Congenital Heart Disease

Significant congenital heart abnormalities are usually identified in childhood, but there is a possibility your scan may identify a structural anomaly that you were born with, such as a hole in the heart. This will need referral on to a Congenital Heart Disease specialist for further investigation.

What is Congenital Heart Disease?

Congenital heart disease (CHD) refers to a range of structural abnormalities of the heart that are present at birth. These defects can affect the heart’s walls, valves, or blood vessels and impact how blood flows through the heart and to the rest of the body.

CHD is the most common type of birth defect, occurring in around 1 in 100 live births globally. The severity of CHD can vary greatly, from simple conditions that cause no symptoms to complex issues that require immediate medical intervention.

How serious is Congenital Heart Disease? & Are there different types?

The seriousness of congenital heart disease varies widely, as while some defects are minor and may resolve independently or require minimal treatment, others are more severe and can be life-threatening.

CHD is broadly categorised into critical and non-critical forms:

1. Critical Congenital Heart Disease: This term refers to the most serious types of CHD that typically require surgery or other interventions within the first year of life. Examples include Hypoplastic Left Heart Syndrome, Transposition of the Great Arteries, and Tetralogy of Fallot. These conditions can severely impact the oxygenation of blood and overall heart function.
2. Non-Critical Congenital Heart Disease: These defects are less severe and might not require immediate intervention. The common types include Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD), and Patent Ductus Arteriosus (PDA). Although these conditions might not be immediately life-threatening, they can still cause significant health issues and often require medical attention.

Symptoms of CHD

Congenital heart disease symptoms can vary based on the specific type and severity of the defect. In some cases, symptoms may be present at birth, whilst in others, they might not appear until later in life.

Common symptoms include:

• Cyanosis: A bluish tint to the skin, lips, and fingernails due to low oxygen levels in the blood.
• Shortness of Breath: Particularly during feeding or physical activity in infants and children.
• Poor Feeding and Growth: Infants may struggle to feed properly and gain weight.
• Heart Murmurs: Unusual sounds heard during a heartbeat, indicating abnormal blood flow through the heart.
• Fatigue: General weakness and tiredness, especially during exertion.
• Swelling: In the legs, abdomen, or areas around the eyes due to fluid retention.

The causes of Congenital Heart Disease

Understanding what causes congenital heart disease involves examining both genetic and environmental factors, and whilst the exact causes of many CHD cases aren’t fully understood, several risk factors have been identified:

1. Genetic Factors: Genetic mutations and chromosomal abnormalities can increase the risk of CHD. Conditions like Down syndrome are associated with a higher incidence of heart defects. A family history of CHD also increases the likelihood of its occurrence.
2. Environmental Factors: Maternal health and environmental exposures during pregnancy play a significant role. Factors such as maternal diabetes, infections (e.g., rubella), exposure to certain medications, alcohol, and smoking during pregnancy are known to elevate the risk of CHD.
3. Multifactorial Inheritance: Often, CHD results from a combination of genetic predispositions and environmental influences. This multifactorial nature makes pinpointing a single cause challenging in many cases.

How is it diagnosed?

Early and accurate diagnosis of congenital heart disease is crucial for effective treatment, with the diagnostic process typically involving several steps and various techniques:

1. Prenatal Screening:
   • Ultrasound: Routine prenatal ultrasounds can sometimes detect heart defects before birth.
   • Foetal Echocardiography: A specialised ultrasound that provides a detailed view of the foetal heart’s structure and function, often used if there is a family history of CHD or other risk factors.
2. Postnatal Diagnosis:
   • Physical Examination: Doctors may detect heart murmurs or other signs during a routine check-up.
   • Echocardiogram: This test uses sound waves to create detailed images of the heart, allowing doctors to see the structure and function of the heart in detail.
   • Electrocardiogram (ECG): Measures the electrical activity of the heart to identify abnormalities.
   • Chest X-ray: Helps visualise the heart’s size and shape.
   • Pulse Oximetry: Measures the oxygen level in the blood, which can indicate heart problems.
3. Advanced Imaging and Tests:
   • MRI and CT Scans: Provide detailed images, useful in diagnosing complex defects.
   • Cardiac Catheterisation: Involves inserting a catheter into the heart to measure pressures, take blood samples, and sometimes treat defects.

Treatment for Congenital Heart Disease

The treatment for congenital heart disease depends on the type and severity of the defect, with options ranging from simple monitoring to complex surgical procedures:

1. Medical Management:
   • Medications: Diuretics, ACE inhibitors, or beta-blockers can help manage symptoms and improve heart function.
   • Regular Monitoring: Regular follow-up appointments are essential to monitor heart function and growth.
2. Surgical Treatment:
   • Open-Heart Surgery: Required to repair or replace defective heart structures. Procedures may involve patching holes, repairing valves, or reconstructing blood vessels.
   • Heart Transplant: In cases where the heart is severely damaged and other treatments are not viable, a heart transplant may be necessary.
3. Catheter-Based Procedures:
   • Balloon Angioplasty: Used to open narrowed blood vessels.
   • Device Closure: Involves inserting devices via catheter to close holes in the heart.
4. Hybrid Procedures: Combine surgery and catheter-based interventions for complex cases, providing a less invasive option with quicker recovery times.

The role of heart scans in identifying Congenital Heart Disease

Heart scans play a pivotal role in diagnosing and managing congenital heart disease. They provide detailed information about the heart’s structure and function, which is crucial for accurate diagnosis and treatment planning.

1. Echocardiograms: The most common and essential heart scan used in diagnosing CHD. It provides real-time images of the heart, allowing Doctors to see abnormalities in structure and function.
2. Foetal Echocardiography: Conducted during pregnancy, it helps in early detection and planning for interventions that might be needed immediately after birth.
3. MRI and CT Scans: Offer detailed cross-sectional images of the heart and surrounding blood vessels. These scans are particularly useful for complex cases where precise anatomical details are needed for surgical planning.
4. Cardiac Catheterization: Though more invasive, this procedure provides detailed information about the heart’s internal structures and pressures and can also be therapeutic.

For more information on our services, contact our helpful and friendly team today, or alternatively, you can book an appointment at one of our specialist clinics online now.

In conclusion, congenital heart disease is a complex condition overall with a wide spectrum of severity and manifestations. Early diagnosis through advanced imaging techniques, combined with tailored treatment plans, can significantly improve outcomes for individuals with CHD. Ongoing research and medical advancements continue to enhance the quality of life for those living with congenital heart disease.