An individual with congenital heart disease (CHD) has a variety of heart defects at birth, which affect their heart and blood vessels. Heart and blood vessel function can be affected by CHD, which can affect oxygen delivery, blood flow, and heart rhythm. In approximately 8 to 9 cases of live births affected by CHD, about 8 to 9 are affected.
The exact cause of CHD is not known, but it is likely due to a combination of genetic and environmental factors. Some of the possible risk factors include:
Having a family history of CHD or other heart problems
Having a chromosomal abnormality or a genetic syndrome, such as Down syndrome or Marfan syndrome
Having certain infections during pregnancy, such as rubella or cytomegalovirus
Having certain maternal conditions during pregnancy, such as diabetes, obesity, or autoimmune disorders
Taking certain medications or substances during pregnancy, such as alcohol, tobacco, or drugs
The symptoms of CHD vary depending on the type and severity of the defect. Some babies with CHD may have no symptoms at all, while others may have life-threatening complications. Some of the common symptoms of CHD include:
Bluish skin, lips, or nails (cyanosis)
Rapid or irregular heartbeat (arrhythmia)
Shortness of breath or difficulty breathing
Fatigue or weakness
Poor feeding or growth
Sweating or cold extremities
Swelling of the abdomen, legs, or face
Chest pain or fainting
CHD can be diagnosed before birth, soon after birth, or later in life. Some of the tests and procedures that can help diagnose CHD include:
Prenatal ultrasound: A noninvasive imaging technique that uses sound waves to create pictures of the fetus and its organs, including the heart
Fetal echocardiogram: A specialized ultrasound that focuses on the structure and function of the fetal heart
Pulse oximetry: A simple test that measures the oxygen level in the blood by attaching a sensor to the finger or toe
Electrocardiogram (ECG or EKG): A test that records the electrical activity of the heart and detects any abnormalities in the heart rhythm
Chest X-ray: A test that uses radiation to create images of the chest, showing the size and shape of the heart and lungs
Echocardiogram: A test that uses sound waves to create detailed images of the heart and its valves, chambers, and blood vessels
During cardiac catheterization, a thin, flexible tube (catheter) is inserted into a blood vessel and guided to the heart, where it can measure blood pressure, take blood samples, or repair some defects.
Cardiac MRI or CT scan: Advanced imaging techniques that use magnetic fields or X-rays to create high-resolution images of the heart and its structures
The treatment of CHD depends on the type and severity of the defect, as well as the age and overall health of the patient. Some of the possible treatment options include:
Medications: Drugs that can help lower blood pressure, prevent blood clots, control heart rate, or treat heart failure or infection
Devices: Implants that can help regulate the heart rhythm, such as pacemakers or defibrillators, or devices that can help close holes or open valves, such as occluders or stents
Catheter procedures: Minimally invasive techniques that can repair some defects using catheters and special tools, such as balloons or coils
Surgery: Operations that can correct or improve some defects using open-heart or minimally invasive techniques, such as valve repair or replacement, septal defect closure, or bypass grafting
Heart transplant: A procedure that involves replacing a diseased heart with a healthy one from a donor, usually reserved for patients with severe or irreversible heart damage
There is no sure way to prevent CHD, but some steps that can help reduce the risk include:
Getting regular prenatal care and screening tests during pregnancy
Taking folic acid supplements before and during pregnancy
Avoiding alcohol, tobacco, and drugs during pregnancy
Getting vaccinated against rubella and other infections before or during pregnancy
Managing chronic conditions, such as diabetes, obesity, or autoimmune disorders, before or during pregnancy
Consulting with a genetic counselor or a cardiologist if there is a family history of CHD or other heart problems
In addition to affecting the heart's structure and function, congenital heart disease can also result in complications based on the severity and type of the defect. A variety of tests and procedures can be used to diagnose and treat CHD, depending on the case. By following a healthy lifestyle and taking prenatal care precautions, CHD can also be prevented or reduced. For optimal care and quality of life, people with CHD should see a cardiologist regularly.
