Congenital Heart Disease Symptoms

Congenital heart disease is a structural abnormality of the heart present since the time of birth. These defects can potentially impact the walls, valves and blood vessels of the heart, disrupting its normal function. Congenital heart defects vary widely in severity—from mild conditions that may not present noticeable symptoms to complex issues. 

Thanks to significant advancements in medical care, most children born with heart defects now survive into adulthood. While some individuals may require lifelong monitoring and specialised care, many are able to lead active and fulfilling lives. This article delves into the symptoms associated with congenital heart disease and explores the available treatment options that empower patients to manage their condition and live healthy, productive lives.

Causes of Congenital Heart Disease

Several factors can increase the likelihood of a child being born with congenital heart disease (CHD). While the exact cause is not always known, here are a few causes that increase the possibility of having a CHD:

Genetic Factors

Certain genetic conditions passed down from one or both parents can significantly increase the risk of congenital heart disease (CHD). In some cases, CHD may run in families, further highlighting its hereditary nature. Down syndrome, a chromosomal disorder, is the most recognised genetic link, with about half of affected children born with heart defects such as septal defects. Other genetic conditions include Turner syndrome, which primarily affects females and often involves valve or artery narrowing, and Noonan syndrome, associated with pulmonary valve stenosis and other cardiac abnormalities.

Environmental Factors During Pregnancy

Pregnant women being exposed to environmental pollutants can increase the risk of congenital heart disease (CHD). Fine particulate matter (PM2.5), sulfur dioxide (SO₂), nitrogen dioxide (NO₂), ozone (O₃), and carbon monoxide (CO) are among the pollutants linked to higher CHD risk. Heavy metal exposure during pregnancy is also considered a potential risk factor. Smoking during pregnancy—including exposure to secondhand smoke—significantly raises the likelihood of CHD in the child, making it essential for pregnant women to avoid active and passive smoking.

Common Symptoms in Infants

Congenital heart defects typically do not cause pain, but their signs and symptoms can vary depending on the type, number, and severity of the defects.

Common symptoms of congenital heart disease in infants include:

• A bluish tint to the skin, lips, or fingernails. This condition is termed as cyanosis

• Unusual sleepiness or exhaustion, particularly during feedings

• Poor blood flow

• Shortness of breath during feedings, leading to poor weight gain and growth challenges

• Heart murmur

Symptoms in Children and Adolescents

Milder congenital heart defects may go undetected until later in childhood, as symptoms can appear gradually. In older children or adolescents, signs of congenital heart disease (CHD) often become noticeable during physical activity or daily routines. 

Common symptoms include:

• Easily becoming breathless during exercise or physical activities

• Feeling unusually tired or exhausted after mild exertion

• Episodes of fainting or dizziness, particularly during physical activity

• Puffiness in the hands, ankles, or feet due to fluid retention

Symptoms in Adults

In some cases, congenital heart defects may go unnoticed until adulthood, or symptoms may reappear years after treatment. It is important for adults with a history of congenital heart disease (CHD) to monitor their health closely. 

Common symptoms of CHD in adults include:

• Arrhythmias, which is a noticeable change in heart rhythm

• A bluish or greyish tint to the skin, lips, or fingernails due to low oxygen levels (Cyanosis)

• Difficulty breathing during routine activities or rest

• Feeling unusually tired or weak, particularly with physical activity

• Swelling in the hands, feet, or other parts of the body caused by body-fluid build-up

Diagnostic Approaches

The method of diagnosing congenital heart disease (CHD) in adults depends on factors such as family history and the timing or onset of symptoms.

• If there is a family history of CHD:

CHD can often be detected before birth through a prenatal ultrasound, typically performed between 18–22 weeks of pregnancy. If a congenital heart defect is identified, the healthcare team works with the family to create a comprehensive care plan for delivery and postnatal management.

• If symptoms develop later in life:

Diagnosis involves several steps and tests, including:

• Electrocardiogram (EKG): A painless test that evaluates heart rhythm and electrical activity.

• Physical Examination: To assess any visible or audible signs of CHD.

• Medical and Family History Review: To identify potential hereditary risk factors.

• Advanced Imaging Tests: Tests such as echocardiography (cardiac ultrasound), cardiac MRI, or CT scans provide detailed images of the heart’s structure and function, helping to confirm the diagnosis and guide treatment.

Differential Diagnosis

Congenital heart disease (CHD) stands apart from other heart conditions as it involves structural abnormalities present at birth. On the other hand, acquired heart diseases typically develop later in life due to lifestyle factors, infections, or ageing. CHD arises from improper heart development during foetal growth and may include defects such as septal abnormalities, valve malformations, or more complex cyanotic conditions.

A key difference lies in the timing and nature of symptoms. CHD often presents early in life with signs like cyanosis, rapid breathing, fatigue during feeding, or poor growth in infants. In contrast, acquired heart conditions—such as coronary artery disease or heart failure—emerge later and are often associated with risk factors like high blood pressure, high cholesterol, or unhealthy habits.

Importance of Accurate Diagnosis

An accurate diagnosis of congenital heart disease (CHD) is vital, as it lays the foundation for effective treatment and long-term management. Here’s why precision in diagnosis matters:

• Early Intervention: Prompt detection enables timely medical or surgical treatment, reducing the risk of complications.

• Enhanced Quality of Life: Proper diagnosis helps manage symptoms like cyanosis or fatigue, empowering individuals with CHD to live healthier, more active lives.

• Prevention of Complications: Identifying CHD early can help mitigate risks of serious secondary issues, such as arrhythmias, heart failure, or pulmonary hypertension.

• Support for Families: Diagnosis provides families with crucial insights for genetic counselling, future family planning, and preparing for long-term care needs.

Treatment and Management Options

The treatment plan for congenital heart disease (CHD) varies depending on the type and severity of the defect. Treatment options include:

• Medications: Medications can help the heart function more effectively. Some medications are used to prevent blood clots, while others are prescribed to regulate irregular heart rhythms.

• Implantable Heart Devices: Certain devices, such as pacemakers and implantable cardioverter defibrillators (ICDs), can prevent complications associated with CHD. 

• Catheter Procedures: These minimally invasive procedures involve inserting a thin tube (catheter) through a vein to repair defects without the need for open-heart surgery. Once the catheter reaches the heart, the doctor uses specialised tools to address the issue.

• Open-Heart Surgery: In more severe cases where catheter procedures are not sufficient, open-heart surgery may be necessary to repair heart valves, close holes in the heart, or widen blood vessels.

• Heart Transplant: For extremely complex or severe cases of CHD, a heart transplant may be the last resort. This involves replacing the child’s damaged heart with a healthy donor heart.

Living with Congenital Heart Disease

Living a fulfilling life with congenital heart disease (CHD) is entirely possible. By focusing on health, managing the condition, and maintaining a positive outlook, individuals with CHD can thrive. Here’s how:

• Regular Medical Care: Routine check-ups with a cardiologist ensure ongoing heart health, help prevent complications, and allow for timely adjustments to treatment plans.

• Healthy Lifestyle: Following a heart-healthy lifestyle by eating a balanced diet, exercising (as per your doctor's guidance), and avoiding smoking or excessive alcohol promotes overall well-being.

• Emotional Well-Being: Managing the emotional aspects of CHD is crucial. Seeking support through counselling or joining support groups can alleviate anxiety and stress, improving mental health.

Conclusion 

Congenital heart disease (CHD) includes a range of heart conditions that affect people from birth to adulthood. Early diagnosis and treatment are key to managing the condition and improving quality of life. And because of advances in medical care, many people with CHD live active, fulfilling lives. Regular check-ups, a heart-healthy lifestyle, and emotional support are important for managing the condition. Staying informed and making proactive choices can help individuals with CHD live healthier and happier lives.