Unstoppable Hearts: Congenital Heart Disease and Its Challenges

Congenital heart disease (CHD), or in simple terms, diseases of the heart that exist from childhood, is one of the most common inborn cardiac malformations diagnosed in newborns. In India, it is estimated that more than 200,000 births each year have some form of CHD. Approximately one-fifth of these require serious cardiac interventions. Most congenital heart conditions can be fixed with a single surgery, while others may necessitate two or more procedures. Some need no medical attention at all. Early diagnosis of the condition is critical for successful management.

CHD includes a variety of structural abnormalities in the heart that appear at birth. These flaws can affect the heart's walls, valves, arteries, or veins, creating blood flow issues and reducing the heart's capacity to pump blood efficiently. 

While some congenital heart defects are discovered and treated during childhood, others may not manifest until adulthood.

The types of CHD vary widely, ranging from simple (mild) to complex (severe) and critical (life-threatening) conditions. Simple defects may resolve on their own without the need for surgery. In some cases, babies with minor heart defects show no noticeable symptoms. Common examples of these less severe defects include:

• Septal defects: In this condition, there's a hole between the two chambers of the heart (commonly referred to as a "hole in the heart").
• Pulmonary valve stenosis: In this condition, the pulmonary valve, which regulates blood flow from the heart’s lower right chamber to the lungs, is too narrow. This makes it harder for blood to flow through, putting extra strain on the heart.
• Patent ductus arteriosus: The pulmonary artery carries deoxygenated blood from the heart to the lungs. Before a baby is born, there’s a special connection between the pulmonary artery and the aorta (the body's main large artery), allowing blood to skip the lungs since they aren’t working yet. After birth, this connection is supposed to close. In this condition, this connection doesn’t close, and deoxygenated blood flows the wrong way, making the heart and lungs work harder.

Complex or critical heart defects can lead to serious, life-threatening symptoms that require urgent medical intervention:

• Transposition of the great arteries: In this heart problem, the pulmonary valve and aortic valve are switched. This means the pulmonary artery, which should carry blood to the lungs for oxygen, is connected to the body instead. Meanwhile, the aorta, which normally sends oxygen-rich blood to the body, goes to the lungs. This mix-up means the body doesn't get enough oxygen, making it a critical condition that needs immediate surgery after birth to fix the position of the arteries.
• Underdeveloped heart: This condition occurs when part of the heart doesn't form correctly, making it hard for the heart to pump enough blood to the body or lungs.
• Tetralogy of fallot: This is a rare heart condition involving a combination of problems such as a hole between the heart's left and right chambers, a narrow pulmonary valve (which controls blood flow to the lungs), thickened muscle in the right chamber, and the aorta (the body's main large artery) being in the wrong position. This causes dangerously low levels of oxygen in the blood, which can sometimes make the baby look blue.
• Pulmonary stenosis: In this condition, the pulmonary valve, which controls blood flow from the heart's lower right chamber to the lungs, is narrower than it should be.
• Coarctation of the aorta: In this condition, the body's main large artery, the aorta, is narrower than normal, restricting blood flow.

CHD symptoms vary depending on the age of diagnosis. It also depends on the type of defect, its location, and its severity. Certain common symptoms include:

• Fatigue, or feeling constantly tired
• Rapid breathing and palpitations
• Shortness of breath during physical activities like sports, brisk walks, etc. 
• Bluish discolouration of the nails, lips and skin.
• Poor blood circulation, leading to swelling in the legs, abdomen, or around the eyes
• Heart murmurs — odd sounds that occur between heartbeats. Murmurs might sound like a whooshing or swishing noise, which can usually be heard by your doctor using a stethoscope.

CHD occurs when the heart doesn’t form correctly as the baby develops in the womb. In many cases, doctors are unsure of the exact cause. However, research indicates that genetics can sometimes be a factor.

These defects are often the result of changes or mutations in the child’s DNA, which may or may not be inherited from the parents. In rare instances, specific genes passed down from parents can lead to CHD, meaning that a parent with such a defect has a higher chance of passing it on to their child.

Other causes include:

• Infections during pregnancy — for example, a Rubella virus infection.
• Smoking and alcohol consumption during pregnancy; passive smoking is also harmful.
• Comorbidities of the mother, like diabetes.
• Some medications prescribed to pregnant mothers, such as those for high blood pressure or acne, can have effects on the developing baby.

Precautionary measures for CHDs include avoiding risk factors and the causative agents. However, there are no definitive preventive measures. 

• Lifestyle changes: Maternal lifestyle factors such as smoking, alcohol use, illicit drug use, and caffeine consumption can elevate the chances of congenital heart defects in babies. Mothers must refrain from using recreational drugs. Maintaining a healthy body mass index and good psychological well-being is also important for prevention. 
• Medical history: Parents should discuss any pregnancy-related complications with their doctor and work to manage the mother’s existing health conditions, modifying prescribed medications as advised. It’s essential to inform their healthcare providers about the pregnancy so that early tests and treatment plans can be established. Additionally, parents must undergo all recommended prenatal screenings to identify any potential issues early in the pregnancy.

The landscape of CHD has changed over the past decade. With recent advancements in technology and medical innovations, CHD in newborns is not a veil of despair for parents anymore. They ensure that children with CHD can reach adulthood and live a healthy life.

Dr Vijay Kumar Goyal, MBBS, MD (Psychiatry), adds, The real costs of CHD go beyond medical bills. It affects the child and the family physically, socially and emotionally. The multiple hospitalisations, breathing issues and restricted sporting activities affect families. I have seen some of my patients from rural areas discuss the myths and stigma related to ‘a hole in the heart’. India is on the brink of transformative CHD-related changes, and there is scope for more.

Managing CHD includes routine follow-up care, medication, heart-healthy habits, and regular physical activity. Monitoring mental health, avoiding smoking, and managing stress are also important. Medical vigilance, medications, and emergency planning can avoid complications.

Life with CHD involves careful management of challenges and exploration of the latest advancements in cardiac medicine. Over the previous three decades, India has made significant progress in managing children with CHD. Interactions with doctors and other front-line healthcare providers are required to enhance the overall outlook for children with CHD.

The risk factors of congenital heart disease include maternal smoking and alcohol consumption, infections such as rubella, drug use, and comorbidities like uncontrolled diabetes and phenylketonuria during pregnancy.

Congenital heart disease is a structural abnormality that is present from birth and affects  the heart's walls, valves, arteries, or veins, causing blood flow issues and reduced heart pumping capacity.

Complex Congenital heart diseases are heart defects that can cause life-threatening emergencies, such as low oxygen levels, and may require surgical treatment within the first year of life to improve the condition. It’s imperative to consult your doctor for the best course of action.

There are no definitive methods to avoid congenital heart disease. However, you can lower the risk by avoiding risk factors like drug addiction, smoking, or drinking during pregnancy and getting regular maternal health checkups.