Congenital heart disease (CHD) affects nearly 1% of births worldwide, making it the most common type of birth defect. These structural problems with the heart develop before birth and can range from simple conditions with minimal symptoms to complex defects requiring immediate medical intervention. With medical advances, more children with CHD are surviving into adulthood, creating a growing population of adults living with these conditions.

What Causes Congenital Heart Disease?

Congenital heart defects develop during the early weeks of pregnancy when the heart is forming. While many cases occur without a clear cause, several factors can increase the risk:

Genetic factors: Certain genetic disorders, such as Down syndrome, Turner syndrome, and Marfan syndrome, are associated with heart defects.

Environmental exposures: Maternal exposure to certain substances during pregnancy can impact heart development, including:

• Alcohol consumption
• Certain medications (including some antiseizure drugs and acne treatments)
• Viral infections (particularly rubella)
• Poorly controlled diabetes

Family history: Having a parent or sibling with a congenital heart defect increases the risk.

Common Types of Congenital Heart Defects

CHD encompasses numerous specific defects that affect different parts of the heart:

Septal defects: Holes in the walls between heart chambers, including atrial septal defects (ASD) and ventricular septal defects (VSD).

Valve abnormalities: Problems with heart valves that may be narrowed (stenosis), leaky (regurgitation), or improperly formed.

Outflow tract obstructions: Narrowing in the vessels leaving the heart, such as pulmonary stenosis or aortic stenosis.

Complex defects: Combinations of problems that severely alter blood flow, such as tetralogy of Fallot or transposition of the great arteries.

Recognizing the Signs and Symptoms

Symptoms vary widely depending on the type and severity of the defect. Some children show no symptoms, while others develop immediate problems after birth.

In newborns and infants:

• Bluish discoloration of the skin (cyanosis)
• Rapid breathing or difficulty breathing
• Poor feeding and weight gain
• Swelling in the legs, abdomen, or around the eyes
• Fatigue during feeding

In older children:

• Easily tiring during physical activity
• Shortness of breath during exercise
• Fainting during physical exertion
• Swelling in hands, ankles, or feet
• Heart rhythm abnormalities

In adults with undiagnosed or untreated CHD:

• Decreased exercise capacity
• Heart rhythm problems
• Bluish skin color
• Heart failure symptoms

Diagnosis and Screening

Medical advances have significantly improved early detection:

Prenatal screening: Fetal echocardiography can detect many heart defects before birth, allowing for planned delivery at specialized centers.

Newborn screening: Pulse oximetry measures oxygen levels in the blood and can identify babies who may have critical CHD.

Diagnostic tools: When CHD is suspected, tests may include:

• Echocardiogram
• Electrocardiogram (ECG)
• Chest X-ray
• Cardiac MRI
• Cardiac catheterization

Treatment Approaches

Treatment depends on the type and severity of the defect:

Watchful waiting: Minor defects may require only regular monitoring.

Medications: Drugs to help the heart work better, control blood pressure, or prevent blood clots.

Catheter-based procedures: Minimally invasive techniques to repair certain defects without open surgery.

Surgical repair: Open-heart surgery to close holes, repair valves, or correct complex defects.

Heart transplantation: For the most severe cases that cannot be repaired.

Living with Congenital Heart Disease

Most people with CHD now survive into adulthood and can lead active lives. Key aspects of managing CHD long-term include:

Lifelong cardiac care: Regular checkups with cardiologists specialized in CHD.

Activity guidelines: Most patients can participate in physical activity with appropriate guidelines.

Pregnancy considerations: Women with CHD require specialized care during pregnancy.

Infection prevention: Some patients need antibiotics before dental procedures to prevent heart infections.

Recent Advances

The landscape for CHD treatment continues to improve:

3D printing: Creates models of individual hearts to plan complex surgeries.

Improved devices: Smaller, more effective devices for catheter-based repairs.

Tissue engineering: Research toward growing replacement heart valves and tissues.

Adult CHD programs: Specialized care for the growing population of adults with CHD.

Congenital heart disease management has transformed dramatically in recent decades. With early detection, advanced treatments, and proper follow-up care, most patients with CHD can expect good quality of life and increasing longevity