Congenital Heart Defects (CHDs): Causes, Symptoms, Treatment

Written by Medicover Team and Medically Reviewed by Dr Bharath Reddy D , Cardiologist

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Congenital Heart Defects (CHDs) are structural problems of the heart that are present at birth. They occur when the heart or blood vessels near the heart do not develop normally during pregnancy. CHDs are the most common type of birth defect and affect nearly 1 in every 100 newborns worldwide.

These defects can vary from simple conditions that may never cause symptoms to complex issues that require surgery soon after birth. Advancements in medical care have greatly improved outcomes, allowing most children with congenital heart defects to live longer and healthier lives.

What are the Types of Congenital Heart Defects?

Congenital heart defects are grouped into categories depending on how they affect the structure and function of the heart. Some are mild and may close on their own, while others are more complex and require surgery soon after birth.

Septal defects or a Hole in the heart

These occur when there is an opening in the septum that separates the chambers of the heart. These defects allow blood to flow abnormally between heart chambers. For example, atrial septal defect (ASD) and ventricular septal defect (VSD).

Obstructive defects

These happen when blood flow is blocked or slowed down because of a narrowed heart valve or vessel. Examples include pulmonary stenosis, aortic stenosis and coarctation of the aorta.

Cyanotic heart defects

In these cases, the body receives blood with lower oxygen than normal, which causes bluish skin or lips. Examples are Tetralogy of Fallot and transposition of the great arteries.

Complex defects

Some babies are born with more than one problem in the heart. These are often the most serious and may include conditions like hypoplastic left heart syndrome, where the left side of the heart is underdeveloped.

This list of congenital heart defects helps doctors decide the right treatment plan, which may include medicines, surgery or long-term care.

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Signs and Symptoms of Congenital Heart Defects

The symptoms of congenital heart defects can look different depending on the type and severity of the condition. Some babies show signs immediately after birth and others may not show any noticeable symptoms until later in childhood or even adulthood.

• Rapid breathing or shortness of breath,
• Poor feeding and difficulty gaining weight,
• Cyanosis that is bluish color of lips, skin or nails.
• Excessive sweating during feeding.
• Fatigue or tiredness during play.
• Swelling in legs, abdomen or around the eyes.
• Irregular heartbeat or heart murmur detected during check-ups.

It is important to know that some mild congenital heart defects cause no obvious symptoms and may only be detected during regular health check-ups or an echocardiogram.

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Causes and Risk Factors of Congenital Heart Defects

The exact cause of congenital heart defects is not always clear. Most CHDs develop during the first weeks of pregnancy, when the baby's heart is forming. In many cases, genetic and environmental factors contribute to the condition.

• Genetic conditions: Some chromosomal disorders such as Down syndrome are linked with a higher risk of heart defects.
• Maternal health conditions: Some diseases like diabetes, obesity or viral infections during pregnancy can affect heart development.
• Medicines, alcohol and smoking: Some medicines, alcohol consumption and smoking during pregnancy can increase the risk of birth defects like CHDs.
• Family history: Having close relatives with congenital heart defects raises the chances of a baby being born with a similar condition.
• Environmental exposures: Contact with chemicals or toxins during pregnancy can interfere with normal heart development.

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What are the Complications of Congenital Heart Defects?

If congenital heart defects are not detected or treated on time, they can cause various side effects that affect a child's health and daily life. The type and severity of complications depend on the nature of the defect and how well it is treated.

Heart failure

The heart has to work harder to pump blood through abnormal pathways, which can weaken the heart muscle over time and result in heart failure.

Pulmonary hypertension

Increased blood flow to the lungs may cause high blood pressure in the pulmonary arteries, which makes breathing and oxygen exchange more challenging.

Developmental delays

Children with reduced oxygen supply or frequent hospitalisations can face delays in growth, learning or overall development.

Stroke and infection risks

Some defects increase the chance of blood clots that can cause stroke. Children with CHDs are also more prone to endocarditis, a serious infection of the heart lining.

Emotional and social challenges

Living with a chronic heart condition can impact a child's emotional health and social interactions. They may feel limited in physical activities compared to their peers, which can affect confidence and social participation.

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When to See a Doctor

Parents should seek immediate medical care if their child shows:

• Blue skin or lips during feeding or crying.
• Difficulty breathing or rapid breathing.
• Poor feeding and failure to gain weight.
• Extreme tiredness or fainting spells.
• A heart murmur was detected during routine check-ups.

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Diagnosis of Congenital Heart Defects

Congenital heart defects are detected during pregnancy, at birth or in early childhood. In some cases, mild defects may not be identified until later in life. Doctors use various imaging tests, physical examinations and specialised procedures to confirm the diagnosis.

• Prenatal ultrasound: Many heart defects can be seen before birth during a routine ultrasound. If a problem is suspected, a more detailed test called a fetal echocardiogram may be performed.
• Echocardiogram (echo): This is the most important test for CHDs. It uses sound waves to create detailed pictures of the heart's structure and shows how blood is flowing through the chambers and valves.
• Electrocardiogram: It records the electrical activity of the heart and detects irregular rhythms or stress on the heart muscle.
• Chest X-ray: This provides information about the size and shape of the heart and whether there is fluid in the lungs.
• Pulse oximetry: A small device placed on the finger measures oxygen levels in the blood. Low oxygen may suggest a heart defect.
• Cardiac catheterisation: In some cases, doctors insert a thin tube into a blood vessel leading to the heart to measure pressures and examine blood flow. It also provides detailed images and can sometimes be used to repair certain defects.

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Surgery and Treatments for Congenital Heart Defects

Treatment for congenital heart defects depends on the type of defect, its severity and the child's overall health. Some mild defects may close on their own and require only regular monitoring, while more complex cases may need surgery or lifelong care.

1. Medicines

Medicines are used to ease symptoms or prepare a child for surgery. These may include:

• Medicines that help the heart pump more effectively.
• Medicines to lower blood pressure and prevent fluid buildup.
• Blood thinners to prevent clots.
• Medicines to control irregular heart rhythms.

2. Surgery for Congenital Heart Defects

Surgery may be needed to correct the defect when medicines are not enough to treat the conditions:

• Open-heart surgery: It is used to repair holes in the heart, fix or replace valves or treat more complex problems.
• Catheter-based procedures: This is a less invasive option, where thin tubes are guided through blood vessels to repair defects without the need for open surgery.
• Heart transplant: In rare and very severe cases where the defect cannot be repaired, a heart transplant may be the only option.

3. Supportive Care

Children with congenital heart defects need long-term follow-up care and support:

• Regular check-ups with a pediatric cardiologist to monitor heart function.
• Lifestyle adjustments such as a healthy diet, controlled physical activity and avoiding infections that can stress the heart.
• In some cases, preventive antibiotics can lower the risk of heart infections or endocarditis.

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Congenital Heart Defect Life Expectancy

In the past, many children born with congenital heart defects had limited survival. However, with today's advances in surgery, medical care and pediatric cardiology, life expectancy has improved dramatically. Most children with CHDs can now grow normally, go to school, pursue careers and even start families of their own.

• Mild defects: Conditions such as small septal defects may close on their own and usually have little or no impact on lifespan.
• Moderate to severe defects: With proper treatment, many children live well into adulthood, although they may need lifelong treatment and supportive care.
• Importance of follow-up: Regular check-ups with a cardiologist are essential to detect any complications early such as arrhythmias, valve problems or heart failure, which may develop later in life.

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Congenital Heart Defects Prevention

Here, we have to know that not all congenital heart defects can be prevented but specific steps during pregnancy can reduce the risk of heart defects in babies.

• Vaccinations: Get vaccinated against infections such as rubella before pregnancy, since these infections can harm a baby's heart development.
• Managing health conditions: Control chronic diseases like diabetes, thyroid disorders and high blood pressure before and during pregnancy.
• Avoiding harmful substances: Stay away from alcohol, smoking and recreational drugs and always check with a doctor before taking medicines.
• Nutrition and supplements: Take prenatal vitamins with folic acid as recommended, since they support proper growth and development of the baby's heart and other organs.
• Regular prenatal check-ups: Frequent medical visits and ultrasounds during pregnancy can help detect problems early and ensure timely medical support if needed.

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Conclusion

Congenital heart defects are among the most common birth conditions but with early diagnosis, timely treatment and proper care, children with CHDs can live long and healthy lives. Advances in surgery and pediatric cardiology have improved survival and quality of life for many families.

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