Eisenmenger’s Syndrome: Symptoms, Causes, and Treatment Options

Introduction

Eisenmenger’s syndrome is a rare but serious condition that affects both the heart and lungs. It develops as a complication of certain congenital heart defects—structural abnormalities in the heart that are present from birth. First identified by Dr. Victor Eisenmenger in 1897, this syndrome occurs when an untreated heart defect leads to severe pulmonary hypertension, or high blood pressure in the lungs. Over time, this results in abnormal blood flow between the heart and lungs, leading to oxygen deprivation and other significant health challenges.

This article provides a clear and compassionate overview of Eisenmenger’s syndrome. We will discuss its risk factors, symptoms, diagnostic methods, treatment options, and strategies for managing symptoms at home. Whether you or a loved one has been diagnosed with this condition, understanding it can empower you to make informed decisions about your health and care.

What is Eisenmenger’s Syndrome?

Eisenmenger’s syndrome develops as a result of untreated congenital heart defects, leading to pulmonary hypertension and symptoms such as fatigue, shortness of breath, and cyanosis (a bluish discoloration of the skin). This article will explore the risk factors, symptoms, diagnostic tools, medications, procedures, and home care strategies that can help manage this condition effectively.

Description of Eisenmenger’s Syndrome

Eisenmenger’s syndrome arises when a congenital heart defect—such as a ventricular septal defect (a hole in the wall separating the lower chambers of the heart)—is left untreated. Under normal circumstances, the heart pumps oxygen-rich blood from the lungs to the rest of the body. However, in Eisenmenger’s syndrome, the defect causes abnormal blood flow between the heart and lungs, increasing pressure in the pulmonary arteries. This elevated pressure, known as pulmonary hypertension, eventually reverses the direction of blood flow. As a result, oxygen-poor blood bypasses the lungs and circulates throughout the body, leading to symptoms such as cyanosis and fatigue.

The progression of Eisenmenger’s syndrome is gradual but relentless. Without treatment, it can lead to complications such as heart failure, arrhythmias (irregular heartbeats), and stroke. While the condition is rare, it is more commonly seen in individuals with congenital heart defects that were not repaired during childhood. Advances in pediatric cardiology have significantly reduced its prevalence in developed countries, but it remains a pressing concern in regions with limited access to healthcare.

Statistics show that Eisenmenger’s syndrome affects approximately 1 in 100,000 people in the general population. Among individuals with congenital heart defects, the prevalence is higher, particularly in those with large, uncorrected defects. Early diagnosis and management of congenital heart conditions are essential to preventing the development of Eisenmenger’s syndrome.

Risk Factors for Developing Eisenmenger’s Syndrome

Lifestyle Risk Factors

Although lifestyle factors alone do not directly cause Eisenmenger’s syndrome, certain habits can worsen its progression or increase the risk of complications. Smoking, for example, damages blood vessels and exacerbates pulmonary hypertension. Similarly, exposure to secondhand smoke or air pollution can impair lung function and place additional strain on the heart. A sedentary lifestyle may also contribute to poor cardiovascular health, making it harder for the body to cope with the demands of this condition.

Individuals with congenital heart defects should avoid high-altitude environments, as reduced oxygen levels can place extra stress on the heart and lungs. Strenuous physical activities, particularly those involving heavy lifting or intense exertion, should be approached with caution, as they can elevate blood pressure in the lungs.

Medical Risk Factors

The primary medical risk factor for Eisenmenger’s syndrome is having an untreated congenital heart defect. Common defects associated with this condition include ventricular septal defects (VSD), atrial septal defects (ASD), and patent ductus arteriosus (PDA). These defects create abnormal connections between the heart’s chambers or blood vessels, leading to increased blood flow to the lungs and, eventually, pulmonary hypertension.

Other medical conditions, such as chronic lung diseases and certain infections that damage the heart or blood vessels, may also contribute to the development of Eisenmenger’s syndrome. Additionally, delayed or inadequate treatment of congenital heart defects during childhood significantly raises the risk of developing this syndrome later in life.

Genetic and Age-Related Risk Factors

Genetics play a role in the development of congenital heart defects, which are the underlying cause of Eisenmenger’s syndrome. Individuals with a family history of heart defects or genetic syndromes such as Down syndrome are at a higher risk. These genetic predispositions can lead to structural abnormalities in the heart that, if left untreated, may result in Eisenmenger’s syndrome.

Age is another important factor. While Eisenmenger’s syndrome can develop at any age, it most commonly arises in adolescence or adulthood among individuals with uncorrected congenital heart defects. Advances in pediatric cardiology have reduced its incidence in younger generations, but older adults who lacked access to modern medical care may still be at risk.

Understanding these risk factors can help patients and their families take proactive steps to manage their health and seek timely medical care.

Clinical Manifestations of Eisenmenger’s Syndrome

Dyspnea (Shortness of Breath)

Shortness of breath, or dyspnea, is one of the most common symptoms of Eisenmenger’s syndrome, affecting approximately 90% of patients. This symptom worsens as the condition progresses. Dyspnea occurs because pulmonary hypertension makes it more difficult for oxygen to move from the lungs into the bloodstream. As a result, the body struggles to get enough oxygen, particularly during physical activity. Over time, even simple tasks like walking or climbing stairs can cause significant breathlessness.

Cyanosis

Cyanosis, a bluish discoloration of the skin, lips, or nails, is a hallmark symptom of Eisenmenger’s syndrome and is present in nearly all patients. It occurs due to low oxygen levels in the blood, caused by the mixing of oxygen-rich and oxygen-poor blood as a result of the heart defect. Cyanosis is often more noticeable during physical exertion or in colder temperatures and serves as a key indicator of the severity of the underlying heart and lung issues.

Fatigue

Fatigue is reported in about 80% of patients with Eisenmenger’s syndrome. It occurs because the body’s tissues do not receive sufficient oxygen to function efficiently. The heart and lungs must work harder than normal, leaving patients feeling persistently tired or drained. Fatigue often worsens with physical activity and can significantly affect quality of life.

Palpitations

Palpitations, or the sensation of a racing or irregular heartbeat, affect approximately 50% of patients. These are caused by arrhythmias, or abnormal heart rhythms, which result from the strain on the heart due to pulmonary hypertension. Palpitations can be unsettling and may sometimes lead to dizziness or fainting, particularly during episodes of rapid heart rates.

Chest Pain

Chest pain is experienced by around 30% of patients with Eisenmenger’s syndrome. It is often caused by the increased workload on the heart or reduced blood flow to the heart muscle. The pain may feel like pressure or tightness and can occur during physical activity or at rest. While not always severe, chest pain should be taken seriously, as it may signal worsening of the condition.

Clubbing of Fingers

Clubbing of the fingers, characterized by a bulbous enlargement of the fingertips and a curved appearance of the nails, is observed in about 70% of patients. This occurs due to chronic low oxygen levels in the blood, which stimulate changes in the soft tissue and bone beneath the nails. Clubbing develops gradually and is often a visible sign of long-term oxygen deprivation.

Hemoptysis (Coughing Up Blood)

Hemoptysis, or coughing up blood, is reported in approximately 20% of patients. It occurs when high pressure in the lung’s blood vessels causes small blood vessels to rupture, leading to blood in the sputum. While hemoptysis can range from mild to severe, it is a potentially life-threatening symptom that requires immediate medical attention.

Syncope (Fainting)

Syncope, or fainting, occurs in about 15% of patients with Eisenmenger’s syndrome. It is often triggered by a sudden drop in blood pressure or an abnormal heart rhythm. Syncope can happen during physical activity or even at rest and may indicate that the heart is struggling to pump blood effectively. This symptom is a warning sign of advanced disease progression.

Edema (Swelling)

Edema, or swelling in the legs, ankles, or abdomen, is seen in around 30% of patients. It occurs because the heart’s ability to pump blood effectively is compromised, leading to fluid buildup in the body. Edema may worsen over time and can be uncomfortable, affecting mobility and daily activities.

Heart Murmur

A heart murmur, an abnormal sound heard during a heartbeat, is present in nearly all patients with Eisenmenger’s syndrome. It is caused by turbulent blood flow through the heart due to the underlying congenital heart defect. While a murmur itself may not cause symptoms, it is an important clue for diagnosing the condition and assessing its severity.

Health Conditions with Similar Symptoms to Eisenmenger’s Syndrome

Congenital Heart Defects

Congenital heart defects are structural abnormalities in the heart that are present from birth. These defects can disrupt normal blood flow through the heart and body, leading to symptoms such as fatigue, shortness of breath, and cyanosis (a bluish tint to the skin). Common types include atrial septal defects, ventricular septal defects, and patent ductus arteriosus. While some defects are mild and may not require treatment, others can necessitate surgical correction.

How to Differentiate Congenital Heart Defects from Eisenmenger’s Syndrome

Both congenital heart defects and Eisenmenger’s syndrome can cause symptoms like shortness of breath, fatigue, and cyanosis. However, Eisenmenger’s syndrome develops as a complication of untreated congenital heart defects, leading to irreversible lung damage and pulmonary hypertension. In contrast, congenital heart defects that have not progressed to Eisenmenger’s syndrome may not involve significant lung issues.

Diagnostic tools such as echocardiograms and cardiac MRIs are essential for distinguishing between the two. Eisenmenger’s syndrome is characterized by pulmonary hypertension and reversed blood flow (right-to-left shunting), while congenital heart defects without Eisenmenger’s syndrome may show normal or only mildly altered blood flow. A cardiologist will also assess pulmonary vascular changes, which are a hallmark of Eisenmenger’s syndrome.

Pulmonary Hypertension

Pulmonary hypertension refers to abnormally high blood pressure in the arteries of the lungs, which makes it harder for the heart to pump blood effectively. Symptoms include shortness of breath, fatigue, chest pain, and swelling in the legs or abdomen. This condition can occur on its own or as a result of other underlying health issues.

How to Differentiate Pulmonary Hypertension from Eisenmenger’s Syndrome

Both conditions involve elevated pulmonary artery pressure and share symptoms such as shortness of breath and fatigue. However, Eisenmenger’s syndrome is specifically associated with congenital heart defects, whereas pulmonary hypertension can arise from a variety of causes, including lung diseases or blood clots.

Right heart catheterization is a critical diagnostic test. In Eisenmenger’s syndrome, it reveals pulmonary hypertension accompanied by reversed blood flow due to a congenital heart defect. In isolated pulmonary hypertension, there is no shunting, and the heart’s structure may appear normal. Additional tests, such as lung function tests or blood work, can help identify other potential causes of pulmonary hypertension.

Chronic Obstructive Pulmonary Disease (COPD)

COPD is a chronic lung condition that encompasses emphysema and chronic bronchitis. It causes airflow obstruction and breathing difficulties. Symptoms include persistent coughing, wheezing, shortness of breath, and frequent respiratory infections. Smoking is the leading cause, though long-term exposure to irritants like air pollution can also contribute.

How to Differentiate COPD from Eisenmenger’s Syndrome

Shortness of breath and fatigue are common to both COPD and Eisenmenger’s syndrome. However, COPD is primarily a lung condition and does not involve congenital heart defects or cyanosis, except in very advanced stages. Additionally, COPD often features a chronic cough with mucus production, which is not typical of Eisenmenger’s syndrome.

Spirometry, a test that measures airflow and lung capacity, is commonly used to diagnose COPD. In Eisenmenger’s syndrome, spirometry results are usually normal, as the issue lies in the heart and pulmonary arteries rather than the airways. Imaging studies like chest X-rays or CT scans can further differentiate the two by revealing lung damage in COPD.

Asthma

Asthma is a chronic condition characterized by inflammation and narrowing of the airways, leading to breathing difficulties. Symptoms include wheezing, coughing, chest tightness, and shortness of breath, which can vary in severity and frequency. Asthma attacks are often triggered by allergens, exercise, or respiratory infections.

How to Differentiate Asthma from Eisenmenger’s Syndrome

Both asthma and Eisenmenger’s syndrome can cause shortness of breath and fatigue. However, asthma is marked by episodes of wheezing and coughing, often triggered by specific factors such as allergens or physical activity. These symptoms are not typical of Eisenmenger’s syndrome.

Asthma is usually diagnosed using spirometry or bronchoprovocation tests, which evaluate lung function and airway responsiveness. In Eisenmenger’s syndrome, these tests are typically normal, as the underlying issue is related to blood flow and pulmonary pressure rather than airway inflammation. Additionally, blood oxygen levels in Eisenmenger’s syndrome are persistently low, whereas in asthma, oxygen levels generally return to normal between attacks.

Pneumonia

Pneumonia is an infection that inflames the air sacs in one or both lungs, often filling them with fluid or pus. Symptoms include fever, chills, a cough producing phlegm, chest pain, and difficulty breathing. It can be caused by bacteria, viruses, or fungi and ranges in severity from mild to life-threatening.

How to Differentiate Pneumonia from Eisenmenger’s Syndrome

Both conditions can cause shortness of breath and fatigue, but pneumonia typically presents with fever, chills, and a productive cough, which are not features of Eisenmenger’s syndrome. Cyanosis may occur in severe cases of pneumonia but is more consistently seen in Eisenmenger’s syndrome.

A chest X-ray is the primary diagnostic tool for pneumonia, revealing areas of lung inflammation or fluid accumulation. In Eisenmenger’s syndrome, chest X-rays may show enlarged pulmonary arteries or heart abnormalities but not infection-related changes. Blood tests may also indicate elevated white blood cell counts in pneumonia, signaling an active infection.

Heart Failure

Heart failure occurs when the heart is unable to pump blood effectively, leading to symptoms such as shortness of breath, fatigue, swelling in the legs, and rapid weight gain. It can result from conditions like coronary artery disease, high blood pressure, or valve disorders.

How to Differentiate Heart Failure from Eisenmenger’s Syndrome

Both conditions can cause shortness of breath, fatigue, and swelling. However, cyanosis is a defining feature of Eisenmenger’s syndrome and is not typically seen in heart failure. Heart failure may also cause symptoms such as a persistent cough or wheezing due to fluid buildup in the lungs, which is not characteristic of Eisenmenger’s syndrome.

Echocardiograms and blood tests for biomarkers like B-type natriuretic peptide (BNP) are useful for distinguishing the two. Elevated BNP levels are common in heart failure but are not specific to Eisenmenger’s syndrome. Imaging studies in Eisenmenger’s syndrome will reveal congenital heart defects and pulmonary hypertension, while in heart failure, they may show an enlarged heart or reduced pumping efficiency.

Valvular Heart Disease

Valvular heart disease occurs when one or more of the heart’s valves fail to function properly, disrupting normal blood flow. Common issues include valve narrowing (stenosis) or leakage (regurgitation). Symptoms may include fatigue, shortness of breath, chest pain, and irregular heartbeats.

How to Differentiate Valvular Heart Disease from Eisenmenger’s Syndrome

Both conditions can cause shortness of breath and fatigue. However, valvular heart disease may also present with a heart murmur or palpitations, which are less common in Eisenmenger’s syndrome. Cyanosis, a hallmark of Eisenmenger’s syndrome, is not typically seen in valvular heart disease.

Echocardiograms are crucial for diagnosing valvular heart disease, as they allow direct visualization of valve abnormalities. In Eisenmenger’s syndrome, echocardiograms will show pulmonary hypertension and congenital heart defects rather than isolated valve issues. Additional tests, such as cardiac catheterization, may provide further clarity.

Pulmonary Embolism

A pulmonary embolism is a sudden blockage in a lung artery, usually caused by a blood clot that has traveled from another part of the body. Symptoms include sudden shortness of breath, chest pain, rapid heart rate, and coughing up blood. It is a medical emergency that requires immediate treatment.

How to Differentiate Pulmonary Embolism from Eisenmenger’s Syndrome

Both conditions can cause shortness of breath and chest pain. However, pulmonary embolism often presents suddenly and may include coughing up blood, which is not a feature of Eisenmenger’s syndrome. Cyanosis in pulmonary embolism is typically acute and severe, whereas it is chronic in Eisenmenger’s syndrome.

CT pulmonary angiography is the gold standard for diagnosing pulmonary embolism, as it can directly detect blood clots in the lungs. In Eisenmenger’s syndrome, imaging will show pulmonary hypertension and congenital heart defects but not clots. Blood tests like D-dimer can also help identify a pulmonary embolism.

Anemia

Anemia occurs when the blood lacks enough healthy red blood cells to carry oxygen to the body’s tissues. Common causes include iron deficiency, vitamin deficiencies, chronic diseases, or blood loss. Symptoms include fatigue, weakness, pale skin, and shortness of breath.

How to Differentiate Anemia from Eisenmenger’s Syndrome

Both conditions can cause fatigue and shortness of breath. However, anemia often presents with pale skin and cold hands or feet, which are not typical of Eisenmenger’s syndrome. Cyanosis, a hallmark of Eisenmenger’s syndrome, is not seen in anemia.

Blood tests, including a complete blood count (CBC), can diagnose anemia by revealing low hemoglobin and red blood cell levels. In Eisenmenger’s syndrome, blood tests may show elevated red blood cell counts as the body attempts to compensate for low oxygen levels. These differences are key to distinguishing the two conditions.

Systemic Sclerosis

Systemic sclerosis, also known as scleroderma, is a rare autoimmune disease that causes hardening and tightening of the skin and connective tissues. It can also affect internal organs, including the lungs and heart. Symptoms vary but may include skin thickening, Raynaud’s phenomenon (color changes in fingers and toes), and shortness of breath.

How to Differentiate Systemic Sclerosis from Eisenmenger’s Syndrome

Both conditions can cause shortness of breath and fatigue. However, systemic sclerosis often includes skin changes and Raynaud’s phenomenon, which are not features of Eisenmenger’s syndrome. Cyanosis in systemic sclerosis is usually limited to the fingers and toes, whereas in Eisenmenger’s syndrome, it affects the entire body.

Blood tests for specific antibodies, such as anti-centromere or anti-Scl-70, can help diagnose systemic sclerosis. Imaging studies like high-resolution CT scans may reveal lung fibrosis in systemic sclerosis, while in Eisenmenger’s syndrome, they show pulmonary hypertension and congenital heart defects. These findings are critical for differentiating between the two conditions.

Treatment Options for Eisenmenger’s Syndrome

Medications for Managing Eisenmenger Syndrome

Sildenafil

Sildenafil, a phosphodiesterase-5 (PDE5) inhibitor, is commonly used to relax blood vessels and enhance blood flow. It is frequently prescribed to manage pulmonary arterial hypertension (PAH), a key component of Eisenmenger’s syndrome.

By dilating the pulmonary arteries, sildenafil lowers pressure in these vessels and improves oxygen delivery throughout the body. It is often part of a comprehensive treatment plan for patients with significant pulmonary hypertension.

Many individuals experience improved breathing and reduced pulmonary artery pressure within weeks or months of starting treatment, although results can vary depending on individual circumstances.

Bosentan

Bosentan, an endothelin receptor antagonist (ERA), works by relaxing and widening blood vessels, effectively reducing pulmonary artery pressure. It is particularly effective for managing severe pulmonary hypertension associated with Eisenmenger’s syndrome.

Often considered a first-line treatment for advanced symptoms, bosentan can enhance physical activity tolerance and alleviate shortness of breath after several months of consistent use.

Ambrisentan

Ambrisentan, another ERA, blocks endothelin, a substance that causes blood vessels to constrict. While similar to bosentan, it may have fewer side effects for some patients.

Typically prescribed for moderate to severe pulmonary hypertension, ambrisentan can be used alone or in combination with medications like sildenafil. Many patients notice improved exercise capacity and symptom relief within a few weeks of starting treatment.

Epoprostenol

Epoprostenol, a prostacyclin analog, mimics natural substances in the body to dilate blood vessels and prevent blood clots. Administered through continuous intravenous infusion, it is reserved for severe cases of pulmonary hypertension that do not respond to other treatments.

While epoprostenol can significantly improve symptoms and quality of life, it requires continuous administration and close monitoring by specialized healthcare providers.

Treprostinil

Treprostinil, another prostacyclin analog, offers greater flexibility than epoprostenol, with options for subcutaneous, intravenous, or inhaled administration. It is used for advanced pulmonary hypertension when additional symptom control is needed.

Depending on the method of administration, patients may experience improved exercise tolerance and reduced symptoms within weeks.

Iloprost

Iloprost, an inhaled prostacyclin analog, helps dilate pulmonary arteries and lower pressure. It is often used as part of combination therapy for pulmonary hypertension.

This medication is ideal for patients who prefer inhaled treatments or cannot tolerate intravenous or subcutaneous options. Symptom relief, such as reduced shortness of breath, is often noticeable shortly after inhalation.

Digoxin

Digoxin strengthens the heart’s contractions and helps regulate its rhythm, making it useful for managing heart failure and arrhythmias associated with Eisenmenger’s syndrome.

It is typically prescribed when heart function is impaired or arrhythmias are present, often in combination with other medications. Patients may experience improved heart function and symptom relief within a few weeks.

Diuretics

Diuretics, commonly known as “water pills,” help remove excess fluid from the body, reducing the strain on the heart and lungs. They are often used to manage symptoms such as swelling and shortness of breath.

Prescribed when fluid retention becomes problematic, diuretics are tailored to individual needs as part of a broader treatment plan. Symptom relief, such as reduced swelling, is often noticeable within days.

Anticoagulants

Anticoagulants, or blood thinners, help reduce the risk of blood clots and are sometimes used in Eisenmenger’s syndrome to prevent complications like stroke or pulmonary embolism.

These medications are prescribed with caution due to the delicate balance between clotting and bleeding risks in Eisenmenger’s syndrome. When used appropriately, anticoagulants can significantly lower the risk of clot-related complications, but regular monitoring is essential.

Procedures for Advanced Eisenmenger Syndrome

Heart-Lung Transplant

A heart-lung transplant involves replacing both the heart and lungs with donor organs, offering a definitive treatment for Eisenmenger’s syndrome when other therapies are no longer effective.

This procedure is reserved for patients with end-stage disease who are otherwise healthy enough to undergo major surgery. It requires a thorough evaluation and a suitable donor match.

While a heart-lung transplant can dramatically improve quality of life and life expectancy, it carries significant risks and requires lifelong immunosuppressive therapy to prevent organ rejection.

Lung Transplant with Heart Repair

In some cases, a lung transplant combined with surgical repair of the heart defect is an option. This approach addresses the underlying cause of Eisenmenger’s syndrome while preserving the patient’s own heart.

Ideal for patients with severe pulmonary hypertension and a repairable heart defect, this procedure also requires careful evaluation and a suitable donor match. Patients often experience substantial symptom relief and improved outcomes, though recovery can be challenging and requires close follow-up care.

Improving Eisenmenger’s Syndrome and Seeking Medical Help

In addition to medical treatments, certain lifestyle changes and home strategies can complement your care plan:

1. Maintain a Heart-Healthy Diet: Focus on nutrient-dense, low-sodium foods to support cardiovascular health.
2. Stay Hydrated: Drink adequate fluids, but consult your doctor about any necessary fluid restrictions.
3. Avoid High-Altitude Areas: High altitudes can worsen symptoms by reducing oxygen levels.
4. Engage in Gentle Exercise: Low-impact activities like walking can improve circulation and overall well-being. Avoid strenuous exercise to prevent excessive strain on the heart and lungs.
5. Avoid Smoking and Alcohol: Both can exacerbate symptoms and interfere with treatment.

Telemedicine offers a convenient way to monitor your condition and adjust your treatment plan without frequent in-person visits. If symptoms worsen, such as increased shortness of breath or swelling, seek medical attention promptly. Our telemedicine practice provides timely guidance and care from the comfort of your home.

Living with Eisenmenger’s Syndrome: Tips for Better Quality of Life

Managing Eisenmenger’s syndrome requires a proactive approach to minimize symptoms and reduce the risk of complications. Consider these tips for enhancing your quality of life:

1. Follow Your Treatment Plan: Take prescribed medications as directed and attend regular follow-up appointments to monitor your condition.
2. Educate Yourself: Learn about your condition to make informed decisions and actively participate in your care.
3. Build a Support Network: Connect with family, friends, and support groups to share experiences and alleviate stress.
4. Prioritize Mental Health: Seek counseling or therapy to address the emotional challenges of living with a chronic condition.
5. Utilize Telemedicine: Regular virtual check-ins with your healthcare provider can help ensure your treatment plan remains effective and up-to-date.

Conclusion

Eisenmenger’s syndrome is a complex condition that requires a personalized, multidisciplinary approach. Early diagnosis and timely treatment are critical for managing symptoms, preventing complications, and improving overall quality of life. By combining medical therapies, lifestyle adjustments, and telemedicine, patients can take an active role in their health and well-being.

If you or a loved one has been diagnosed with Eisenmenger’s syndrome, our primary care telemedicine practice is here to support you. Schedule a virtual consultation today for expert guidance and personalized care from the comfort of your home.

James Kingsley

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