Congenital Heart Disease: Understanding Your Child's Heart

24 May,2024

Having a child is a blessing in itself, but having a healthy child makes the event more joyful. In today's world, the prevalence of various diseases has increased. Multiple conditions can be present during birth, and congenital heart disease or defect (CHD) is one of them. It results from disruptions during fetal development, affecting the heart's structure, including chambers, valves, or blood vessels. 

Congenital heart defect, being a prevalent congenital disability globally, varies in severity, requiring diverse treatment approaches. According to the World Heart Federation, one out of every 100 children born around the world has CHD. Nearly half of the children with congenital heart disease will require medical intervention at some point in their lifetime, with a quarter needing it within the first year of life for survival.

Early detection of CHD is crucial for effective management, and prenatal screenings contribute to timely intervention. Treatment options, from lifestyle adjustments to surgical procedures, depend on the specific defects.

What is a Congenital Heart Disease?

Congenital heart disease comprises a range of structural or functional anomalies in the heart present at birth. These abnormalities, often affecting the heart chambers, valves, or blood vessels, result from irregularities during fetal development.

• The severity of congenital heart defects varies widely, from minor issues with little impact on health to complex conditions requiring immediate medical attention.
• While some individuals may lead everyday lives with mild issues, others face significant health challenges.
• Symptoms can include fatigue, difficulty breathing, or poor growth and may manifest at different stages of life.
• Early diagnosis is crucial, typically achieved through prenatal screenings or detecting symptoms soon after birth.
• Treatment options depend on the specific nature and severity of the defects. Lifestyle modifications or medications may be sufficient in less severe cases, while more complex conditions might require surgical intervention. 

Advancements in surgical techniques and medical technologies have improved outcomes for many individuals with congenital heart defects, allowing them to lead fulfilling lives with appropriate management and care.

What are the Different Types of Congenital Heart Disease?

Doctors categorize congenital heart diseases into two major subgroups – cyanotic congenital heart diseases (low blood oxygen level) and acyanotic congenital heart diseases (average blood oxygen level).

Cyanotic Congenital Heart Diseases

Cyanotic heart disease results in reduced oxygen delivery to the body. Babies born with cyanotic CHD typically have low oxygen levels and require surgery. Examples of cyanotic congenital heart disease include –

• Left heart obstructive lesions reduce blood flow from the heart to the rest of the body (systemic blood flow). Examples include hypoplastic left heart syndrome (when the left side of the heart is too small) and interrupted aortic arch (incomplete aorta).
• Right heart obstructive lesions reduce blood flow between the heart and the lungs (pulmonary blood flow). Examples include Ebstein anomaly, pulmonary atresia, tetralogy of Fallot, and tricuspid atresia (valves don't develop correctly).
• Mixing lesions cause a mix of systemic and pulmonary blood flow. One example is the transposition of the great arteries, a congenital condition in which the two main blood vessels leaving the heart are wrongly placed. Another is truncus arteriosus, in which the baby is born with a heart with only one main artery instead of two for carrying blood to the body.

Acyanotic Congenital Heart Diseases

In acyanotic congenital heart diseases, the heart pumps blood with a sufficient amount of oxygen in it. However, the blood is pumped abnormally around the body. Examples of acyanotic congenital heart disease are –

• Hole in the Heart: The heart can have a hole in one of its walls, which can be an atrial septal defect (ASD), atrioventricular canal, patent ductus arteriosus (PDA), or ventricular septal defect (VSD), depending on the location and position of the opening.
• Issues in Aorta: Acyanotic congenital heart disease also includes matters involving the aorta, the main artery carrying blood out from the heart to the rest of the body. This can consist of aortic coarctation, where the aorta is too narrow, or a problem with the aortic valve, which may be restricted in opening or have only two flaps instead of three (known as a bicuspid aortic valve).
• Issues in Pulmonary Artery: Furthermore, in acyanotic congenital heart disease, there can be a problem with the pulmonary artery, which carries blood from the right side of the heart to the lungs to receive oxygen. If this artery is too narrow, it is called pulmonary artery stenosis.

What are the Symptoms of Congenital Heart Disease?

In some cases where the defect is mild, the symptoms of CHD might be vague and difficult to notice till later in life. The symptoms vary greatly depending on the age, number of defects, severity of CHD, and the type of defect.

Common warning signs that congenital heart disease show are – 

• Chest pain
• Shortness of breath
• Cyanosis (blueish-grey skin due to low oxygen level)
• Wheezing and coughing
• Edema (swelling in legs, ankles, or feet)
• Fatigue (feeling tired very quickly)
• Uneven heartbeat (arrhythmias)
• Palpitations 
• Excessive sleepiness
• Heart murmur
• Weak pulse

One must consult an expert pediatric cardiologist if the child is experiencing unexplained chest pain, extreme shortness of breath, or loss of consciousness.

How are Congenital Heart Defects Diagnosed?

If the pediatric cardiologist suspects a congenital heart defect, they will perform a general physical examination. During physical examination, they will –

• Listen to the child's heart and lungs with the help of a stethoscope.
• Look for signs of a cardiac defect, such as cyanosis (a condition in which skin, lips, and fingernails become bluish).
• Look for symptoms like rapid breathing, shortness of breath, delayed growth, or signs of heart failure.

Based on the findings of physical examinations, the doctor may further order a few diagnostic tests to confirm the presence of a CHD. Some of the standard tests that help in detecting CHDs are –

• A fetal echocardiogram is a prenatal test that allows the cardiologist to confirm that the unborn child does not suffer from any heart disease.
• Echocardiogram and Electrocardiogram are used to check the heart for any abnormality and monitor its rhythm.
• Pulse oximetry measures the amount/level of oxygen in the blood. CHD patients have lower levels of dissolved oxygen in the blood, leading to cyanosis.
• Chest X-ray is used to determine any signs of inflammation or swelling around the heart and the lungs.

What are the Causes and Risk Factors of Congenital Heart Disease?

It's not possible to always identify the cause of congenital heart defects. Changes in genes, taking certain medications (especially during pregnancy), health conditions, environmental factors, and lifestyle factors such as smoking can all contribute to congenital heart defects.

Researchers have identified various risk factors that can increase the chances of a child being born with a heart defect. These include – 

• Genetics: A few gene mutations can increase the likelihood of CHDs by 50%. Heart defects are known to run in families. Down's syndrome is one of the most significant contributors to babies having congenital heart defects.
• Rubella: If the mother has viral infections such as rubella (German measles) during the first trimester, they can give birth to a child with CHD. It is a risk factor that can be easily avoided by getting tested for rubella and taking a vaccine before getting pregnant.
• Smoking: Smoking is a considerable risk factor for not just CHD but for various other diseases also. Smoking during pregnancy is not recommended, and mothers should quit the habit before it causes any trouble to the child.
• Alcohol: Drinking alcohol and consuming other drugs can lead to various abnormalities in children. Improper development of fetal heart structure is often associated with mothers who consume alcohol.
• Diabetes: Mothers who have type 1 or type 2 diabetes while they are pregnant have a high chance of having babies with poorly developed hearts. Keeping the blood sugar levels in normal range is necessary to minimize the risk. Gestational diabetes is generally not linked to CHD.
• Drugs: Taking medications such as isotretinoin (for acne), lithium (for bipolar disorder), and valproate (for seizures) during pregnancy is another risk factor for CHD. Discussing all the medications with the healthcare professional is vital for having a safe pregnancy. Doctors might change and prescribe safer medicines till the pregnancy is complete.

How can you Prevent Congenital Heart Disease?

Women who are pregnant or planning to get pregnant in the future can take certain precautions that do not necessarily provide a guarantee against CHD but reduce the risks to a significant extent. 

• Avoid smoking, alcohol consumption, and illegal drugs during pregnancy.
• Inform your doctors about your medical history and all the prescribed medications you are taking. It will help them plan a safe pregnancy for you. 
• Get rubella vaccination. Most people are vaccinated for certain diseases in childhood. However, if you are unaware of your vaccination status, getting tested while planning for the pregnancy is advisable.
• If you or your partner have a history of CHD, get genetic screening done to know if you are at risk of giving birth to a child with a heart defect.
• Mothers should regularly monitor their blood sugar levels if they have type 1 or 2 diabetes. Keeping diabetes under control is another way to reduce the chances of the child having CHD.

Always have an open discussion with your cardiologist whenever you plan to get pregnant. They can help you have a safe pregnancy and guide you in lowering the risks of congenital heart defects.

What are the Complications of Congenital Heart Disease?

Children born with heart defects are always at the risk of developing further problems. Complications of CHD might be present since birth or show up later in adulthood. Common complications associated with congenital heart defects are – 

• Development Problems: Development delay is one of the most significant complications of CHD. Children with heart defects often take longer to start walking and talking than their peers. They also suffer from learning disabilities such as impaired memory, problems understanding language, low attention span, and difficulty concentrating.
• Respiratory Tract Infection: RTIs or respiratory tract infections such as pneumonia are common in children with CHD. RTIs show symptoms such as cough, wheezing, and chest tightness.
• Endocarditis: Infection in valves and the lining of the heart, known as endocarditis, is another complication of congestive heart disease. If not treated, it can be fatal. Symptoms of endocarditis include high temperature, headache, night sweats, and chills. Treatment includes antibiotic injections, usually given at the hospital.
• Pulmonary Hypertension: Certain types of CHDs can increase the pressure inside the arteries connecting the heart and lungs. The condition is known as pulmonary hypertension. Symptoms of pulmonary hypertension include chest pain, extreme tiredness, feeling faint, and dizziness. 
• Arrhythmia: Irregular heartbeats, or arrhythmias, are a common complication of CHD. Ventricular arrhythmias are more concerning than aortic arrhythmias. Heart rhythm problems can be treated with pacemakers and implantable cardioverter defibrillators. 
• Sudden Cardiac Death: Complications of sudden cardiac death are uncommon in patients with CHD. People with ventricular arrhythmias are at risk of sudden cardiac death and are treated with an implantable cardioverter defibrillator (a device that delivers electric shocks to the heart). 
• Heart Failure: Heart failure is a condition in which the organ cannot pump enough blood to meet the whole body’s needs. It can occur soon after a child is born with a heart defect or as a later complication of CHD. Symptoms of heart failure include tiredness, breathlessness, and swelling in the abdomen, legs, ankles, or feet.
• Pulmonary Embolism and Stroke: Having a congenital heart defect puts children and adults at an increased risk of developing blood clots in the heart. These clots can travel up to the lungs (causing pulmonary embolism) and brain (causing stroke).

How are Congenital Heart Diseases Treated?

With advancements in medical sciences, the chances of diagnosing and successfully treating congenital heart defects are higher than ever. Several renowned cardiology hospitals have the latest techniques available to perform necessary surgical interventions. However, not everyone with CHD may require treatment, as some mild defects may resolve on their own. 

Treatment options for congestive heart disease depend on the severity of the case and the type of the defect. Common modalities available to treat CHD are – 

• Medications: Cardiologists recommend medications such as beta-blockers, ACE inhibitors, diuretics, and angiotensin receptor blockers to make the heart work properly. These medications also help control blood pressure and ease the burden on heart muscles. Doctors may also prescribe medicines to prevent blood clots, a common complication of CHD.
• Catheter-based Procedures: Cardiac catheterization is a specialized technique that uses catheters (thin, flexible tubes) to close a hole or to widen a narrowed artery or valve. Cardiologists can do catheter-based procedures just a few hours after the baby is born or months later. Valvuloplasty, angioplasty, device closure, and patch closure are the procedures done through cardiac catheterization.
• Implantable Devices: Certain complications of congenital heart disease can be managed with devices such as pacemakers and implantable cardioverter defibrillators (ICDs). Pacemakers help regularize irregular heartbeats, and ICDs help prevent sudden cardiac arrest.
• Open Heart Surgery: Cardiac surgeons might recommend open heart surgeries for patients having large and complex congenital heart defects. The procedure involves cutting open the breastbone to gain access to the heart. It is done under general anesthesia, and the patient does not feel any pain.
• Heart Transplant: A heart transplant is needed in certain CHD cases that can't be managed with medications and other surgical interventions. The heart transplant surgeon replaces the diseased heart of the child with a healthy heart from a donor.

Conclusion

Congenital heart defects are becoming more common. If you plan to get pregnant, it's important to consult a cardiologist to understand the risk factors and ensure a safe pregnancy. Not all children with heart defects require surgery, as some may close on their own. With advancements in medical technology, there are minimally invasive treatments for CHD. It's essential to educate yourself about your child's health issues to make informed choices.