Summary about Disease
Eisenmenger syndrome is a condition that affects the heart and lungs. It's a type of congenital heart defect (present at birth) that causes abnormal blood flow in the heart. Over time, this abnormal blood flow leads to pulmonary hypertension (high blood pressure in the lungs). The increased pressure in the lungs then causes blood to flow in the reverse direction through the heart defect, resulting in deoxygenated (blue) blood circulating throughout the body. This leads to cyanosis (a bluish tint to the skin) and other complications.
Symptoms
Common symptoms of Eisenmenger syndrome include:
Shortness of breath, especially with exertion
Cyanosis (bluish skin, lips, and nail beds)
Fatigue
Chest pain
Dizziness or fainting
Rapid heartbeat or palpitations
Swelling in the ankles, feet, or legs (edema)
Coughing up blood (hemoptysis)
Headaches
Clubbing of fingers and toes (widening and rounding of the fingertips)
Causes
Eisenmenger syndrome develops as a result of congenital heart defects that cause abnormal blood flow patterns. These defects include:
Ventricular septal defect (VSD): A hole in the wall separating the two lower chambers of the heart.
Atrial septal defect (ASD): A hole in the wall separating the two upper chambers of the heart.
Patent ductus arteriosus (PDA): A blood vessel connecting the aorta and pulmonary artery that doesn't close after birth.
Complete atrioventricular canal defect (AV canal defect): A large hole in the center of the heart where the upper and lower chambers meet. These defects, if not corrected early in life, can lead to increased blood flow to the lungs, causing pulmonary hypertension and eventually Eisenmenger syndrome.
Medicine Used
Medications used to manage Eisenmenger syndrome include:
Endothelin receptor antagonists (ERAs): Such as bosentan, ambrisentan, and macitentan. These help to relax blood vessels in the lungs and lower pulmonary blood pressure.
Phosphodiesterase-5 (PDE5) inhibitors: Such as sildenafil and tadalafil. These also help relax the blood vessels in the lungs.
Prostacyclin analogs: Such as epoprostenol, treprostinil, and iloprost. These are powerful vasodilators that can be administered intravenously, subcutaneously, or inhaled.
Diuretics: To reduce fluid buildup (edema).
Oxygen therapy: To improve blood oxygen levels.
Iron supplements: To treat iron deficiency anemia, which is common in people with Eisenmenger syndrome.
Anticoagulants: Such as warfarin, to prevent blood clots.
Is Communicable
Eisenmenger syndrome is not a communicable disease. It is a congenital condition caused by structural heart defects and does not spread from person to person.
Precautions
People with Eisenmenger syndrome need to take several precautions:
Avoid strenuous activities: To prevent excessive strain on the heart and lungs.
Avoid high altitudes: Where oxygen levels are lower.
Prevent dehydration: By drinking plenty of fluids.
Prevent infections: Get vaccinated against influenza and pneumonia.
Avoid pregnancy: Pregnancy carries a very high risk of complications and mortality for women with Eisenmenger syndrome.
Inform healthcare providers: About their condition before any medical procedure or surgery.
Maintain good oral hygiene: To prevent endocarditis (infection of the heart lining).
Avoid smoking and secondhand smoke: As it can worsen lung function.
How long does an outbreak last?
Eisenmenger syndrome is not an infectious disease and does not involve outbreaks. It is a chronic condition that persists throughout a person's life. Symptoms may fluctuate in severity over time, but there are no outbreaks.
How is it diagnosed?
Eisenmenger syndrome is diagnosed through a combination of:
Physical examination: Assessing symptoms like cyanosis, clubbing, and heart murmurs.
Echocardiogram: An ultrasound of the heart to visualize the heart's structure and blood flow.
Electrocardiogram (ECG): To measure the heart's electrical activity.
Chest X-ray: To assess the size and shape of the heart and lungs.
Cardiac catheterization: A procedure to measure pressures in the heart and lungs and assess blood flow.
Blood tests: To measure oxygen levels, red blood cell count, and other indicators.
Pulmonary function tests: To assess lung function.
Timeline of Symptoms
The timeline of symptoms can vary, but generally:
Infancy/Childhood: The underlying heart defect is present at birth. Symptoms may initially be mild or absent. As the child grows, increased blood flow to the lungs can lead to pulmonary hypertension.
Adolescence/Early Adulthood: Pulmonary hypertension progresses. Symptoms like shortness of breath, fatigue, and cyanosis become more noticeable.
Later Adulthood: Symptoms typically worsen over time. Complications such as heart failure, arrhythmias, and blood clots may develop. The rate of progression can vary significantly among individuals.
Important Considerations
Eisenmenger syndrome is a serious condition with a reduced life expectancy.
Early diagnosis and management of the underlying heart defect are crucial to prevent the development of Eisenmenger syndrome.
Individuals with Eisenmenger syndrome require specialized care from a cardiologist and pulmonologist with expertise in pulmonary hypertension and congenital heart disease.
Lung or heart-lung transplantation may be an option for some patients with severe Eisenmenger syndrome.
Genetic counseling may be recommended for families with a history of congenital heart defects.