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Congenital Heart Disease

Congenital heart disease (CHD) is a serious cardiac condition affecting thousands of newborns each year. This group of heart defects, present at birth, can adversely affect a child's health and development. From minor issues that may resolve on their own to complex problems requiring immediate medical attention, congenital heart disease includes a wide range of heart abnormalities. Let's explore the various types of congenital heart disease, their signs and symptoms, and potential causes. 

What is Congenital Heart Disease?

It refers to one or more problems with the heart's structure that are present at birth. This condition affects the heart's normal functioning and can change how blood flows through it. Congenital heart disease is one of the most prevalent types of birth defects.

The term "congenital" means that the condition exists from birth. However, some congenital heart problems may be identified before birth through prenatal screenings, while others may not show signs until later in childhood or even adulthood. These structural abnormalities occur when the heart or blood vessels do not form correctly in utero.

Congenital heart disease can involve various heart structures, including the arteries, valves, chambers, or the wall separating the chambers. 

Types of Congenital Heart Disease

There are at least eighteen distinct types of congenital heart defects, each with its characteristics and potential complications.

The following are some common types of congenital heart disease:

  • Atrial Septal Defect (ASD): An ASD occurs when a hole is present in the wall or septum of the two collecting chambers of the heart (the left and right atria). This allows oxygen-rich blood to leak into oxygen-poor blood chambers. 
  • Ventricular Septal Defect (VSD): In this condition, a hole develops between the lower chambers of the heart that causes blood to be pumped back to the lungs instead of to the body.
  • Complete Atrioventricular Canal Defect (CAVC): In CAVC, a large hole affects all four chambers of the heart and the transposition of the great arteries, in which the main arteries carrying blood away from the heart, are reversed.
  • Patent Ductus Arteriosus: When a baby grows in the mother's womb, a blood vessel called the ductus arteriosus directly connects the pulmonary artery to the aorta. When this connection does not close properly after birth, the lungs are forced to pump more blood into them, which causes the heart and lungs to work harder.
  • In rare cases, infants may have single ventricle defects affecting one lower chamber of the heart or complex conditions like tetralogy of Fallot, which features four distinct problems.
  • Other types of congenital heart problems include coarctation of the aorta, narrowing of the major blood vessel (artery) that supplies blood to the body, and Ebstein's anomaly, a malformed heart valve that doesn't close properly. 

Symptoms of Congenital Heart Disease

Some individuals suffering from congenital heart problems may not experience any signs, while others might develop symptoms later in life or even years after treatment.

In more severe cases, symptoms may become apparent shortly after birth, such as: 

  • A noticeable blue tinge to the skin, lips, and fingernails (cyanosis) 
  • Rapid breathing and a fast heartbeat 
  • Shortness of breath and extreme fatigue
  • Babies often struggle to gain weight due to shortness of breath during feeding
  • Children may tire easily during physical activities or experience fainting spells during exercise as they grow older. 
  • Swelling in various body parts, such as the legs, abdomen, hands, ankles, and feet
  • Adults with congenital heart disease might notice irregular heartbeats (arrhythmias) or experience a recurrence of symptoms years after initial treatment. 

Causes & Risk Factors of Congenital Heart Disease

The exact cause of CHDs remains unknown in most cases. However, researchers have identified several factors that may increase the risk of developing these heart problems:

  • Genetic Factors: Approximately 35% of cases are attributed to genetic causes. 
  • Family History: Having a parent or sibling with a congenital heart problem increases the risk for a child. 
  • Genetic Conditions: Down's syndrome, Turner syndrome, and Noonan syndrome are linked to a higher likelihood of congenital heart disease.
  • Environmental Factors: Exposure to deleterious substances during pregnancy, including alcohol, tobacco smoke, and some medications, may affect the heart's development. 
  • Maternal Health Conditions: Poorly controlled diabetes and infections like rubella and influenza during pregnancy have been linked to an increased risk of congenital heart problems.

Complications of Congenital Heart Disease

Congenital heart disease can lead to various complications, some of which may arise years after initial treatment, including: 

  • Irregular heartbeats or arrhythmias
  • Endocarditis (an infection of the heart's lining and valves) 
  • Increased risk of stroke
  • Pulmonary hypertension 
  • Heart failure 
  • Kidney disease
  • Liver disease
  • Increased risk of respiratory tract infections

Diagnosis

The diagnostic process often begins during pregnancy, with routine ultrasound scans potentially revealing cardiac abnormalities. Foetal echocardiography, performed between 18 and 22 weeks of gestation, provides a more detailed examination of the heart's structure.

After birth, doctors may detect congenital heart defect signs and symptoms during the newborn physical examination. However, some defects may not show symptoms for months or even years. If congenital heart disease is suspected, further testing is usually required to confirm the diagnosis, such as:

  • Echocardiography to create detailed images of the heart's structure and function. 
  • Electrocardiograms (ECGs) measure the heart's electrical activity
  • Chest X-rays reveal the size and shape of the heart & lungs
  • Pulse oximetry is a non-invasive test to analyse blood oxygen levels, which can indicate certain types of congenital heart disease. 
  • In some cases, cardiac catheterisation may be necessary to obtain more detailed information about blood flow and pressure within the heart.

Treatment for Congenital Heart Disease

Many mild heart defects may not require treatment and can improve over time. However, more serious conditions often necessitate medical intervention.

For some infants with patent ductus arteriosus, doctors utilise medication to close the opening. In cases where medication is ineffective, cardiac catheterisation or surgery might be necessary.

For more complex defects, doctors perform open-heart surgery. This can involve repairing holes in the heart, fixing narrowed blood vessels, or replacing faulty valves. 
In some cases, a heart transplant might be necessary, particularly for children with complex defects that cannot be surgically corrected or if the heart fails after surgery.

When to See a Doctor

It is crucial to seek medical attention if there are concerns about congenital heart disease. Parents should consult a doctor:

  • If they notice any signs or symptoms in their baby, such as a blue tinge to the skin or lips, rapid breathing, or difficulty feeding soon after birth
  • Adults who were born with a heart condition should make appointments for regular health checkups with a cardiologist or cardiac surgeon trained in treating congenital heart disease, even if they are not experiencing complications. 
  • If symptoms develop during childhood or adulthood, such as extreme tiredness, shortness of breath during exercise, or swelling in various body parts

Prevention

While congenital heart disease cannot be entirely prevented, there are steps that you can take to reduce the risk, such as: 

  • Pregnant women or those planning to become pregnant should focus on maintaining a healthy lifestyle and following medical advice.
  • Folic acid 400 micrograms daily intake is crucial, even before pregnancy. 
  • Avoid alcohol and tobacco during pregnancy, as these substances may increase the risk of heart defects and other health issues in the baby.
  • Women with diabetes should control blood sugar levels before and during pregnancy. Those with phenylketonuria should follow a special diet plan to manage their condition.
  • Pregnant women should consult their doctor about any medications they are taking, including over-the-counter and herbal remedies. 
  • Maintaining a healthy weight, vaccinating against infections like rubella, and avoiding exposure to harmful substances such as organic solvents can also help reduce the risk of congenital heart disease.

Conclusion

Managing congenital heart disease requires a comprehensive approach involving early detection, proper treatment, and ongoing care. The advances in medical technology and understanding of these conditions significantly impact improving outcomes for those affected. From prenatal diagnosis to lifelong monitoring, doctors play a crucial role in guiding parents, patients and families through the complexities of congenital heart problems. 

FAQs

1. How long does it take to recover from this treatment?

For minor interventions, such as catheter-based treatments, recovery may take a few days to weeks. However, open-heart surgeries typically require a longer recovery, ranging from several weeks to months. 

2. Can congenital heart disease be cured?

While most congenital heart problems can't be completely cured, the right treatment approach can manage them effectively. Advances in paediatric heart care have significantly improved outcomes, with 90% of children born with heart defects now expected to live long lives. 

3. How serious is the congenital heart disease?

The severity varies widely, ranging from mild defects that may not require treatment to complex conditions necessitating immediate medical attention. 

4. Can ECG detect congenital heart disease?

An electrocardiogram (ECG) can help detect some forms of congenital heart disease, but it is not always definitive. ECG changes may be present in certain congenital heart defects, often related to atrial or ventricular overload and enlargement. 

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