Congenital Heart Disease (CHD): Symptoms, Types, Causes, Risks and Diagnosis

What does the word 'congenital' mean? It means to exist from birth. Congenital heart disease is the most common birth anomaly in the world. It is approximated that around 200,000 babies every year are born with this disease. However, thanks to improved diagnostic techniques, healthcare providers can detect most of these defects before the baby is born. Some types of congenital heart disease get detected after birth. Around 25% of these defects require surgery within the first year of the baby's life.

Congenital heart disease refers to the structural abnormalities in the heart from birth. It happens when the heart does not develop normally during pregnancy. It changes the way blood flows through the heart. Some common issues include holes in the heart wall and blood flowing in the wrong direction through blood vessels or dysfunctional heart valves. With advancements in medical care, babies born with this defect live long and healthy lives into adulthood. Let us learn more about the causes and types of this condition and how one can live with it.

How Do Congenital Heart Diseases Develop?

This condition develops due to structural defects and improper foetal heart development. Although pinpointing the exact causes is not possible, here are some probable reasons why it happens:

• Abnormality in the number and structure of chromosomes

• Environmental exposure to toxins such as chemicals released from smoke, recreational drugs and alcohol

• Viral infections during pregnancy

• Maternal chronic illnesses such as diabetes, phenylketonuria and autoimmune diseases

Symptoms of Congenital Heart Disease

Although undetected heart disease of this type is rare, there are cases where the indicators go unnoticed. Watch out for these congenital heart disease symptoms and signs:

• Rapid heartbeat 
• Blue-tinged skin, fingernails or lips (cyanosis)
• Shortness of breath
• Unexplained fatigue
• Swelling in the feet, ankles, eyes and hands
• Heart murmurs
• Weakened pulse
• Poor blood circulation
• Chest pain
• Abnormal heart rhythms
• Poor feeding by infants (getting tired while nursing)

Types of Congenital Heart Disease

Medical professionals classify congenital heart defects into two principal categories - cyanotic (reduced amount of oxygen) and non-cyanotic (abnormal blood circulation). Here are the common types of congenital heart disease:

1) Cyanotic Heart Defects

These are defects in which less than usual oxygen levels are available for the body. The skin develops a bluish tinge. Some examples of cyanotic heart defects are:

• Left and right heart obstructive lesions (undeveloped structures and blockages in the heart)

• Mixing lesions (mixing of pulmonary and systemic blood flow)

• Truncus Arteriosus (only one blood vessel leaving the heart instead of two)

• Transposition of arteries (the pulmonary artery and aorta get interchanged)

2) Non-Cyanotic Heart Defects

In this type, there is no deficiency in oxygen supply. However, blood circulation takes place abnormally. This defect affects the normal flow of blood. Some examples of non-cyanotic heart defects are:

• Aortic stenosis (narrowing of the aortic valve)

• Atrial septal defect (a hole in the septum or wall separating the heart chambers)

• Abnormal valve functioning

• Pulmonary stenosis (narrowing of the pulmonary valve)

Are There Any Risk Factors Involved?

Some significant factors may increase the baby's risk of developing congenital heart disease.

• Family history of heart disease

• Certain medications consumed during pregnancy

• Smoking or drinking alcohol during pregnancy

• Exposure to rubella (the virus that causes measles) during pregnancy

• Maternal obesity

• Foetal or chromosomal abnormalities

Diagnosis of Congenital Heart Disease

The diagnosis may take place through a prenatal risk assessment. Doctors may also conduct it after the baby's initial physical examination after birth. In rare cases where the congenital heart disease symptoms go unnoticed, the diagnosis occurs in adulthood. 

Here are the commonly conducted tests:

• A foetal echocardiogram (before the baby's birth) to look for heart defects

• Chest X-ray to detect structural changes in heart and lungs

• ECG (Electrocardiogram) to identify irregular heartbeats

• Pulse oximetry to determine the oxygen content in the blood

• Echocardiogram to determine the blood flow rate

• Stress tests to identify how your heart responds to physical activity

• Heart CT scan and MRI (magnetic resonance imaging)

Treatment and Prevention of Congenital Heart Disease

Some cases of congenital heart disease get better over time without treatment. Some may require surgery right after birth. Cardiovascular surgeons and pediatric cardiologists deal with these surgeries. 

Treatment may involve the following procedures:

• Cardiac catheterisation (an invasive surgery to improve blood flow or place plugs)

• Oxygen therapy

• Medications to regulate blood pressure and improve circulation

• Heart surgery to repair heart defects, replace heart valves or carry out heart transplants

• Insertion of implantable heart devices such as pacemakers and defibrillators

Lowering the risk factors is your best shot at preventing congenital heart disease. Here are some things you can do:

• Avoid alcohol consumption and smoking 

• Do not consume unknown and unnecessary medications

• Maintain a healthy weight during pregnancy

• Follow the recommended prenatal screening tests to diagnose the condition (if present) early.

Living with Congenital Heart Disease

Ongoing medical care, a healthy lifestyle and regular check-ups are essential for individuals with congenital heart disease. Cardiac rehabilitation programmes can help strengthen your heart and reduce risks and complications. Joining the community of support groups is also a great idea to cope with the condition better.

Conclusion

More than 90% of children with congenital heart disease live comfortably into adulthood. It speaks volumes about the advanced care and treatment procedures available for this condition today. Depending on the severity, a child may require invasive or minimally-invasive heart surgery to fix the issues. Appropriate medical management and periodic follow-ups with your healthcare provider improve the chances of living with this condition conservatively.
If you are looking for a reliable and affordable diagnostic centre for prenatal screening, heart ECG and CT/MRI scans or cardiac risk profiling, choose Metropolis Labs. Our skilled technicians use the latest state-of-the-art technology to conduct diagnostic tests. For appointments and further queries, you can contact us here.