Congenital Heart Disease (CHD) Treatment in Delhi, India

Congenital heart disease (CHD) refers to a group of structural or functional abnormalities present in the heart that exist from birth. These abnormalities can affect the heart's walls, valves, or blood vessels and may disrupt the normal flow of blood through the heart. Congenital heart defects develop during foetal growth and can vary widely in complexity and severity.

Defects are groups into two main categories:

1. Acyanotic Congenital Heart Disease: A group of heart defects which put volume load (Hole in the heart or shunt lesions) or pressure load (obstructive lesions) on the heart .
2. Cyanotic Congenital Heart Disease: A group of heart defects causing low blood oxygen, leading to a bluish skin colour (cyanosis). This group comprise of more serious cardiac defects like TGA, TAPVC, single ventricle, pulmonary atresia etc.

Acyanotic Congenital Heart Diseases

• Atrial Septal Defect (ASD): A hole in the wall between the upper chambers of the heart (atria).
• Ventricular Septal Defect (VSD): A hole in the wall between the lower chambers of the heart (ventricles).
• Atrioventricular Canal Defect: A combination of defects affecting the valves and walls between the upper and lower chambers.
• Partial Anomalous Pulmonary Venous Return: A defect where some pulmonary veins from the lungs connect to the wrong chamber.
• Patent Ductus Arteriosus (PDA): A persistent connection between the aorta and pulmonary artery that normally closes shortly after birth.
• Patent Foramen Ovale: Patent foramen ovale(PFO) is not categorized under cardiac defect. PFO is a small hole in the wall between the upper chambers that normally closes shortly after birth.
• Coarctation of the Aorta: A narrowing of the aorta, the main artery carrying blood from the heart to the body.
• Aortic Stenosis: It is obstruction to blood flow from left ventricle and usually due to abnormal formation of aortic valve (bicuspid aortic valve). The cause of obstruction can be due to membranous structure below the valve or above the valve .
• Pulmonary valve Stenosis: Narrowing of the pulmonary valve, controlling blood flow from the right ventricle to the lungs.
• Congenital Mitral Valve Anomalies: Defects in the mitral valve, controlling blood flow between the left atrium and ventricle. Usually occur in combination with other lesions like aortic valve abnormality, aortic arch narrowing , VSD, etc.
• Double-outlet Right Ventricle: A rare defect where both the aorta and pulmonary artery arise from the right ventricle. It is always associated with large VSD.
• Ebstein Anomaly: A malformation of the tricuspid valve, controlling blood flow between the right atrium and ventricle leading to leakage in valve (tricuspid regurgitation). Child with Ebstein anomaly presents with heart beat problems, bluishness, or features of heart failure.
• Eisenmenger Syndrome: A complication of a congenital heart defect causing high blood pressure in the lungs if not treated on time. This is due to irreversible damage to lung vasculature. It is a preventable complication by timely correction of heart disease .

Cyanotic Congenital Heart Diseases

• Pulmonary Atresia: A blockage of the pulmonary valve, controlling blood flow from the right ventricle to the lungs. Ventricular septum can be intact or there could be a large VSD. These babies present in neonatal period with severe cyanosis as ductus arteriosus start restricting after birth.
• Tetralogy of Fallot: A combination of four defects: large ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy.
• Total Anomalous Pulmonary Venous Return (TAPVR): A defect where all pulmonary veins connect to the wrong chamber of the heart.
• Transposition of the Great Arteries: A defect where the aorta and pulmonary artery are switched in position.
• Tricuspid Atresia: A blockage of the tricuspid valve, controlling blood flow between the right atrium and ventricle.
• Truncus Arteriosus: A single large artery arising from the heart instead of separate aorta and pulmonary artery.
• Hypoplastic Left Heart Syndrome: A severe defect where the left side of the heart is underdeveloped.
• Vascular Rings: Abnormal bands of tissue around the trachea and oesophagus that can compress them.

Rhythm Abnormalities

• Long QT syndrome: An inherited heart rhythm disorder that can cause fainting or sudden death.
• Wolff-Parkinson-White (WPW) Syndrome: An abnormal electrical pathway in the heart that can cause rapid heartbeats.

While the exact cause of most congenital heart defects remains a mystery, researchers have identified several factors that may play a role:

Genetics

Congenital heart disease often has a familial connection, showing a tendency to be passed down through generations and being linked to various genetic conditions. For example, Down syndrome is frequently accompanied by heart defects. Genetic testing can identify these conditions during foetal development.

Medications

Certain medications taken during pregnancy, such as lithium for bipolar disorder and isotretinoin (Claravis, Myorisan, others) for acne treatment, have been associated with a higher risk of congenital heart disease and other birth defects. It is essential to inform the healthcare provider about any medications one is taking.

Diabetes

The presence of either type 1 or type 2 diabetes during pregnancy can affect the baby's heart development. However, it's worth noting that gestational diabetes typically does not increase the risk of congenital heart disease.

German Measles (Rubella)

Contracting rubella during pregnancy can adversely affect the heart's development in the unborn child.

Smoking

Those who smoke must quit smoking during pregnancy, as it raises the likelihood of congenital heart defects in the baby.

Alcohol

Consuming alcohol during pregnancy has been linked to an increased risk of heart defects in the developing baby.

Common symptoms of congenital heart disease include:

• Features of heart failure - 
• Fast breathing, feeding difficulty, poor weight gain.
• Recurrent chest infection requiring hospitalization.
• Blueish discoloration of nails, lips.
• Heart enlargement detected on CXR for chest infection.
• Murmur (abnormal heart sound) on routine evaluation.

Grown up child presents with:

• Shortness of Breath: Difficulty breathing, especially during physical activity or exertion.
• Fatigue: Persistent tiredness or a feeling of exhaustion, unrelated to normal daily activities.
• Cyanosis: Bluish tint to the skin or lips due to inadequate oxygenation of the blood.
• Swelling (Edema): Fluid retention leading to swelling, particularly in the legs, abdomen, or other parts of the body.
• Irregular Heartbeat (Arrhythmia): Abnormal heart rhythm, palpitations, or a sensation of fluttering in the chest.
• Dizziness or Fainting: Feeling lightheaded, dizzy, or experiencing fainting spells.
• Chest Pain: Discomfort, pressure, or pain in the chest, especially during physical activity.
• Poor Exercise Tolerance: Inability to tolerate physical exertion or exercise compared to peers.

It's important to note that the specific symptoms can vary depending on the type and severity of the congenital heart disease. If someone experiences any of these symptoms, they must seek prompt medical attention for proper evaluation and diagnosis.

The intricate interplay between structural abnormalities and altered blood flow patterns in the heart can give rise to various complications. Here are some of the most common ones:

Pulmonary Hypertension

Some congenital heart defects can cause an abnormal increase in blood flow to the lungs. Over time, this increased blood flow can elevate pressure in the lung arteries (pulmonary hypertension). The persistent strain on the heart to pump against higher resistance can weaken the heart muscle, eventually leading to heart failure.

Heart Failure

Congenital heart disease can result in structural abnormalities that compromise the heart's ability to pump blood effectively. The heart may struggle to meet the body's demands, leading to heart failure (congestive heart failure). Factors such as increased workload due to shunting of blood, valve abnormalities, or weakened heart muscle contribute to this condition.

Irregular Heartbeats (Arrhythmias)

Congenital heart disease can disrupt the normal electrical pathways in the heart, leading to faulty signalling. This disruption can cause the heart to beat too fast, too slowly, or irregularly. Scar tissue resulting from previous surgeries for congenital heart defects may further interfere with the heart's electrical conduction system, contributing to arrhythmias.

Heart Infection (Endocarditis)

Individuals with congenital heart disease are at an increased risk of endocarditis due to abnormal blood flow patterns or the presence of artificial materials (such as prosthetic heart valves). Bacteria or germs entering the bloodstream can adhere to the inner lining of the heart (endocardium), causing infection. The altered structure of the heart, particularly damaged valves, provides a conducive environment for infection, potentially leading to valve damage or stroke.

Stroke

Diagnosing congenital heart disease (CHD) involves a combination of clinical assessments, imaging studies, and specialised tests. The diagnostic process aims to identify the type, severity, and impact of the heart defect. Here are key steps in the diagnosis of congenital heart disease:

Prenatal Screening

• Fetal Echocardiography: During routine prenatal care, an Fetal echocardiography (cardiac) may be performed to visualise the developing foetus's heart. This can identify structural abnormalities and provide initial information about the heart's chambers, valves, and blood vessels.

Postnatal Clinical Evaluation

• Physical Examination: A thorough physical examination of the newborn is conducted to check for signs of congenital heart disease, such as abnormal heart sounds, breathing difficulties, or cyanosis (bluish discoloration of the skin).

Diagnostic Imaging

• Echocardiography: This is a key diagnostic tool that uses sound waves to create detailed images of the heart's structure and function. Echocardiography helps identify the specific congenital heart defect and assess its severity.
• Chest X-ray: X-rays may be taken to visualise the heart's size, shape, and position within the chest. This can provide additional information about the impact of the heart defect.

Electrocardiogram (ECG or EKG)

An ECG records the electrical activity of the heart, helping to identify irregularities in heart rhythm and potential signs of stress on the heart.

Cardiac Catheterization

In some cases, a cardiac catheterization procedure may be performed. This involves threading a thin tube (catheter) through blood vessels to the heart, allowing for direct measurements of pressure, oxygen levels, and blood flow. It can also help guide certain interventions or treatments.

Genetic Testing

Some congenital heart diseases have a genetic component. Genetic testing may be recommended to identify specific genetic abnormalities or syndromes associated with heart defects.

Specialised Tests

Depending on the suspected or diagnosed heart defect, additional tests such as magnetic resonance imaging (MRI) or computed tomography (CT) scans may be used to provide more detailed images of the heart and surrounding structures.

The diagnostic process is often collaborative, involving a team of paediatric cardiologists, cardiac surgeons, radiologists, and other specialists. Early and accurate diagnosis is crucial for developing an appropriate treatment plan and ensuring the best possible outcomes for individuals with congenital heart disease.

The treatment and management of congenital heart disease (CHD) depends on the specific type of defect, its severity, and the individual's overall health. Here are some common treatment options:

Observation and Monitoring

In some cases, especially with mild defects that don't cause significant symptoms, a "watchful waiting" approach may be appropriate. Regular check-ups and monitoring by a healthcare provider are important to ensure that the condition is not worsening.

Medications

Certain medications may be prescribed to manage symptoms or improve heart function. For example, diuretics can help reduce fluid buildup, and medications like beta-blockers or ACE inhibitors may be used to manage blood pressure and improve heart function.

Implantable Heart Devices

Devices like pacemakers or implantable cardioverter-defibrillators (ICDs) can help regulate heart rate and address life-threatening irregular heartbeats, managing complications associated with congenital heart disease.

Catheter Procedures

Minimally invasive catheterization procedures can be performed to repair certain congenital heart defects. In these procedures, a thin tube (catheter) is threaded through blood vessels to the heart, and small devices or plugs can be used to close holes or repair other abnormalities. This approach is often used for conditions like atrial septal defects (ASD) or patent ductus arteriosus (PDA).

Surgery

Some congenital heart defects require open-heart surgery for correction. Surgery may involve repairing or replacing heart valves, closing septal defects, widening narrowed blood vessels, or reconstructing areas of the heart. Surgical interventions are often necessary for more complex defects or those that cannot be addressed through catheter-based procedures.

Heart Transplant

In severe cases where the heart is extensively damaged and other treatments are not effective, heart transplantation may be considered. This is a rare and complex procedure, typically reserved for cases of end-stage heart failure.

Lifestyle Modifications

Individuals with congenital heart disease may be advised to make certain lifestyle changes. This can include maintaining a healthy diet, staying physically active within recommended limits, avoiding tobacco and excessive alcohol consumption, and managing other health conditions that may impact heart health.

Long-term Follow-up

Regular follow-up with a cardiologist or healthcare team is crucial for individuals with congenital heart disease. Monitoring helps detect any potential complications or changes in the condition early on, allowing for timely intervention.

The choice of treatment is determined by the specific characteristics of the congenital heart disease, with the goal of improving heart function and overall well-being in adulthood. Regular consultation with healthcare providers is essential to assess and address the individual needs of those living with congenital heart disease.

Q. What considerations should individuals with congenital heart disease keep in mind when planning to become pregnant?

Individuals with congenital heart disease should consider their specific heart condition, potential risks during pregnancy, and seek guidance from healthcare providers to create a personalised plan. Factors such as the type and severity of the heart defect, medications, and overall health will play a crucial role in decision-making.

Q. Are there specific risks or complications associated with pregnancy for individuals with congenital heart disease, and how can they be addressed?

Pregnancy with congenital heart disease may pose risks for both the mother and baby. Regular monitoring, customised care plans, and potential medication adjustments are essential to

address complications. Healthcare providers play a key role in managing these risks and ensuring the well-being of both the mother and the developing foetus.

Q. How does the severity of congenital heart disease impact the decision to pursue pregnancy, and what guidance should individuals seek from healthcare providers?

The decision to pursue pregnancy is influenced by the severity of congenital heart disease. Individuals should seek guidance from healthcare providers to assess potential implications on maternal and foetal health. The healthcare team can provide informed advice, taking into account the specific heart condition, its severity, and the overall health of the individual, guiding them in making a well-informed decision.

Q. How common are congenital heart defects?

Congenital heart defects are relatively common and are the most frequent type of birth defect, occurring in about 1 in every 100 live births. The prevalence can vary based on factors such as the type and severity of the defect.

Q. Does adult congenital heart disease (ACHD) require special treatment?

Yes, adult congenital heart disease (ACHD) often requires specialised care. Patients with ACHD should be monitored by healthcare professionals familiar with congenital heart conditions to manage potential complications and provide ongoing care tailored to their unique needs.

Q. What is the difference between congenital and acquired heart disease?

Congenital heart disease is present at birth and results from abnormalities in heart development. Acquired heart disease develops later in life due to factors such as ageing, lifestyle, or underlying health conditions. Both types can affect the heart's structure and function.

Q. What is the lifelong impact of congenital heart defects?

The lifelong impact of congenital heart defects varies widely. With advancements in medical care, many individuals lead normal, healthy lives. However, some may experience ongoing health challenges, requiring ongoing monitoring and potential interventions.

Q. What should one avoid if they have congenital heart disease?

Individuals with congenital heart disease should generally avoid smoking, excessive alcohol consumption, and illicit drug use. They should also be cautious with certain medications and discuss their heart condition with healthcare providers before starting new medications.

Q. How long can one live with congenital heart defects?

Life expectancy for individuals with congenital heart defects has significantly improved with medical advancements. Many can lead full, productive lives. The lifespan depends on the specific type and severity of the defect, the availability of medical care, and how well the condition is managed over time. Regular follow-up with healthcare providers is crucial for monitoring and maintaining heart health.

Reviewed by Dr. Munesh Tomar, Director - Paediatric Cardiology, Cardiac Sciences, Cardiology on 22 Jan 2024.

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