Congenital Heart Disease: Symptoms Causes, Types and Treatment

Congenital heart disease (CHD) is a birth defect that affects the structure and function of the heart. Congenital means being born with a condition. Congenital heart disease is a common type of birth defect. Its symptoms and treatment depend upon the type of defect and its severity.

What are Congenital Heart Defects?

A congenital heart defect is a defect in the structure of the heart. It could be a hole in the heart wall, problems with the heart valves or issues with the blood vessels where the blood flows either too slowly or in the wrong direction.

Certain congenital heart defects may not cause any symptoms, but some others could be life-threatening.

Congenital heart defects may be detected either before birth or soon after birth. In some cases, the defects may not get detected until childhood, adolescence or adulthood.

How Common are Congenital Heart Defects?

Congenital heart defects are common types of birth defects. In India, it is estimated that more than 200,000 children are born with congenital heart defects every year.

Who is More Likely to Have a Baby with a Congenital Heart Defect?

Children with either parent having a congenital heart defect are more likely to be born with the condition. Having other family members with CHD and certain genetic conditions, specific medications, environmental factors, or maternal health conditions can also increase the risk of CHD.

What are The Different Types of Congenital Heart Defects?

The different types of congenital heart defects include:

• Atrial septal defect
• Atrioventricular canal defect
• Coarctation of the aorta
• Hypoplastic left heart syndrome
• Pulmonary Atresia
• Tetralogy of Fallot
• Total Anomalous Pulmonary Venous Return
• Tricuspid Atresia
• d-Transposition of the great arteries
• Truncus Arteriosus
• Vascular Rings
• Ventricular Septal Defect
• Wolff-Parkinson-White (WPW) Syndrome

Symptoms of Congenital Heart Disease

Symptoms of congenital heart disease may be noticed either soon after birth or later, in adulthood. Symptoms of congenital heart disease differ based on age, the severity of the condition, the type of heart defect and the number of heart defects. These include,

• Fatigue
• Breathing trouble
• Sleepiness
• Bluish skin, lips and nails
• Weak pulse
• Tiredness after an activity
• Oedema or swelling of organs
• Irregular heart rhythm or arrhythmia
• Poor blood circulation

Causes of Congenital Heart Disease

While doctors are not sure about why congenital heart disease develops, it occurs when the fetal heart does not develop correctly in the uterus. Congenital heart disease may be related to,

• Abnormal chromosomes
• Genetics
• Drinking or smoking during pregnancy
• Exposure to secondhand smoke
• Conditions in the mother, such as diabetes or viral infection during pregnancy
• Drug use

Treatment of Congenital Heart Defects

The treatment of congenital heart defects depends upon the severity of the condition. Minor heart defects require occasional check-ups to ensure the condition does not worsen.

Treatment methods include:

1. Medications to prevent blood clots and control irregular heartbeat
2. Surgeries and other procedures, such as
   • Implantable heart devices to control the heart rate
   • Catheter-based treatments
3. Open heart surgery
4. Heart transplant

Follow-up care for patients with congenital heart disease includes regular health check-ups, blood tests and imaging tests to check for any complications.

Diagnosis of Congenital Heart Defects

Heart defects are sometimes found soon after birth with the help of pulse oximetry. It is a painless test that uses sensors on the fingers and toes to detect if the oxygen levels are low. Sometimes, heart defects are found only during adulthood.

Tests that help diagnose congenital heart defects are:

• Physical Exam:

Doctors listen to the heart using a stethoscope to detect any abnormal sounds. They may also ask about family and medical history.

• Chest X-ray:

Doctors advise chest X-rays of the inside of the chest to study any structural abnormalities.

• Electrocardiogram:

An electrocardiogram or EKG or ECG is a painless test that measures the electrical activity in the heart. It tells how fast or slow the heart is beating. It can also help identify arrhythmia or irregular heartbeats.

• Echocardiogram:

In an echocardiogram, sound waves create images of a moving heart. It shows blood flow through the heart and the heart valves.

• Heart catheterization:

This test is done to check the blood flow and the blood pressure in the heart. A catheter is inserted into a blood vessel in the groin up to the heart to check how well the heart is pumping and circulating the blood. This test is also called cardiac catheterization or coronary angiography.

• Magnetic resonance imaging (MRI):

An MRI creates detailed images of the heart.

Does Adult Congenital Heart Disease (ACHD) Require Special Treatment?

Adult congenital heart disease requires special treatment or follow-up care as the surgical procedures conducted during their childhood may become less effective over time. They may require procedures that include,

• Repairing valves that are not functioning efficiently
• Inserting a stent to repair obstructions that develop in the systemic or pulmonary veins
• Repairing a recurrent coarctation of the aorta

Risk Factors Associated with Congenital Heart Disease

Certain environmental and genetic factors are associated with congenital heart disease. These include,

• Genetics: Congenital heart disease is often an inherited condition. If one of the parents has a congenital heart defect, it increases the risk for the baby.
• Diabetes: If the mother has type 1 or type 2 diabetes during pregnancy, it may affect the baby's heart. However, gestational diabetes does not put the baby's heart at risk.
• German measles: Having German measles or rubella may affect the development of the baby's heart in the womb.
• Medications: Medications, like lithium prescribed for bipolar disorder, or isotretinoin prescribed for the treatment of acne are linked to heart disease and birth defects.
• Alcohol: Consuming alcohol during pregnancy puts the baby's heart at risk of developing heart defects.
• Smoking: Smoking during pregnancy also puts the baby at risk of congenital heart disease. Quitting smoking is, therefore, vital.

Complications of Congenital Heart Disease

Congenital heart disease may cause other health conditions in later years. Complications of congenital heart disease include,

• Arrhythmia: A faulty heart signal may cause the heart to beat either too fast, too slow, or irregularly. A slow heart rhythm may require a pacemaker and a fast heart rhythm may require medication or in rare cases, an implantable cardioverter defibrillator to deliver an electric shock to the heart. This could stop the rhythm problem.
• Pulmonary hypertension: Certain types of congenital heart disease may cause blood pressure in the arteries to be higher than normal. Symptoms include shortness of breath, tiredness, dizziness, chest pain, and rapid heartbeat.
• Developmental problems: Certain milestones during childhood tend to get affected by congenital heart disease. For example, walking, speaking or physical coordination. Some children may have learning difficulties such as impaired memory, expression, understanding of language, low attention span, lack of focus and poor impulse control.
• Respiratory tract infections: People with congenital heart disease are at a higher risk of developing respiratory tract infections, such as pneumonia. Symptoms include coughing, wheezing, tightness in the chest and rapid breathing.
• Heart failure: Heart failure can occur soon after birth or later, as a complication if the congenital heart disease is left untreated.
• Blood clots: Congenital heart disease increases the risk of a blood clot forming in the heart and travelling up to the brain. This could lead to a stroke or pulmonary embolism or stoppage of blood supply to the lungs.

Advancements in the Treatment of Congenital Heart Defects (CHD)

The last few decades have witnessed tremendous advancements in the field of pediatric cardiology. These innovations have revolutionized the prognosis for many with CHD, transforming previously fatal conditions into manageable ones. Here are some key advancements:

1. Minimally Invasive Techniques: Catheter-based interventions have reduced the need for open-heart surgeries in many CHD cases. Through small incisions, doctors can guide catheters to fix septal defects, open narrowed valves, and widen blood vessels.
2. 3D Printing and Imaging: Advanced imaging techniques, combined with 3D printing, allow doctors to produce models of a patient's heart, giving them a tangible reference before performing surgeries or interventions.
3. Improved Surgical Techniques: The evolution of surgical approaches, equipment, and materials has increased the success rate and reduced the recovery time for many CHD surgeries.
4. Advancements in Heart Transplants: Enhancements in surgical techniques, paired with better immunosuppressive medications, have improved the outcomes for heart transplant recipients.
5. Neonatal Heart Surgery: Newborns with critical CHD can now undergo surgery immediately after birth. These early interventions can dramatically improve outcomes and quality of life.
6. Telemedicine: Remote monitoring and consultations have made specialist care accessible to patients even in remote areas. This has been especially crucial in monitoring and providing timely interventions for CHD patients.
7. Advanced Medications: The development of new drugs has improved the management of heart failure, arrhythmias, and other complications associated with CHD.
8. Integrated Care: Multidisciplinary teams, consisting of cardiologists, surgeons, nurses, nutritionists, and other specialists, ensure comprehensive care for CHD patients, addressing all their medical and psychosocial needs.
9. Patient and Family Education: Empowering patients and their families with knowledge about CHD has been pivotal. Better-informed patients tend to have better outcomes as they can actively participate in their care and follow-up.

Adult Congenital Heart Disease and Pregnancy

As pregnancy can put a strain on the heart, it is important for women with congenital heart disease to discuss the issue with their doctors before planning a baby.

Pregnant women with congenital heart disease need extra help from experienced doctors for their condition.

For women with congenital heart disease who become pregnant, the heart specialist will advise an echocardiogram for the baby in the 20th week to check if the baby has any evidence of congenital heart disease. 

Congenital Heart Disease Prevention

As very little is known about the causes of congenital heart disease, one can not avoid having a baby with the condition. Therefore, to reduce the risk of the disease, doctors advise the following:

• Vaccination against rubella and flu
• Avoiding alcohol and quitting smoking
• Controlling blood sugar levels
• Avoiding contact with people who may have an infection
• Folic acid supplement in the first trimester under the guidance of a gynecologist.
• Consulting the cardiologist before taking any medications or herbal supplements.

Living with Congenital Heart Defects

To ensure a healthy heart and prevent complications from congenital heart disease, doctors advise the following:

• Eat a healthy diet consisting of heart-healthy foods
• Exercise regularly
• Maintain a healthy weight
• Consult the doctor regularly to monitor the heart and address any complications
• Talk to the doctor before planning a baby to understand the risks involved
• Know about the particular heart defect and understand its complications.

Frequently Asked Questions

What Are The Types Of Congenital Heart Disease?

The following are major types of congenital heart disease:

1. Atrial Septal Defect (ASD): This is a hole in the septum, the wall that separates the two upper chambers (atria) of the heart. This defect allows oxygen-rich blood to leak into the oxygen-poor blood chambers, rather than flowing out to the body.
2. Atrioventricular Canal Defect: This defect is characterized by a large hole in the center of the heart where the walls between the atria and the ventricles meet. This can also involve one or both of the valves that regulate blood flow through the heart which may not form correctly.
3. Coarctation of the Aorta: This is a narrowing of the aorta, the main blood vessel that carries oxygen-rich blood from the heart to the rest of the body. This narrowing can increase blood pressure before the narrowing and decrease blood pressure after.
4. Hypoplastic Left Heart Syndrome (HLHS): This is a condition where the left side of the heart is underdeveloped. As a result, the heart can't effectively pump blood to the body.
5. Pulmonary Atresia: In this defect, the valve that allows blood to flow from the heart to the lungs is malformed, restricting blood flow to the lungs.
6. Tetralogy of Fallot: This is a combination of four related heart defects that commonly occur together, affecting the structure of the heart and causing oxygen-poor blood to flow out into the body.
7. Total Anomalous Pulmonary Venous Return (TAPVR): This is when the veins bringing blood back from the lungs don't connect to the left atrium as usual. Instead, they connect to the right atrium, leading to oxygen-rich and oxygen-poor blood mixing.
8. Tricuspid Atresia: Here, the tricuspid valve, situated between the right upper chamber (atrium) and the right lower chamber (ventricle), is either absent or abnormally developed. This disrupts the blood flow and causes the right ventricle to be underdeveloped.
9. d-Transposition of the Great Arteries: In this defect, the two main arteries leaving the heart are reversed. This results in oxygen-poor blood being circulated to the body.
10. Truncus Arteriosus: Here, the body and lungs share a single blood vessel, leading to a mixture of oxygen-rich and oxygen-poor blood being distributed throughout the body.
11. Vascular Rings: This is a variety of defects where blood vessels arising from or associated with the aorta encircle and compress the trachea and esophagus, leading to breathing and swallowing problems.
12. Ventricular Septal Defect (VSD): This is a hole in the septum between the two lower chambers (ventricles) of the heart. This can lead to oxygen-rich blood being pumped back into the lungs rather than out to the body.
13. Wolff-Parkinson-White (WPW) Syndrome: This is not a structural heart defect but a condition where an extra electrical pathway in the heart can lead to rapid heartbeats. It can be seen in individuals with or without CHD.

Each of these defects has its unique challenges and treatment modalities. Some may be managed with medications, while others might require surgical intervention.

What is The Most Common Congenital Heart Disease?

A ventricular septal defect is the most common congenital heart disease. It is a defect in which there is a hole in the wall that separates the two lower chambers of the heart.

What Causes Congenital Heart Disease?

Congenital heart disease is caused when the normal development of the heart is interrupted.

Can Congenital Heart Disease Be Cured?

The heart defect may get repaired, but congenital heart disease can not be cured.