Understanding Congenital Heart Defects: Causes, Types, Symptoms, Diagnosis, and Treatment

Creator: Doctronic
Published: 2023-11-25

Key Takeaways

These conditions affect 1 in 100 babies, making them the most common birth defects, with ventricular septal defects (holes between heart chambers) accounting for 40% of all cases.
Critical defects requiring intervention within the first year affect about 25% of cases and include hypoplastic left heart syndrome, transposition of great arteries, and tetralogy of Fallot.
Maternal diabetes increases risk 3-5 times, while taking folic acid (400 mcg daily) before conception can reduce certain defect risks by up to 40%.
Pulse oximetry screening now routinely performed 24-48 hours after birth can detect critical defects that appear normal on physical exam, catching cases that would otherwise go undiagnosed.
Transcatheter procedures can now repair many defects without open surgery—patent ductus arteriosus and atrial septal defects often close with device placement through a cardiac catheter.

A congenital heart defect is a problem with the heart that is present at birth. These defects can range from small holes in the heart to more severe issues affecting the heart's structure and function. Although congenital heart defects can be serious, many can be treated with surgery or medication, allowing individuals to lead healthy lives.

Causes of Congenital Heart Defects

The exact causes of congenital heart defects are not always known, but several factors can increase the risk, including:

Family history of heart defects
Genetic disorders, such as Down syndrome
Smoking, alcohol, or drug use during pregnancy
Certain medications taken during pregnancy
Viral infections, like rubella, during the first trimester
Maternal diabetes

Types of Congenital Heart Defects

Congenital heart defects can affect various parts of the heart, including:

Heart valves
Heart walls (atria and ventricles)
Heart muscle
Blood vessels connected to the heart

Understanding Congenital Heart Defects: Causes, Types, Symptoms, Diagnosis, and Treatment

Symptoms of Congenital Heart Defects

Symptoms of congenital heart defects may not always be apparent, especially in adults. When symptoms do occur, they can include:

Shortness of breath
Difficulty exercising
Bluish tint to the skin, fingernails, and lips (cyanosis)
Poor feeding and slower weight gain in infants
Lung infections

Diagnosing Congenital Heart Defects

Congenital heart defects can be diagnosed before birth, during childhood, or in adulthood. Diagnostic tests may include:

Fetal echocardiogram
Echocardiogram
Electrocardiogram (ECG or EKG)
Chest X-ray
MRI and CT scans
Pulse oximetry
Cardiac catheterization

Treating Congenital Heart Defects

Treatment for congenital heart defects depends on the type and severity of the defect. Options may include:

Medications

Medications can help manage symptoms and reduce strain on the heart. Common medications include:

Angiotensin II receptor blockers and ACE inhibitors
Beta-blockers
Diuretics

Procedures

Procedures to repair congenital heart defects can be performed using cardiac catheterization or open-heart surgery. Cardiac catheterization is less invasive and can be used to close holes or open narrowed valves or arteries. Open-heart surgery may be necessary for more complex defects.

Living with a Congenital Heart Defect

Many individuals with congenital heart defects can lead long, healthy lives with proper care and management. Regular check-ups with a cardiologist, a heart-healthy lifestyle, and being aware of potential complications can help ensure the best possible outcomes.

For more information on congenital heart defects, visit the following reputable sources:

The Bottom Line

Most structural heart defects are now highly treatable, with over 95% of children surviving to adulthood when properly managed. Early detection through newborn screening and prompt cardiology referral are crucial for optimal outcomes. If you notice signs like poor feeding, unusual fatigue, or bluish coloring in your child, Doctronic can help connect you with appropriate cardiac evaluation quickly.