Congenital heart disease (CHD) is an umbrella term for a group of heart structure abnormalities that are present at birth. These defects can affect the heart’s walls, valves or blood vessels, impacting blood flow through the heart and to the rest of the body. CHD is among the most common congenital disorders, affecting nearly 1% of newborns in the United States each year. While some cases are mild and may not require immediate treatment, others can be life-threatening and necessitate medical intervention soon after birth.

Recent advancements in medical care have significantly improved outcomes for those with congenital heart disease, allowing many people to lead full and active lives. However, lifelong monitoring and specialized care are often necessary. Understanding congenital heart disease is essential to ensure early detection, proper management and optimal heart health across all stages of life. Increased awareness can help ensure that those affected receive the best possible care and support.

What Are the Types of Congenital Heart Disease?

CHD encompasses a wide range of structural abnormalities that can affect the function of the heart. These defects can vary in severity from mild conditions that improve with minimal treatment to complex issues that require surgical intervention. The types of congenital heart disease include:

Septal Defects

Commonly referred to as a hole in the heart, a septal defect is an opening in a wall that separates two heart chambers. The hole may allow blood to flow abnormally between chambers, potentially leading to complications over time. The types of septal defects include:

• Atrial septal defect (ASD) – A hole in the wall between the heart’s upper chambers (atria), which can lead to extra blood flow to the lungs
• Ventricular septal defect (VSD) – A hole in the wall between the heart’s lower chambers (ventricles), which can increase the workload of the heart and lungs

Valve Defects

A valve defect can interfere with blood flow through the heart by altering one or more heart valves. This can restrict blood flow or cause leakage, making it more difficult for the heart to function efficiently. The types of valve defects include:

• Pulmonary valve stenosis – A narrowing of the pulmonary valve, which can restrict blood flow from the heart to the lungs
• Aortic valve stenosis – A narrowed or improperly formed aortic valve, which can make it more difficult for the heart to pump blood throughout the body

Obstructive Defects

An obstructive heart defect is a narrowing or blockage in a blood vessel, which forces the heart to work harder to pump blood throughout the body. If left untreated, the condition can lead to high blood pressure and other complications, such as irregular heart rhythms (arrhythmias). The types of obstructive heart defects include:

• Coarctation of the aorta – A narrowing of the aorta, which forces the heart to work harder to pump blood to the lower body
• Hypoplastic left heart syndrome (HLHS) – An underdeveloped left side of the heart, which requires immediate medical intervention after birth

Cyanotic Heart Defects

A cyanotic heart defect can reduce the amount of oxygen in the blood, leading to symptoms such as a bluish skin tone (cyanosis). Often, the condition requires surgical intervention to improve blood circulation and oxygen delivery. The types of cyanotic heart defects include:

• Tetralogy of Fallot (TOF) – A combination of ventricular septal defect, overriding aorta, pulmonary stenosis and right ventricular hypertrophy, which reduces blood oxygen levels and often causes cyanosis
• Transposition of the great arteries (TGA) – A rearrangement of the two main arteries leaving the heart, which disrupts normal blood circulation

Single Ventricle Defects

A single ventricle defect occurs when one of the heart’s ventricles is underdeveloped or does not function properly. This can severely impact the heart’s ability to pump blood efficiently. The types of single ventricle defects include:

• Tricuspid atresia – A missing or underdeveloped tricuspid valve, which prevents normal blood flow between the heart’s chambers
• Double-outlet right ventricle (DORV) – Two openings in the lower right heart chamber (instead of one) for blood to exit the heart, which affects oxygen delivery

What Causes Congenital Heart Disease and What Are the Risk Factors?

Heart development is a highly intricate process that occurs during fetal growth. Disruptions in early pregnancy can interfere with the proper formation of the heart or its major blood vessels. While the exact cause of CHD is often unknown, research suggests that certain genetic and environmental factors may contribute to its development. These include:

• Environmental exposures – Certain harmful chemicals and toxins can disrupt fetal heart development, as can alcohol consumption and drug use during pregnancy.
• Genetic mutations – CHD runs in some families, suggesting a genetic component.
• Inherited conditions – Some congenital heart defects are also linked to genetic syndromes, such as Down syndrome.
• Maternal health conditions – Pregnant women with certain medical issues, such as diabetes, obesity or rubella (German measles), are at heightened risk of having a baby with CHD.

Known risk factors for congenital heart disease include:

• Advanced maternal age – Babies born to women older than 35 have a slightly elevated risk of congenital heart defects.
• Certain assisted reproductive technologies – Some studies suggest that babies conceived through in vitro fertilization (IVF) may have a marginally increased risk of CHD.
• Family history – A CHD diagnosis increases the likelihood of congenital heart defects in future generations.
• Premature birth – Babies born prematurely are more likely to have heart abnormalities than full-term babies.

What Are the Warning Signs and Symptoms of Congenital Heart Disease?

CHD symptoms can vary depending on the type and severity of the heart defect. In many cases, the condition is detected at birth or during infancy; however, a mild defect may not become apparent until later in life. Recognizing the early warning signs of congenital heart disease can help ensure timely medical intervention and a better outcome.

Congenital Heart Disease Symptoms in Newborns and Infants

Severe CHD is often identified shortly after birth due to its noticeable symptoms, which may include:

• Cyanosis – Bluish skin tint resulting from low blood oxygen levels
• Difficulty breathing – Rapid or labored breathing, especially during feeding
• Excessive sweating – Fluid release from sweat glands during feeding or minimal activity
• Poor feeding and slow weight gain – Lack of interest in nutrition or refusal to eat as the heart struggles to pump blood efficiently
• Swelling in the legs or around the eyes – Fluid buildup due to poor blood circulation

Congenital Heart Disease Symptoms in Older Children and Adults

Sometimes, CHD is not detected until late childhood or adulthood. Possible symptoms include:

• Arrhythmias – Rapid, slow or skipped heartbeats
• Dizziness – Lightheadedness or fainting due to reduced blood flow to the brain
• Fatigue – Persistent tiredness or weakness
• Shortness of breath – Difficulty breathing, especially during physical activity
• Swelling in the hands, ankles or feet – Fluid retention caused by poor blood circulation

How Is Congenital Heart Disease Diagnosed?

Depending on its severity, CHD may be diagnosed at different stages: before birth, shortly after birth or later in life. Early detection is essential for effective management and treatment. The diagnostic process typically involves a combination of physical examination, imaging tests and specialized heart studies.

Diagnosis of Congenital Heart Disease Before Birth

In some cases, CHD can be detected before birth during a routine prenatal screening, such as:

• Fetal echocardiogram – Performed during pregnancy, this specialized ultrasound examination focuses specifically on the developing baby’s heart.

Diagnosis of Congenital Heart Disease in Infants and Children

After birth, CHD may be suspected due to its symptoms, such as cyanosis, difficulty breathing and heart murmur. Medical tests that can be used to confirm the diagnosis include:

• Chest X-ray – Radiologic images can help the physician identify an enlarged heart or fluid buildup in the lungs.
• Echocardiogram – An ultrasound examination of the heart can provide detailed visuals of its structure and function.
• Electrocardiogram (ECG or EKG) – An EKG measures the heart’s electrical activity, which can help the physician detect irregular heart rhythms.
• Pulse oximetry – This noninvasive test measures oxygen levels in the blood, which may signal a heart problem.

Diagnosis of Congenital Heart Disease in Older Children, Teenagers and Adults

If CHD goes undetected in infancy, it may be suspected later in life if it causes noticeable symptoms, such as fatigue, shortness of breath and arrhythmias. Medical tests that can be used to confirm the diagnosis include:

• Cardiac catheterization – The physician inserts a thin tube (catheter) into a chamber or vessel of the heart to assess blood flow and measure pressure.
• Cardiac magnetic resonance imaging (MRI) or computed tomography (CT) scans – Advanced imaging techniques provide detailed visuals of the heart and blood vessels.
• Stress test – While the patient exercises or takes medication that simulates the effects of physical activity, the physician evaluates the heart’s function.

How Is Congenital Heart Disease Treated?

CHD treatment can vary depending on the type and severity of the heart defect. While a “wait and watch” approach may be appropriate for a mild case, a complex condition may require active management. Advances in medical care have significantly improved outcomes for individuals with congenital heart disease, allowing many to lead healthy lives with proper treatment.

Medications for Congenital Heart Disease

In some cases, medications can help manage CHD symptoms and improve heart function. Options may include:

• Beta-blockers or angiotensin-converting enzyme (ACE) inhibitors – Can reduce strain on the heart and improve blood flow
• Blood thinners (anticoagulants) – Can help prevent blood clots in individuals with certain heart defects
• Diuretics – Can help reduce fluid buildup in the lungs and bodily tissues

Minimally Invasive Procedures for Congenital Heart Disease

Certain congenital heart defects can be treated with a catheter-based procedure, which is generally less invasive than open-heart surgery. Options may include:

• Balloon angioplasty or valvuloplasty – Involves inflating a small balloon-like device inside a narrowed blood vessel or heart valve to widen it and improve blood flow
• Device closure – Involves sealing a septal defect with a catheter

Surgical Treatment for Congenital Heart Disease

A complex heart defect may require surgical repair, such as:

• Open-heart surgery – May be considered to correct a complex defect, such as a malformed heart valve or hole between heart chambers
• Heart transplant – May be necessary for severe cases when the heart is unable to function properly

What Are the Possible Complications and Long-Term Effects of Congenital Heart Disease?

CHD treatment can dramatically improve heart function and quality of life; however, some individuals may still face ongoing challenges and complications. The severity can vary depending on the type of heart defect, the success of its treatment and the overall health of the patient. Early detection and ongoing care are critical to minimizing risks and managing long-term effects.

Potential Complications of Congenital Heart Disease

Even with treatment, some individuals with CHD may experience complications, such as:

• Arrhythmias – Some heart defects can trigger abnormal heart rhythms, which may cause dizziness, fainting and, in severe cases, stroke.
• Blood clots – Certain defects, such as ASD, and mechanical heart valves can increase the risk of blood clots, possibly leading to stroke and other serious health issues.
• Endocarditis – A bacterial infection of the heart lining may develop with CHD, and the risk increases if the defect is uncorrected or the patient has a prosthetic heart valve.
• Heart failure – Over time, the heart may weaken and struggle to pump blood effectively, which can cause fatigue, fluid retention and shortness of breath.
• Pulmonary hypertension – Poor blood flow can increase blood pressure in the lungs, potentially causing shortness of breath and fatigue.

Possible Long-Term Effects of Congenital Heart Disease

Even when CHD complications are managed successfully, some patients face long-term health concerns, such as:

• Emotional and psychological effects – CHD is a chronic condition that can create mental health challenges, such as anxiety or depression, due to concerns about heart health or activity limitations.
• Growth and developmental delays – Children with severe CHD may lag in physical growth and developmental milestones, particularly if the heart defect affects overall health.
• Reduced exercise tolerance – Some people with CHD may experience physical limitations due to reduced heart function or other cardiovascular issues.

How Can Congenital Heart Disease Be Prevented?

CHD cannot always be prevented. Many cases are linked to a combination of genetic factors and environmental influences. Understanding and managing the risks—both before and during pregnancy—can promote optimal heart health for mother and baby.

Some preventive strategies that can help lower the risk of congenital heart defects include:

• Avoiding alcohol and drugs – A pregnant woman should not drink alcoholic beverages or use recreational drugs. These harmful substances can interfere with fetal development and increase the likelihood of CHD.
• Getting vaccinated – Before planning a pregnancy, it is important for the woman to confirm that all recommended vaccinations are up to date. Certain infections, such as rubella, have been linked to birth defects.
• Managing pre-existing health conditions – Before and during pregnancy, the woman should take appropriate steps to manage diabetes, obesity, high blood pressure and any other medical conditions associated with congenital heart disease.
• Seeking genetic counseling – If the woman has a family history of CHD or a known inherited predisposition, genetic counseling can provide valuable insights about her risk level.
• Taking folic acid – Folic acid supplementation before and during pregnancy can reduce the risk of certain birth defects, including heart problems.

Routine prenatal care and screening tests are essential for early detection of fetal heart issues, which can help ensure that the baby will receive prompt and appropriate care if needed.

Living With Congenital Heart Disease

Many individuals with CHD require lifelong follow-up care to monitor heart function and prevent complications. Regular checkups with a cardiologist, a heart-healthy lifestyle and, in some cases, additional treatments later in life can help manage the condition effectively.

Benefit From World-Class Care at TGH

Tampa General Hospital’s Heart and Vascular Institute offers comprehensive care for congenital heart disease patients of all ages. Additionally, adults experiencing heart failure due to a congenital heart defect may be referred to our Heart Transplant Program, where our exceptional team performs a high volume of successful heart transplants every year. As a testament to our excellence, U.S. News & World Report has named us One of the Nation's Best Hospitals for Heart & Vascular Care and a High Performing Hospital for Heart Attack and Heart Failure treatment for 2024-25.

If you would like to learn more about congenital heart disease, contact TGH at (813) 844-3900 or email heart-vascular@tgh.org to request an appointment with a member of our team.