Materiały źródłowe

• #1 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  Ebstein anomaly is a rare congenital heart disease characterized by apical displacement of the tricuspid valve, adherence of the septal and posterior leaflets to the myocardium, and atrialization of the inlet portion of the right ventricle. This malformation is usually accompanied by tricuspid regurgitation, right ventricular failure, and arrhythmias. While most patients with Ebstein anomaly will be symptomatic at birth or in early childhood, some patients will not be diagnosed until their sixth or seventh decade. The clinical manifestations of Ebstein anomaly range from asymptomatic to severe as dictated by the degree of tricuspid valve displacement, severity of tricuspid regurgitation, effective right ventricular volume, and the presence of associated malformations such as an atrial septal defect or pulmonary valve stenosis or atresia.

• #2 Ebstein Anomaly | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/e/ebstein

  Ebstein anomaly can be very mild to very severe. Many patients with milder forms of Ebstein anomaly do not have symptoms. […] Some babies and children have blue color to their skin (cyanosis). This happens because the flow of blood from the right atrium to the left atrium. Children may complain that their heart races, skips a beat, or just beats funny. They may tire more easily than other children or become short of breath. In teens and young adults, the sensation of heart skipping (palpitations) or fast heart rate, shortness of breath, and chest pain may be the first symptoms. Growth and development are normal in patients with Ebstein anomaly. […] Severely affected babies are often critically ill at birth. They may have low oxygen saturations (cyanosis) and heart failure needing immediate intensive care.

• #3 Ebstein’s Anomaly: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults

  Ebsteins anomaly is a rare birth defect. It affects the tricuspid valve in your heart and can cause an enlarged heart, irregular heartbeat and heart failure. The severity of the defect varies widely. If youre diagnosed as an adult, the condition is usually mild, although some people may need surgery. […] The condition and its symptoms range from mild to severe, depending on the extent of the malformations. […] When the condition is severe, symptoms appear shortly after birth or in the first months of life. The infants skin may have a bluish tint (cyanosis) from a lack of oxygen in the blood. They may also have early signs of heart failure, including: Rapid breathing. Shortness of breath. Slow weight gain. Swelling (edema) of the legs, abdomen or area around the eyes. […] If your condition is mild, you may not have symptoms or your symptoms may not appear until adulthood. In adults, symptoms include a bluish tint to the skin and an irregular heartbeat (arrhythmia). If you develop heart failure, your symptoms may include: Chest pain. Dizziness or fainting. Fatigue. Shortness of breath, especially during exercise. Swelling of the legs or abdomen.

• #4 Ebstein anomaly: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/007321.htm

  Ebstein anomaly is a rare heart defect in which parts of the tricuspid valve are abnormal. The condition is congenital, which means it is present at birth. […] The abnormality can be slight or very severe. Therefore, the symptoms can also range from mild to very severe. Symptoms can develop soon after birth, and can include bluish-colored lips and nails due to low blood oxygen levels. In severe cases, the baby appears very sick and has trouble breathing. In mild cases, the affected person may be asymptomatic for many years, sometimes even permanently. […] Symptoms in older children may include: Cough, Failure to grow, Fatigue, Rapid breathing, Shortness of breath, Very fast heartbeat. […] In general, the earlier symptoms develop, the more severe the disease. Some people may have either no symptoms or very mild symptoms. Others may worsen over time, developing blue coloring (cyanosis), heart failure, heart block, or dangerous heart rhythms.

• #5 Ebstein’s Anomaly | Texas Children’s

  https://www.texaschildrens.org/content/conditions/ebsteins-anomaly

  Ebstein’s anomaly may show signs of the condition within the first few days or weeks after birth. […] In mild cases, children with Ebstein’s anomaly may not have symptoms until adulthood. […] While the signs and symptoms may vary for each baby, they can include: Heart murmur, Bluish skin, lips or nails (cyanosis), Difficulty breathing, Abnormal heart rhythm (arrhythmia), Cough, Poor weight gain, Generalized fatigue, Sweating, Swelling in the legs and belly. […] The extra blood in the right atrium can cause it to enlarge. The abnormally small right ventricle may weaken as it works harder to try and pump enough blood to the lungs. A lack of oxygen in the blood may cause a blue tint to the baby’s skin, lips and nails (known as cyanosis). If left untreated, in some cases fluid may build up in the baby’s body (fetal non-immune hydrops) and heart failure can occur.

• #6 Neurological, Extracardiac, and Cardiac Manifestations of Ebstein’s Anomaly Along With its Genetics, Diagnostic Techniques, Treatment Updates, and the Future Ahead

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10024951/

  Ebsteins anomaly is a congenital heart defect characterized by the displacement of the tricuspid valve, and its leaflets to be malformed. Due to the defect involving the tricuspid valve, there is a reverse flow of blood into the right-sided atrium, which may lead to cardiac hypertrophy and edema of the lower extremities. There is a decreased flow of blood out of the right heart due to reduced right ventricular contractility and tricuspid regurgitation. Children afflicted with this anomaly usually suffer from atrial septal defect and this is usually diagnosed before birth on a routine ultrasound scan. In neonates, cyanosis can be seen due to right-to-left atrial shunting or as a result of severe congestive heart failure. If the infant has pulmonary hypertension, cyanosis is markedly increased as there will be a limitation in pulmonary blood flow. In adults, arrhythmias, cyanosis, and heart failure are seen.

• #7 Ebstein’s Anomaly | Texas Children’s

  https://www.texaschildrens.org/content/conditions/ebsteins-anomaly

  Ebstein’s anomaly may show signs of the condition within the first few days or weeks after birth. […] In mild cases, children with Ebstein’s anomaly may not have symptoms until adulthood. […] While the signs and symptoms may vary for each baby, they can include: Heart murmur, Bluish skin, lips or nails (cyanosis), Difficulty breathing, Abnormal heart rhythm (arrhythmia), Cough, Poor weight gain, Generalized fatigue, Sweating, Swelling in the legs and belly. […] The extra blood in the right atrium can cause it to enlarge. The abnormally small right ventricle may weaken as it works harder to try and pump enough blood to the lungs. A lack of oxygen in the blood may cause a blue tint to the baby’s skin, lips and nails (known as cyanosis). If left untreated, in some cases fluid may build up in the baby’s body (fetal non-immune hydrops) and heart failure can occur.

• #8 Ebstein Anomaly | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/e/ebstein

  Ebstein anomaly can be very mild to very severe. Many patients with milder forms of Ebstein anomaly do not have symptoms. […] Some babies and children have blue color to their skin (cyanosis). This happens because the flow of blood from the right atrium to the left atrium. Children may complain that their heart races, skips a beat, or just beats funny. They may tire more easily than other children or become short of breath. In teens and young adults, the sensation of heart skipping (palpitations) or fast heart rate, shortness of breath, and chest pain may be the first symptoms. Growth and development are normal in patients with Ebstein anomaly. […] Severely affected babies are often critically ill at birth. They may have low oxygen saturations (cyanosis) and heart failure needing immediate intensive care.

• #9 Ebstein Anomaly (for Parents) – Humana – Kentucky

  https://kidshealth.org/HumanaKentucky/en/parents/ebstein-anomaly.html

  Ebstein anomaly can cause problems that range from very mild to very serious. Kids with a milder form of the anomaly may not have any symptoms until they’re older. […] Two signs that an infant or child may have Ebstein anomaly are trouble breathing and a bluish coloring of the skin and nails (cyanosis). […] Ebstein anomaly also can make a child: fail to grow as expected, tire quickly, feel short of breath, cough a lot, feel a rapid heartbeat (palpitations), struggle to keep up with other kids in physical activities. […] In severe cases, a child also might have swelling (edema) in the legs or fluid in the belly (ascites). Doctors often hear extra heart sounds, including a murmur, when listening to a child’s heartbeat. […] A baby born with Ebstein anomaly often has other heart problems, such as an atrial septal defect (an abnormal hole between the upper chambers of the heart) or a patent foramen ovale (PFO, a normal opening between the upper chambers of the heart that usually closes shortly after birth).

• #10 Ebstein’s Anomaly | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/ebsteins-anomaly

  The most common sign of Ebstein’s anomaly in newborns and infants is a blue coloration of the skin, lips, or nails (cyanosis). In some severe cases, the infant may have trouble breathing. […] Older children may have the following symptoms: Cough, Rapid breathing or shortness of breath, Slow growth, Fatigue, Fast heartbeat, Swelling, Irregular heartbeat. […] In Ebstein’s anomaly, the leaflets are malformed and are positioned too low in the right ventricle. Sometimes, one of the leaflets is displaced downward into the ventricle, while another leaflet is larger than usual and may be abnormally attached to the wall of the ventricle. This causes enlargement of the atrium, and it can lead to congestive heart failure — a back-up of blood flow that results in a fluid buildup in the body.

• #11 Ebstein’s Anomaly | American Heart Association

  https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/ebsteins-anomaly

  Ebstein’s anomaly is a malformed heart valve between the right upper and lower heart chambers that does not properly close to keep the blood flow moving in the right direction. Blood may leak back from the lower to upper chambers on the right side of the heart. This may result in significant enlargement of the right heart chamber. In more extreme cases the size of the right ventricle (larger, lower chamber) is too small to allow for enough blood to go to the lungs. […] Symptoms can vary from mild to very severe. Some people may not have any symptoms, or symptoms may develop later in life. […] The symptoms that may appear shortly after birth include bluish-colored lips and nails due to low blood oxygen levels. If severe, the baby may have trouble breathing and feeding. Symptoms in older children include cough, failure to grow, fatigue, rapid breathing or shortness of breath, fast heartbeat, or heart rhythm problems. […] If the valve abnormality is especially severe, the child may have decreased stamina, fatigue, cyanosis, and sometimes fluid retention, which may lead to heart failure.

• #12 Ebstein’s Anomaly of the Tricuspid Valve | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/ebstein-s-anomaly-tricuspid-valve

  Some babies, children and adults with milder forms of Ebstein’s anomaly may have minimal symptoms. However more severe forms of Ebstein’s anomaly, which is often detected before a baby is born, can cause the baby to be very ill and require urgent treatment after birth. […] Symptoms of Ebstein’s anomaly include some or all of the following: Blue or purple tint to lips, skin and nails, which is called cyanosis; Difficulty with feeding or abnormal breathing; Heart murmur and clicks, which are abnormal heart sounds when a doctor listens with a stethoscope; Racing heart; Shortness of breath; Fatigue. […] Sometimes children with Ebstein’s anomaly of the tricuspid valve experience heart problems later in life, including irregular heartbeat and a leaky heart valve. Medicine, additional surgery or procedures, such as cardiac catheterization, may be required.

• #13 Ebstein Anomaly (for Parents) – Humana – Kentucky

  https://kidshealth.org/HumanaKentucky/en/parents/ebstein-anomaly.html

  In some children, the pulmonary valve (the other valve on the right side of the heart) may also be tight (called pulmonary stenosis) or even sealed off (pulmonary atresia). These pulmonary valve problems also contribute to cyanosis. […] Ebstein anomaly often affects the heart’s electrical system. Some kids will have an extra electrical pathway called Wolff-Parkinson-White syndrome (WPW), which can cause a very fast heartbeat (tachycardia) or an unsteady beat.

• #14 Ebstein Anomaly | Connecticut Children’s

  https://www.connecticutchildrens.org/specialties-conditions/cardiology/conditions/ebstein-anomaly

  Some babies with Ebstein anomaly are born with other heart problems, like an abnormal right ventricle, an atrial septal defect (ASD), pulmonary stenosis or pulmonary atresia. Often, Ebstein anomaly affects the hearts electrical system too, causing an irregular heartbeat. […] This condition can range from mild to serious. In mild cases, Ebstein anomaly might not cause any symptoms at all, and can go undetected for many years. […] More serious cases of Ebstein anomaly can cause the following symptoms. […] Bluish or greyish skin, lips and nails […] Heart murmur […] Heart beat thats too fast, too slow or irregular […] Trouble breathing, especially with activity […] Coughing […] Poor appetite […] Poor growth […] Low energy […] Swelling in the legs […] Swelling in the belly.

• #15 Ebstein’s Anomaly: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults

  Ebsteins anomaly is a rare birth defect. It affects the tricuspid valve in your heart and can cause an enlarged heart, irregular heartbeat and heart failure. The severity of the defect varies widely. If youre diagnosed as an adult, the condition is usually mild, although some people may need surgery. […] The condition and its symptoms range from mild to severe, depending on the extent of the malformations. […] When the condition is severe, symptoms appear shortly after birth or in the first months of life. The infants skin may have a bluish tint (cyanosis) from a lack of oxygen in the blood. They may also have early signs of heart failure, including: Rapid breathing. Shortness of breath. Slow weight gain. Swelling (edema) of the legs, abdomen or area around the eyes. […] If your condition is mild, you may not have symptoms or your symptoms may not appear until adulthood. In adults, symptoms include a bluish tint to the skin and an irregular heartbeat (arrhythmia). If you develop heart failure, your symptoms may include: Chest pain. Dizziness or fainting. Fatigue. Shortness of breath, especially during exercise. Swelling of the legs or abdomen.

• #16 Ebstein anomaly: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/007321.htm

  Ebstein anomaly is a rare heart defect in which parts of the tricuspid valve are abnormal. The condition is congenital, which means it is present at birth. […] The abnormality can be slight or very severe. Therefore, the symptoms can also range from mild to very severe. Symptoms can develop soon after birth, and can include bluish-colored lips and nails due to low blood oxygen levels. In severe cases, the baby appears very sick and has trouble breathing. In mild cases, the affected person may be asymptomatic for many years, sometimes even permanently. […] Symptoms in older children may include: Cough, Failure to grow, Fatigue, Rapid breathing, Shortness of breath, Very fast heartbeat. […] In general, the earlier symptoms develop, the more severe the disease. Some people may have either no symptoms or very mild symptoms. Others may worsen over time, developing blue coloring (cyanosis), heart failure, heart block, or dangerous heart rhythms.

• #17 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  The common presenting symptoms of this cardiac malformation include cyanosis, heart failure, and tachyarrhythmias; exertional dyspnea is common in older patients with Ebstein anomaly. […] Symptoms of heart failure in early childhood may be a prominent v wave in the jugular venous pulse from severe tricuspid regurgitation; this finding may be absent in torrential tricuspid regurgitation due to rapid equalization of pressures across the tricuspid valve. […] Studies suggest that slightly more than half of adult patients with Ebstein anomaly experience palpitations, with tachyarrhythmias being the first presenting clinical manifestation in almost 40% of those newly diagnosed with Ebstein anomaly. […] Symptoms of exertional dyspnea are commonly observed in older patients. Dyspnea can occur as a result of right-to-left shunting with resultant hypoxemia. Chronic fatigue and lower extremity edema are other clinical symptoms in patients who develop heart failure.

• #18 Ebstein’s Anomaly: Comprehensive Guide to Symptoms and Treatment – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/ebsteins-anomaly-comprehensive-guide-to-symptoms-and-treatment/

  Ebstein’s anomaly occurs when the tricuspid valve, which separates the right atrium from the right ventricle, is malformed. […] As the condition progresses, the heart may struggle to pump blood effectively, leading to symptoms such as shortness of breath, fatigue, and heart palpitations. […] Some individuals may have mild forms and live without noticeable symptoms, while others may experience severe complications that require surgical intervention. […] Shortness of breath, or dyspnea, affects approximately 40-50% of individuals with Ebstein’s anomaly. […] Fatigue is a common complaint in about 30-40% of patients with Ebstein’s anomaly. […] Palpitations, or the sensation of a rapid or irregular heartbeat, occur in 20-30% of patients with Ebstein’s anomaly. […] Swelling in the legs, also known as peripheral edema, is seen in about 20-30% of patients with Ebstein’s anomaly, particularly in those with advanced disease.

• #19 Ebstein’s anomaly – causes, symptoms, diagnosis and treatment | Longevity

  https://vocal.media/longevity/ebstein-s-anomaly-causes-symptoms-diagnosis-and-treatment

  Signs of Ebstein’s anomaly are low physical endurance, shortness of breath, paroxysmal tachycardia, cyanosis, cardiomegaly, right ventricular failure, arrhythmias. […] Clinical symptoms include diffuse cyanosis, poor exercise tolerance, heart pain, palpitations. 25-50% of patients with Ebstein’s anomaly have paroxysmal supraventricular tachycardia, 14% of them have WPW syndrome. […] With Ebstein’s anomaly, right ventricular failure may develop early – shortness of breath, liver enlargement, swelling and pulsation of the cervical veins. Arterial hypotension is often noted. The course of Ebstein’s anomaly is steadily progressing. The cause of death of older patients is most often heart failure and severe rhythm disturbances.

• #20 Ebstein Anomaly (for Parents) – Humana – Kentucky

  https://kidshealth.org/HumanaKentucky/en/parents/ebstein-anomaly.html

  In some children, the pulmonary valve (the other valve on the right side of the heart) may also be tight (called pulmonary stenosis) or even sealed off (pulmonary atresia). These pulmonary valve problems also contribute to cyanosis. […] Ebstein anomaly often affects the heart’s electrical system. Some kids will have an extra electrical pathway called Wolff-Parkinson-White syndrome (WPW), which can cause a very fast heartbeat (tachycardia) or an unsteady beat.

• #21 Ebstein’s Anomaly: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults

  The prognosis for Ebsteins anomaly varies widely. Some infants with the condition dont survive, while other people live a normal lifespan and never need treatment. In general, the prognosis is better if you have a mild form of the condition. […] Those who survive to adulthood have a milder form of the condition but may develop arrhythmias and heart failure. If this occurs, you may need surgery to repair or replace your tricuspid valve and fix other related heart problems.

• #22 Ebstein’s Anomaly: Symptoms and Treatment | Doctor

  https://patient.info/doctor/ebsteins-anomaly-pro

  Ebstein’s anomaly presents with a spectrum of congenital abnormalities of the tricuspid valve and the right ventricle. The very variable anatomy determines the clinical presentation ranging from asymptomatic to very severe. […] Presentation is often between the ages of 10 and 30 years but it can present at various stages of life: […] Neonatal life and infancy: presents with cyanosis and/or severe heart failure. Symptoms presenting in infancy often improve as the pulmonary vascular resistance decreases. […] Adult life: fatigue, exertional dyspnoea, cyanosis, tricuspid regurgitation and/or right heart failure and palpitations (arrhythmias are common). […] Cyanosis: common and often due to associated atrial right-to-left shunt and/or severe heart failure. Cyanosis is often transient in neonatal life with recurrence in adult life but may appear for the first time in adult life. In adult life, cyanosis progressively worsens and may be transiently increased due to paroxysmal arrhythmias. […] Fatigue and dyspnoea: due to right ventricular failure and decreased left ventricular ejection fraction. […] Palpitations and sudden cardiac death: due to paroxysmal supraventricular tachycardia or fatal ventricular arrhythmias.

• #23 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  The most common physical finding in neonates and infants with Ebstein anomaly is cyanosis, present in about 50% of cases. […] Patients with Ebstein anomaly display a spectrum of clinical manifestations; the age at presentation varies. Most cases of Ebstein anomaly present in infancy or childhood but a significant percentage of patients present in adulthood. […] The main predictors of mortality in patients with Ebstein anomaly include the degree of tricuspid displacement, amount of tricuspid regurgitation, and duration and degree of RV dysfunction. […] Decreased survival is seen in patients with Ebstein anomaly who do not undergo surgical repair; survival rates for these patients are 90% at 1 year, 75% at 10 years, 50% at 15 years, and 40% at 20 years.

• #24 Ebstein’s Anomaly: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults

  The prognosis for Ebsteins anomaly varies widely. Some infants with the condition dont survive, while other people live a normal lifespan and never need treatment. In general, the prognosis is better if you have a mild form of the condition. […] Those who survive to adulthood have a milder form of the condition but may develop arrhythmias and heart failure. If this occurs, you may need surgery to repair or replace your tricuspid valve and fix other related heart problems.

• #25 Ebstein’s Anomaly | Schneeweiss Adult Congenital Heart Center

  https://www.congenitalheart.cuimc.columbia.edu/conditions-we-treat/ebsteins-anomaly

  Symptoms of Ebstein’s anomaly are quite variable and range from the most severe form producing severe congestive heart failure and cyanosis at birth to milder cases that may not be discovered until adulthood. […] The main determinant in the clinical presentation of Ebstein’s anomaly is the degree of tricuspid regurgitation and its effect on right ventricular size and function. […] Delayed recognition of Ebstein’s anomaly until adolescence or adulthood is often associated with the development of a tachyarrhythmia (such as supraventricular tachycardia) or after the discovery of an enlarged heart following a chest x-ray. […] In an occasional patient, the leak in the tricuspid valve is minor but significant blood flow across the atrial septum results in cyanosis during exercise. […] However, before embarking on this approach it should be certain that the degree of tricuspid regurgitation is only mild.

• #26 Ebstein Anomaly and Malformation – MD Searchlight

  https://mdsearchlight.com/heart-health/ebstein-anomaly-and-malformation/

  The Celermajer index is a score that uses heart ultrasound imagery to predict mortality. […] The prognosis for Ebstein anomaly and malformation varies depending on several factors, including the degree of displacement and leaking of the tricuspid valve, the extent of right ventricle dysfunction, the presence of cyanosis and fluid accumulation around the heart, and the need for surgery.

• #27 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  The most common physical finding in neonates and infants with Ebstein anomaly is cyanosis, present in about 50% of cases. […] Patients with Ebstein anomaly display a spectrum of clinical manifestations; the age at presentation varies. Most cases of Ebstein anomaly present in infancy or childhood but a significant percentage of patients present in adulthood. […] The main predictors of mortality in patients with Ebstein anomaly include the degree of tricuspid displacement, amount of tricuspid regurgitation, and duration and degree of RV dysfunction. […] Decreased survival is seen in patients with Ebstein anomaly who do not undergo surgical repair; survival rates for these patients are 90% at 1 year, 75% at 10 years, 50% at 15 years, and 40% at 20 years.

• #28 Ebstein Anomaly and Malformation – MD Searchlight

  https://mdsearchlight.com/heart-health/ebstein-anomaly-and-malformation/

  Ebstein anomaly is a condition that can manifest differently based on the individual, with some people showing symptoms from infancy or childhood, while others may not present symptoms until adulthood. […] Newborns and infants with Ebstein anomaly often have a bluish skin cover, found in about half of the cases. […] On transitioning into adulthood, more than one-half of these patients may experience irregular and frequently fast heartbeats, with such instances being the initial symptoms for about 40% of newly diagnosed cases. […] Chronic exhaustion and swelling in the lower extremities could be seen in patients who develop heart failure. […] Patients with this anomaly who do not undergo surgery have survival rates of 90% at 1 year, 75% at 10 years, 50% at 15 years, and 40% at 20 years.

• #29 Ebstein Anomaly: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/154447-overview

  Patients can have a variety of symptoms related to the anatomic abnormalities of Ebstein anomaly and their hemodynamic effects or associated structural and conduction system disease, including the following: […] Symptoms of right heart failure, such as edema and ascites. […] Ebstein anomaly presents with fatigue, exertional dyspnea, cyanosis, tricuspid regurgitation and/or right heart failure, and palpitations; arrhythmias are common. […] The natural course of the disease varies according to the severity of tricuspid valve displacement. Patients presenting in infancy generally have severe disease and unfavorable prognosis. […] The mean age of presentation is in the middle teenage years. According to older observational data, approximately 5% of these patients survive beyond age 50 years. The oldest recorded patient lived to age 85 years.

• #30 Ebstein’s Anomaly: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults

  The prognosis for Ebsteins anomaly varies widely. Some infants with the condition dont survive, while other people live a normal lifespan and never need treatment. In general, the prognosis is better if you have a mild form of the condition. […] Those who survive to adulthood have a milder form of the condition but may develop arrhythmias and heart failure. If this occurs, you may need surgery to repair or replace your tricuspid valve and fix other related heart problems.

• #31 Ebstein’s Anomaly: Life Expectancy, Symptoms, Treatment

  https://www.emedicinehealth.com/how_long_do_people_with_ebsteins_anomaly_live/article_em.htm

  When diagnosed at birth, people with Ebsteins anomaly have an average life expectancy of 25 to 30 years. […] Generally, the earlier the disease is diagnosed, the more severe the condition. People with Ebsteins anomaly have an average life expectancy at birth of 25 to 30 years. […] Symptoms of Ebsteins anomaly can range from very mild to very severe and many patients with mild cases do not have any symptoms. […] In babies and children with Ebsteins anomaly, the condition is usually more serious and symptoms may include: Blue color to the skin (cyanosis), Fast heartbeat, Palpitations, Feeling as if the heart skips a beat, Abnormal heartbeats, Tiring more easily than other children, Shortness of breath, Cough, Failure to grow, Fatigue, Rapid breathing, Chest pain may be the first symptom. […] Severely affected babies may be critically ill at birth and often need immediate intensive care.

• #32 Ebstein anomaly: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/007321.htm

  Ebstein anomaly is a rare heart defect in which parts of the tricuspid valve are abnormal. The condition is congenital, which means it is present at birth. […] The abnormality can be slight or very severe. Therefore, the symptoms can also range from mild to very severe. Symptoms can develop soon after birth, and can include bluish-colored lips and nails due to low blood oxygen levels. In severe cases, the baby appears very sick and has trouble breathing. In mild cases, the affected person may be asymptomatic for many years, sometimes even permanently. […] Symptoms in older children may include: Cough, Failure to grow, Fatigue, Rapid breathing, Shortness of breath, Very fast heartbeat. […] In general, the earlier symptoms develop, the more severe the disease. Some people may have either no symptoms or very mild symptoms. Others may worsen over time, developing blue coloring (cyanosis), heart failure, heart block, or dangerous heart rhythms.

• #33 Ebstein Anomaly Treatment & Management: Medical Care, Surgical Care, Long-Term Monitoring

  https://emedicine.medscape.com/article/154447-treatment

  Ebstein anomaly presents with a spectrum of congenital abnormalities of the tricuspid valve and the right ventricle. The age of presentation with symptoms is variable, and a wide range of treatment options is available. […] Complete repair of Ebstein anomaly in symptomatic neonates has been shown to be feasible, with good early and late survival and excellent functional status. In patients aged 50 years or older with Ebstein anomaly, surgery is associated with good long-term survival and improved functional status, although long-term survival might be improved by performing surgery earlier. […] The trend is to perform surgery earlier rather later in the course of heart failure. Indications for surgery are generally as follows: New York Heart Association (NYHA) class I-II heart failure with worsening symptoms or with a cardiothoracic ratio of 0.65 or greater; NYHA class III-IV heart failure; History of paradoxical embolism; Significant cyanosis with arterial O2 saturation of 80% or less and/or polycythemia with hemoglobin of 16 g/dL or more; Arrhythmias refractory to medical and radiofrequency ablation. […] Functional status improves after surgery.

• #34 Ebstein’s Anomaly: Symptoms and Treatment | Doctor

  https://patient.info/doctor/ebsteins-anomaly-pro

  Ebstein’s anomaly presents with a spectrum of congenital abnormalities of the tricuspid valve and the right ventricle. The very variable anatomy determines the clinical presentation ranging from asymptomatic to very severe. […] Presentation is often between the ages of 10 and 30 years but it can present at various stages of life: […] Neonatal life and infancy: presents with cyanosis and/or severe heart failure. Symptoms presenting in infancy often improve as the pulmonary vascular resistance decreases. […] Adult life: fatigue, exertional dyspnoea, cyanosis, tricuspid regurgitation and/or right heart failure and palpitations (arrhythmias are common). […] Cyanosis: common and often due to associated atrial right-to-left shunt and/or severe heart failure. Cyanosis is often transient in neonatal life with recurrence in adult life but may appear for the first time in adult life. In adult life, cyanosis progressively worsens and may be transiently increased due to paroxysmal arrhythmias. […] Fatigue and dyspnoea: due to right ventricular failure and decreased left ventricular ejection fraction. […] Palpitations and sudden cardiac death: due to paroxysmal supraventricular tachycardia or fatal ventricular arrhythmias.

• #35 Ebstein’s Anomaly: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults

  Ebsteins anomaly is a rare birth defect. It affects the tricuspid valve in your heart and can cause an enlarged heart, irregular heartbeat and heart failure. The severity of the defect varies widely. If youre diagnosed as an adult, the condition is usually mild, although some people may need surgery. […] The condition and its symptoms range from mild to severe, depending on the extent of the malformations. […] When the condition is severe, symptoms appear shortly after birth or in the first months of life. The infants skin may have a bluish tint (cyanosis) from a lack of oxygen in the blood. They may also have early signs of heart failure, including: Rapid breathing. Shortness of breath. Slow weight gain. Swelling (edema) of the legs, abdomen or area around the eyes. […] If your condition is mild, you may not have symptoms or your symptoms may not appear until adulthood. In adults, symptoms include a bluish tint to the skin and an irregular heartbeat (arrhythmia). If you develop heart failure, your symptoms may include: Chest pain. Dizziness or fainting. Fatigue. Shortness of breath, especially during exercise. Swelling of the legs or abdomen.

• #36 Ebstein Anomaly in Infants | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/ebstein-anomaly/

  While pregnant, an obstetrician or maternal fetal medicine specialist can identify the anomaly during a fetal echocardiogram. […] After birth, your child may experience fatigue (being tired all the time). If this happens, your child’s doctor may suggest they see a heart expert, who will look for an enlarged heart on an X-ray, or a heart murmur (sounds created by rapid blood flow) on an electrocardiogram (EKG). […] Enormous strides in medicine and technology have improved long-term outcomes for patients with Ebstein anomaly. […] Children with more severe forms of Ebstein anomaly, especially those who have single ventricle repair may have a longer recovery, will need more surgeries and will need lifelong medications. Patients with milder forms may not need medical care until later in life. […] In milder forms of Ebstein anomaly, heart problems may start later in life. These issues include rapid heartbeats, muscle dysfunction and a leaky tricuspid valve.

• #37 Ebstein Anomaly | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/e/ebstein

  Ebstein anomaly can be very mild to very severe. Many patients with milder forms of Ebstein anomaly do not have symptoms. […] Some babies and children have blue color to their skin (cyanosis). This happens because the flow of blood from the right atrium to the left atrium. Children may complain that their heart races, skips a beat, or just beats funny. They may tire more easily than other children or become short of breath. In teens and young adults, the sensation of heart skipping (palpitations) or fast heart rate, shortness of breath, and chest pain may be the first symptoms. Growth and development are normal in patients with Ebstein anomaly. […] Severely affected babies are often critically ill at birth. They may have low oxygen saturations (cyanosis) and heart failure needing immediate intensive care.

• #38 Ebstein’s Anomaly | American Heart Association

  https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/ebsteins-anomaly

  Ebstein’s anomaly is a malformed heart valve between the right upper and lower heart chambers that does not properly close to keep the blood flow moving in the right direction. Blood may leak back from the lower to upper chambers on the right side of the heart. This may result in significant enlargement of the right heart chamber. In more extreme cases the size of the right ventricle (larger, lower chamber) is too small to allow for enough blood to go to the lungs. […] Symptoms can vary from mild to very severe. Some people may not have any symptoms, or symptoms may develop later in life. […] The symptoms that may appear shortly after birth include bluish-colored lips and nails due to low blood oxygen levels. If severe, the baby may have trouble breathing and feeding. Symptoms in older children include cough, failure to grow, fatigue, rapid breathing or shortness of breath, fast heartbeat, or heart rhythm problems. […] If the valve abnormality is especially severe, the child may have decreased stamina, fatigue, cyanosis, and sometimes fluid retention, which may lead to heart failure.

• #39 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  The common presenting symptoms of this cardiac malformation include cyanosis, heart failure, and tachyarrhythmias; exertional dyspnea is common in older patients with Ebstein anomaly. […] Symptoms of heart failure in early childhood may be a prominent v wave in the jugular venous pulse from severe tricuspid regurgitation; this finding may be absent in torrential tricuspid regurgitation due to rapid equalization of pressures across the tricuspid valve. […] Studies suggest that slightly more than half of adult patients with Ebstein anomaly experience palpitations, with tachyarrhythmias being the first presenting clinical manifestation in almost 40% of those newly diagnosed with Ebstein anomaly. […] Symptoms of exertional dyspnea are commonly observed in older patients. Dyspnea can occur as a result of right-to-left shunting with resultant hypoxemia. Chronic fatigue and lower extremity edema are other clinical symptoms in patients who develop heart failure.

• #40 Neurological, Extracardiac, and Cardiac Manifestations of Ebstein’s Anomaly Along With its Genetics, Diagnostic Techniques, Treatment Updates, and the Future Ahead

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10024951/

  Adult people with minor Ebstein’s anomaly may remain asymptomatic or might develop arrhythmias, cyanosis, and worsening right-sided heart failure. These individuals frequently have dilated right atriums and right atrial ventricles, in mild to severe proportions. […] The Kent bundle, which forms an aberrant electrical connection between the RV and atrium, is also linked to Ebstein’s abnormality. The electrical impulse will stray from its normal course as a result of such a beam, increasing the likelihood that the patient would experience Wolff-Parkinson-White syndrome. The supraventricular tachycardia that characterizes this arrhythmia is erratic.

• #41 Ebsteins anomaly of the tricuspid valve history and symptoms – wikidoc

  https://www.wikidoc.org/index.php/Ebsteins_anomaly_of_the_tricuspid_valve_history_and_symptoms

  The common symptoms include cyanosis, exertional dyspnea, failure to grow, fatigue and, palpitations may occur secondary to SVTs (supraventricular tachycardia) and WPW (Wolff-Parkinson-White syndrome), Paradoxical embolization may cause brain abscesses (right to left shunting due to interatrial communication). […] The symptoms of Ebstein’s anomaly depend upon the degree of apical displacement of the tricuspid valve leaflet as well as the degree of dysfunction of the tricuspid valve. If the tricuspid valve is severely deformed, fetal hydrops may occur. If the valve is functioning, patients may remain symptom free for many years. The common symptoms include: Cyanosis, Exertional dyspnea, Failure to grow, Fatigue and cyanosis, Palpitations may occur secondary to SVTs (supraventricular tachycardia) and WPW (Wolff-Parkinson-White syndrome), Paradoxical embolization may cause brain abscesses (right to left shunting due to interatrial communication).

• #42 ABOUT EA | ebsteinsanomaly

  https://www.ebsteinsanomaly.org/about-ea

  WHO: Ebsteins Anomaly is present at birth but the signs and symptoms can occur at any age. If the defect is very severe, problems will start right after a baby is born. If the problem is minor, then symptoms may be delayed until people become teenagers or even adults. […] SIGNS SYMPTOMS: The main problem in Ebsteins Anomaly is that the tricuspid valve is not located in the correct position. The valve is not only in the wrong position, but it also leaks because the parts dont all move correctly. The leaky valve can cause blood to back up into the rest of the body, causing swelling of the legs and belly, an enlarged liver and difficulty breathing. If the blood backs up through the connection between the left and right atria, then there is mixing of oxygenated and un-oxygenated blood that is carried to the body. This can cause a bluish discoloration of the fingers and lips called cyanosis. The hole between the atrial chambers can also allow blood clots to pass from the right side of the heart to the left and possibly cause strokes in the brain or tissue damage in the heart. Sometimes, children with Ebsteins Anomaly may also have an abnormal heart rhythm that can possibly cause fainting, a feeling of their heart racing or skipping beats, shortness of breath, or dizziness.

• #43 Ebstein Anomaly Treatment & Management: Medical Care, Surgical Care, Long-Term Monitoring

  https://emedicine.medscape.com/article/154447-treatment

  Ebstein anomaly presents with a spectrum of congenital abnormalities of the tricuspid valve and the right ventricle. The age of presentation with symptoms is variable, and a wide range of treatment options is available. […] Complete repair of Ebstein anomaly in symptomatic neonates has been shown to be feasible, with good early and late survival and excellent functional status. In patients aged 50 years or older with Ebstein anomaly, surgery is associated with good long-term survival and improved functional status, although long-term survival might be improved by performing surgery earlier. […] The trend is to perform surgery earlier rather later in the course of heart failure. Indications for surgery are generally as follows: New York Heart Association (NYHA) class I-II heart failure with worsening symptoms or with a cardiothoracic ratio of 0.65 or greater; NYHA class III-IV heart failure; History of paradoxical embolism; Significant cyanosis with arterial O2 saturation of 80% or less and/or polycythemia with hemoglobin of 16 g/dL or more; Arrhythmias refractory to medical and radiofrequency ablation. […] Functional status improves after surgery.

• #44 Ebstein anomaly: Management and prognosis – UpToDate

  https://www.uptodate.com/contents/ebstein-anomaly-management-and-prognosis

  Ebstein anomaly is a congenital malformation that is characterized primarily by abnormalities of the tricuspid valve and right ventricle. The clinical presentation of Ebstein anomaly varies widely, ranging from fetal recognition or the symptomatic neonate to the asymptomatic adult, depending upon the degree of anatomic abnormality and concomitant lesions (eg, atrial septal defect). […] The approach to the management of patients with Ebstein anomaly is determined by the patient’s age and clinical presentation including the presence of symptoms of heart failure secondary to tricuspid regurgitation and right heart failure, cyanosis, and right ventricular dilation or dysfunction. […] Indications for intervention or surgical repair of children and adults with Ebstein anomaly include worsening heart failure (HF), progressive cyanosis or uncontrolled arrhythmias. Surgical repair may also be considered if there is decline in functional capacity with evidence of right ventricular (RV) dysfunction and/or hypoxia.

• #45 Ebstein’s Anomaly

  https://www.healio.com/cardiology/learn-the-heart/cardiology-review/topic-reviews/ebsteins-anomaly

  Ebsteins anomaly is a congenital heart defect in which the tricuspid valve leaflets are abnormally displaced toward the cardiac apex resulting in a small right ventricle and massive enlargement of the right atrium. […] Ebstein’s anomaly is frequently associated with Wolff-Parkinson-White syndrome which can manifest as atrioventricular reentrant tachycardia (AVRT) or atrial fibrillation with pre-excitation. […] Ebstein’s anomaly is associated with atrial septal defects in about 50% of cases. […] Tricuspid valve regurgitation can ensue and frequently requires surgical repair. Indications for repair of the Ebsteins anomaly and associated atrial septal defect (if present) include New York Heart Association Functional Class III or IV symptoms, marked right heart enlargement, cyanosis, and transient ischemic attack (TIA) or stroke.

• #46 Ebstein Anomaly Treatment & Management: Medical Care, Surgical Care, Long-Term Monitoring

  https://emedicine.medscape.com/article/154447-treatment

  Ebstein anomaly presents with a spectrum of congenital abnormalities of the tricuspid valve and the right ventricle. The age of presentation with symptoms is variable, and a wide range of treatment options is available. […] Complete repair of Ebstein anomaly in symptomatic neonates has been shown to be feasible, with good early and late survival and excellent functional status. In patients aged 50 years or older with Ebstein anomaly, surgery is associated with good long-term survival and improved functional status, although long-term survival might be improved by performing surgery earlier. […] The trend is to perform surgery earlier rather later in the course of heart failure. Indications for surgery are generally as follows: New York Heart Association (NYHA) class I-II heart failure with worsening symptoms or with a cardiothoracic ratio of 0.65 or greater; NYHA class III-IV heart failure; History of paradoxical embolism; Significant cyanosis with arterial O2 saturation of 80% or less and/or polycythemia with hemoglobin of 16 g/dL or more; Arrhythmias refractory to medical and radiofrequency ablation. […] Functional status improves after surgery.

• #47 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  The most common physical finding in neonates and infants with Ebstein anomaly is cyanosis, present in about 50% of cases. […] Patients with Ebstein anomaly display a spectrum of clinical manifestations; the age at presentation varies. Most cases of Ebstein anomaly present in infancy or childhood but a significant percentage of patients present in adulthood. […] The main predictors of mortality in patients with Ebstein anomaly include the degree of tricuspid displacement, amount of tricuspid regurgitation, and duration and degree of RV dysfunction. […] Decreased survival is seen in patients with Ebstein anomaly who do not undergo surgical repair; survival rates for these patients are 90% at 1 year, 75% at 10 years, 50% at 15 years, and 40% at 20 years.

• #48 Ebstein Anomaly | UK Healthcare

  https://ukhealthcare.uky.edu/gill-heart-vascular-institute/conditions/adult-congenital-heart-disease/ebstein-anomaly

  Symptoms of Ebstein anomaly vary in intensity from mild to debilitating based on the severity of the heart defect. Some infants with the condition experience life-threatening symptoms soon after birth. Others with Ebstein anomaly may never have symptoms or be symptom-free well into adulthood. […] Adults with Ebstein anomaly may experience: Abnormal heart rhythms, Chest discomfort, Cough, Cyanosis (bluish skin), Dizziness, Fatigue, Fast breathing, Fluid retention, leading to swelling in the abdomen, ankles, feet or legs, Rapid heartbeat, also called tachycardia, Reduced stamina, Shortness of breath with exertion. […] The prognosis for patients with Ebstein anomaly is related to the severity of symptoms and how old the patient is when symptoms start. Typically, the earlier the diagnosis or the more severe the symptoms, the poorer the prognosis.

• #49

  https://www.pted.org/?id=ebstein4

  The symptoms associated with this defect are extremely variable, sometimes being apparent even before birth and sometimes being so slight or absent that the anomaly is not discovered until adulthood. […] Those patients who are diagnosed in later life will usually have developed one or more of the following symptoms: an enlarged heart, an arrhythmia (often caused by enlargement of the right atrium), a heart murmur, some degree of cyanosis (blueness caused by low oxygen saturation in the arterial blood supply), or decline in the ability to tolerate exertion. […] The post-operative prognosis is normally quite good and the patient may expect an increase in exercise tolerance as well as a dramatic decrease or disappearance of other symptoms.

• #50 ABOUT EA | ebsteinsanomaly

  https://www.ebsteinsanomaly.org/about-ea

  PROGNOSIS: The outcome usually depends on how early in life the child started having signs or symptoms and how badly the tricuspid valve is leaking. The earlier that heart failure or abnormal rhythms begin, the more serious is the condition. For those children diagnosed after one year of life, the outcome is usually very good with people living normal lives.

• #51 Ebstein’s Anomaly: Life Expectancy, Symptoms, Treatment

  https://www.emedicinehealth.com/how_long_do_people_with_ebsteins_anomaly_live/article_em.htm

  When diagnosed at birth, people with Ebsteins anomaly have an average life expectancy of 25 to 30 years. […] Generally, the earlier the disease is diagnosed, the more severe the condition. People with Ebsteins anomaly have an average life expectancy at birth of 25 to 30 years. […] Symptoms of Ebsteins anomaly can range from very mild to very severe and many patients with mild cases do not have any symptoms. […] In babies and children with Ebsteins anomaly, the condition is usually more serious and symptoms may include: Blue color to the skin (cyanosis), Fast heartbeat, Palpitations, Feeling as if the heart skips a beat, Abnormal heartbeats, Tiring more easily than other children, Shortness of breath, Cough, Failure to grow, Fatigue, Rapid breathing, Chest pain may be the first symptom. […] Severely affected babies may be critically ill at birth and often need immediate intensive care.

• #52 EBSTEIN ANOMALY: A COMPLEX HEART DEFECT | Mya Care

  https://myacare.com/blog/ebstein-anomaly-a-complex-heart-defect

  A patient with untreated Ebstein anomaly can suffer a wide variety of blood flow-related problems that result in multi-organ congestion involving dysfunction of the heart, lungs, liver, spleen, and kidneys. These problems tend to emerge decades after living with the issue and can considerably shorten patients’ lifespans. […] The treatment for Ebstein Anomaly depends on the severity of the tricuspid regurgitation and the symptoms experienced by the individual. In some instances, treatment is not necessary, and the condition only requires close monitoring. […] If symptoms are present, surgery is often necessary to correct the defect. If left untreated, those with Ebstein anomaly may live to an average of 32 years old, whereas with surgical repair, they can live an average lifespan. […] Individuals with Ebstein anomaly need to work closely with their doctors to monitor their heart health and manage any symptoms that may arise, even after surgery.

• #53 Ebstein’s anomaly

  https://med.uth.edu/heartandvascular/ebsteins-anomaly/

  The severity of symptoms in individuals with Ebsteins anomaly can vary widely. Some people may have only mild symptoms or be asymptomatic, while others may experience severe symptoms. Common symptoms may include: Cyanosis (bluish skin or lips) due to reduced oxygen levels in the blood. Heart murmur: An abnormal sound heard through a stethoscope due to blood flow turbulence in the heart. Shortness of breath, especially during physical activity. Fatigue and weakness. Irregular heartbeats (arrhythmias). Swelling of the legs and ankles (edema). Severe cases of Ebsteins anomaly can lead to heart failure and may present as a medical emergency. […] Ebsteins anomaly patients should be monitored life long, even without symptoms.

• #54 EBSTEIN ANOMALY: A COMPLEX HEART DEFECT | Mya Care

  https://myacare.com/blog/ebstein-anomaly-a-complex-heart-defect

  A patient with untreated Ebstein anomaly can suffer a wide variety of blood flow-related problems that result in multi-organ congestion involving dysfunction of the heart, lungs, liver, spleen, and kidneys. These problems tend to emerge decades after living with the issue and can considerably shorten patients’ lifespans. […] The treatment for Ebstein Anomaly depends on the severity of the tricuspid regurgitation and the symptoms experienced by the individual. In some instances, treatment is not necessary, and the condition only requires close monitoring. […] If symptoms are present, surgery is often necessary to correct the defect. If left untreated, those with Ebstein anomaly may live to an average of 32 years old, whereas with surgical repair, they can live an average lifespan. […] Individuals with Ebstein anomaly need to work closely with their doctors to monitor their heart health and manage any symptoms that may arise, even after surgery.

Zobacz więcej