important.

Risk Factors

Congenital heart disease is the most common type of birth defect, occurring in about one percent of live births in the United States. Unfortunately, doctors often do not know why congenital heart disease occurs. Researchers do know that some risk factors for congenital heart disease include: 

  • Family history of congenital heart disease
  • Genetics
  • The mother’s health
  • Sex
  • Exposure during pregnancy to environmental factors, such as smoke or certain medicines

Other medical issues may be congenital heart disease risk factors.

Symptoms of Congenital Heart Disease

Symptoms may be different in children and adults. Some common congenital heart disease symptoms include:

  • Fatigue: Children and adults with CHD may experience fatigue and weakness due to reduced cardiac output, which affects the body’s ability to meet its oxygen demands.
  • Heart murmurs: Heart murmurs are extra or unusual sounds heard during a heartbeat. They are often present in individuals with congenital heart defects and may be detected during a routine physical exam.
  • Rapid breathing: People with CHD may have rapid or labored breathing, especially during feeding or physical activity. This is due to the heart’s inability to pump blood effectively, leading to inadequate oxygenation.
  • Cyanosis: This is a bluish discoloration of the skin, lips and nail beds. It occurs when there is a reduced amount of oxygen in the blood. Cyanosis is a prominent symptom in some types of CHD, especially those with a mix of oxygenated and deoxygenated blood within the heart.
  • Electrical impulses: Abnormal electrical signals in the heart can lead to some types of arrhythmia or irregular heart beats.
  • Recurrent respiratory infection: People with certain types of CHD may be more susceptible to respiratory infections due to poor lung circulation.

Adults with congenital heart disease may be at risk for high blood pressure, especially if the heart has structural defects affecting its ability to pump blood efficiently.

In more severe cases, congenital heart disease can lead to heart failure, where the heart is unable to pump blood effectively. Other heart problems like an abnormal heart rhythm or heart attack caused by coronary artery disease can occur.

Detection and Diagnosis

Sometimes, congenital heart disease diagnosis occurs during pregnancy or shortly after birth. Other times, it is not diagnosed until well into adulthood. If symptoms present, your doctor may perform a physical exam and diagnostic tests to determine a diagnosis of congenital heart disease.

Some of the key steps in the detection and diagnosis of congenital heart disease are as follows:

  • Prenatal screening: Many cases of congenital heart disease can be detected during routine prenatal ultrasounds. During these screenings, the ultrasound technician will check the fetal heart’s structure and function to find potential abnormalities.
  • Physical exam: After birth, a pediatrician will examine the newborn to check for any signs or symptoms. This may include listening to the heart and checking for signs of heart failure.
  • Pulse oximetry screening: Some defects may not be apparent during the physical exam but can show up when measuring the baby’s oxygen levels.
  • Echocardiogram: This is the most commonly used imaging test to diagnose congenital heart disease. It is a specialized ultrasound of the heart that provides detailed images of the heart’s structure and function. This enables doctors to visualize the heart’s chambers, valves and blood flow patterns to identify structural abnormalities.
  • Electrocardiogram: An electrocardiogram measures the electrical activity of the heart and can help detect abnormal heart rhythms or certain structural abnormalities.
  • Cardiac catheterization: In some cases, this procedure may be needed to obtain more detailed information about the heart’s anatomy and function. During the procedure, a thin tube is inserted into the blood vessels and guided to the heart to measure pressures and take images.

Congenital Heart Disease Treatments

Congenital heart disease treatment depends on the type and severity of the defect and other health factors of the child. Common treatments include medication, cardiac catheterization and open heart surgery — sometimes within the first year of the child’s life. Regular visits to a cardiologist should be a regular part of a diagnosed patient’s life.