Ebstein anomaly is a rare heart defect in which the tricuspid valve the valve between the upper right chamber right atrium and the lower right chamber right ventricle of the heart isnt formed properly. Ebsteins anomaly is a malformation of the tricuspid valve. Often there s also a hole in the wall between the atria, the heart s two upper chambers. Replacement of the tricuspid valve has been more successful in older children and adults than in infants, but overall, less successful than. In ebsteins anomaly, one or two of the three leaflets are stuck to the wall of the heart and dont move normally. Ebstein anomaly is a rare heart defect that affects the tricuspid valve one of the hearts four valves. Ebstein s anomaly is a malformation of the tricuspid valve. Paradoxical embolism associated with ebsteins anomaly in an adult.
Ebsteins anomaly can result in severe tricuspid valve regurgitation reverse blood flow, heart rhythm disorders and associated atrial septal defects. In patients with ebsteins anomaly, the valve between the chambers on the right side of the heart the tricuspid valve does not close correctly. Because so little is known about this latter group, we. Ebstein s anomaly is a complex malformation that has been treated by various surgical techniques, with variable results, since 1958.
The aim of the present study was to define the ecg characteristics before and after ablation of an accessory a. Renewed interest in the natural history of ebstein s anomaly has been created by recent surgical innovations in its management. The clinical presentation of ebstein anomaly varies widely, ranging from the critically ill neonate to the asymptomatic adult, depending upon the degree of anatomic abnormality. In patients with ebstein s anomaly, the valve between the chambers on the right side of the heart the tricuspid valve does not close correctly. Cone reconstruction of the tricuspid valve for ebsteins. Some children with ebsteins anomaly have wolffparkinsonwhite syndrome, which means there is an extra electrical connection between the upper and the lower chambers of the heart.
Tricuspid valve replacement and various types of plastic reconstruction are the two methods of treating ebstein s anomaly. Ebsteins anomaly is the most common congenital heart disease affecting the tricuspid valve. Perioperative and anesthetic considerations in ebsteins anomaly. Cases with severe deformity can lead to congestive heart failure during the neonatal period or even intrauterine death. Mild ebstein s anomaly may have no symptoms during childhood and present later in life with shortness of breath, fatigue and decreasing exercise tolerance. Additionally the presented method of ebsteins anomaly repair has its technical limitation in the presence of a small atl and ptl or in carpentier type d disease that prevents the creation of a monocuspid valve, necessitating prosthetic tv replacement in 5 out of 29 patients presenting with ebsteins anomaly at. Tricuspid valve replacement and various types of plastic reconstruction are the two methods of treating ebsteins anomaly. Ebsteins anomaly is a rare congenital meaning it is present at birth heart defect in which the hearts tricuspid valve is abnormal.
Renewed interest in the natural history of ebsteins anomaly has been created by recent surgical innovations in its management. The cone reconstruction of the tricuspid valve in ebstein. Prenatal sonographic detection of ebsteins anomaly mariah c. Ebsteins anomaly johns hopkins textbook of cardiothoracic.
Severe ebstein s anomaly may cause symptoms in newborns including cyanosis and heart failure. Ebstein anomaly has heterogeneous anatomy and numerous operative techniques are described. The tricuspid valve separates the right atrium the chamber that receives blood from the body from the right ventricle the chamber that pumps blood to the lungs. Echocardiography in the diagnosis of ebsteins anomaly. Ebsteins anomaly occurs in 1 percent of all congenital heart defects and represents 0. The indications for surgical intervention in patients with ebsteins anomaly remain controversial in asymptomatic patients, although the natural history of the disease is a relentless progression to congestive heart failure, arrhythmias, or both 16 x 16 giuliani, e. In ebstein s anomaly, one or two of the three leaflets are stuck to the wall of the heart and dont move normally. A variety of cardiac abnormalities are associated with ebsteins anomaly, including atrial septal defect, conduction system abnormalities, patent foramen ovale, pulmonary stenosis or atresia, and ventricular septal defect. Ebsteins anomaly is a rare congenital heart disorder occurring in 1 per 200 000 live births and accounting for 1% of all cases of congenital heart disease. Sep 11, 2009 ebstein s anomaly of the tricuspid valve is a congenital malformation with apical displacement and tethering of the valve resulting in atrialization of a portion of the ventricle. The first case was that of an 18yearold girl with minimal cyanosis and minimal exercise intolerance. Ebsteins anomaly is a rare heart defect in which parts of the tricuspid valve which separates the right ventricle from the right atrium are abnormal. Its classified as a critical congenital heart defect 1 accounting for ebsteins anomaly can result in severe tricuspid valve regurgitation reverse blood flow, heart rhythm disorders and associated atrial septal defects.
Ebsteins anomaly has many different presentations depending upon the severity of the lesion. Ebsteins anomaly is a rare congenital present at birth defect in the right side of the heart. Ebsteins anomaly may present at any age and has a highly variable clinical. Its classified as a critical congenital heart defect accounting for pdf the surgical management of ebstein anomaly. The severity of the morphology of the lesion and ventricular function determine the spectrum of surgical techniques that. Ebsteins anomaly is the most common congenital malformation of the tricuspid valve. We present the case of an infant with prenatal diagnosis, at 32 weeks gestation, of ebsteins anomaly without anterograde flow from right ventricular to pulmonary atresia pafunctional pa with flow reversal in the ductus arteriosus.
Full text get a printable copy pdf file of the complete article 1. Often theres also a hole in the wall between the atria, the hearts two upper chambers. The aim of this investigation is to demonstrate that in ebsteins anomaly ea the right ventricle rv is affected in its three portions and to establish an anatomoechocardiographic correlation between the anatomic features and the equivalent echocardiographic images. Ebsteins anomaly is characterized by a downward displacement of the septal and posterior leaflet attachments at the junction of the inlet and trabecular portions of the right ventricle. The goals of surgery are to treat the valvular disease and, if necessary, the dysfunction of the right ventricle. In this defect, there is a downward displacement of the tricuspid valve located between the upper and lower chambers on the right side of the heart into the right bottom chamber of the heart or right ventricle. A 26yearold mixedrace pregnant woman with a history of apparent health evaluated in a community genetic counseling clinic with increased risk due to exposure to teratogens and mutagens was presented. Ebstein s anomaly, also called ebstein s malformation, is a rare, congenital present at birth heart defect. Nov 23, 2007 ebstein s anomaly has a highly variable natural history that depends on the degree of abnormality of the tricuspid valve, with a spectrum from mild to severe forms 1, 4, 5, 18.
In 1972, the authors developed a repair that consisted of plication of the free wall of the atrialized portion of the right ventricle, posterior tricuspid anuloplasty, and right atrial reduction. Because the tricuspid valve is malformed in ebstein s anomaly, it often doesnt. Echocardiography is the procedure of choice for diagnosis of ebsteins anomaly. Ebstein s anomaly is a congenital malformation of the right ventricle and tricuspid valve that is characterized by multiple features that can exhibit an infinite spectrum of malformation. The backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Ebsteins anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced towards the apex of the right ventricle of the heart. Several operations have been undertaken with varying results.
Listen to the audio pronunciation in the cambridge english dictionary. Electrocardiographic characteristics of patients with. Ebsteins anomaly is a complex, congenital heart defect characterized by a malformation of the tricuspid valve and right side of the heart. Environmental factors and drug use can also influence the development of the defect.
Perioperative and anesthetic considerations in ebsteins. Cone repair provides a near anatomic tricuspid valve repair. Preface ebsteins anomaly is a rare congenital heart disorder occurring in. Anatomical description and types there is significant variation in the anatomy of the valve but ebstein s anomaly always involves, at least in part, the septal and posterior leaflets which are deformed and displaced toward the. Additionally the presented method of ebstein s anomaly repair has its technical limitation in the presence of a small atl and ptl or in carpentier type d disease that prevents the creation of a monocuspid valve, necessitating prosthetic tv replacement in 5 out of 29 patients presenting with ebstein s anomaly at our institution. Management and longterm outcome of neonatal ebstein anomaly. Someone with ebsteins anomaly has a malformed not formed correctly and improperly positioned tricuspid valve. It happens because of a problem with how the valve forms before a babys birth.
Some people with ebsteins anomaly require heart valve replacement, while others may only develop a. Ebsteins anomaly is a congenital malformation of the right ventricle and tricuspid valve that is characterized by multiple features that can exhibit an infinite spectrum of malformation. Ebsteins anomaly is a complex and heterogeneous form of congenital heart disease characterized by malformation and apical displacement of the tricuspid valve leaflets. Ebsteins anomaly in xxy klinefelters syndrome jama. Ebsteins a nomaly is a rare heart defect in which parts of the tricuspid valve which separates the right ventricle from the right atrium are abnormal. Severe ebsteins anomaly may cause symptoms in newborns including cyanosis and heart failure. It is classified as a critical congenital heart defect accounting for ebsteins anomaly of the leftsided tricuspid valve. The purpose of this study was to examine our experience with cone repair. Ebsteins anomaly is the association of tricuspid valve insufficiency with a right ventricle anomaly. The patient is monitored with a radial artery catheter, a.
It happens because of a problem with how the valve forms before a baby s birth. In ebstein anomaly, two leaflets of the tricuspid valve are displaced downward into the pumping chamber. Apr 30, 2014 ebstein s anomaly is a rare heart defect in which parts of the tricuspid valve which separates the right ventricle from the right atrium are abnormal. Ebsteins anomaly with reversible functional pulmonary. Ebsteins anomaly of the tricuspid valve is a complex malformation. Because the tricuspid valve is malformed in ebsteins anomaly, it often doesnt. Patients may present at any time from the neonatal period to adulthood with symptoms ranging from cardiac failure and cyanosis to paroxysmal arrhythmias. Ebsteins anomaly and extracardiac defects jama pediatrics. Ebsteins anomaly genetic and rare diseases information. Although the average survival with ebsteins anomaly, when isolated, except for a defect in the atrial septum is about 25 years, at least seven patients surviving for 70 years or longer have been reported. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The mean age of death is approximately 20 years, with 15% alive at 60 years. The right side of the heart is where blood returns from the rest of the body and gets.
Chest xray showed severe cardiomegaly and echocardiogram confirmed ebsteins anomaly with a thickened non. Ebstein anomaly ea is a rare congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets. Pdf ebsteins anomaly in prenatal diagnosis revista. Ebsteins anomaly of the tricuspid valve is a relatively rare form of congenital heart disease that has long been a challenge to electrophysiologists and cardiac surgeons. Ebsteins anomaly of the tricuspid valve a natural laboratory for reentrant tachycardias edward p. Several different operations have been used in patients with ebstein s anomaly. Ebstein s anomaly ea is a rare congenital malformation of the tricuspid valve and right ventricle characterized by fig 1. There have been cases, though, where the condition develops by chance and with no apparent underlying cause according to an article by stanford health care. It is our purpose to add one more diagnostic feature to the present physiologic findings characterizing ebsteins malformation, an abnormality which has been well documented in the last few years.
It should be noted that the valvar leaflets are also abnormal in ebsteins malformation. Ebsteins anomaly is a malformation of the tricuspid valve and right ventricle. Ebsteins anomaly of the tricuspid valve can also be associated with problems in the electrical system that controls the hearts pumping. Ebsteins anomalyhow to correct severe anatomical forms. Some people with ebsteins anomaly require heart valve replacement, while others may only develop a mild heart rhythm disorder. To our knowledge, this observation has not been described previously.
Ebstein s anomaly has many different presentations depending upon the severity of the lesion. Since many severe congenital heart diseases do not permit survival into puberty, it is possible that the association of klinefelters syndrome with congenital heart disease is being missed. Ebsteins anomaly ea is a rare congenital malformation of the tricuspid valve, often associated with other cardiac malformations, especially atrial septal defect. Ebsteins anomaly of the tricuspid valve is a congenital malformation with apical displacement and tethering of the valve resulting in atrialization of a portion of the ventricle. Ebstein s anomaly is mild in most adults who have it, so they dont need surgery. The medical records of 40 neonates with a diagnosis of ebstein anomaly who were admitted to our. Pdf ebstein anomaly ea is a rare congenital malformation of the heart that is characterized by apical displacement of the septal and posterior. The tricuspid valve separates the right lower heart chamber right ventricle from the right upper heart chamber right atrium. Ebsteins anomaly of the heart occurring in a boy with xxy klinefelters syndrome is a combination which has not been previously reported. Ebsteins anomaly embryology anatomy physiology natural history clinical findings laboratory findings management 3. Mild ebsteins anomaly may have no symptoms during childhood and present later in life with shortness of breath, fatigue and decreasing exercise tolerance.
The alterations of each portions of the rv were described. Ebsteins anomaly is a rare congenital heart disorder occurring in. Walsh, md abstract ebsteins anomaly of the tricuspid valve is a relatively rare form of congenital heart disease that has long been a challenge to electrophysiologists and cardiac surgeons. Ebstein anomaly is a congenital malformation involving the tricuspid valve and right ventricle rv. Ebstein anomaly is a rare heart defect that affects the tricuspid valve one of the heart s four valves. Ebsteins anomaly ea, a rare congenital heart disease, results from the failure of delami. This classification is particularly helpful withneonatal ebsteins anomaly. In ebstein anomaly, the something different is the position of the. The defect usually causes the valve to work poorly, often resulting in blood. The most common involves a repair of the tricuspid valve.
Ebsteins anomaly is a special form of tricuspid valve dysplasia, characterized by the. But sometimes the tricuspid valve leaks severely enough to result in heart failure or cyanosis. As a result, blood leaks back through the valve and into the right atrium. In addition to the hemodynamic burden of the actual valve defect, ebsteins patients must also contend with an extraordinarily high incidence of tachyarrhythmias, most of which can be attributed to accessory. Pdf on oct 3, 2018, sinem altunyuva usta and others published ebsteins anomaly find, read and cite all the research. Ebsteins anomaly is a complex malformation that has been treated by various surgical techniques, with variable results, since 1958. Ebsteins anomaly, also called ebsteins malformation, is a rare, congenital present at birth heart defect. Ebstein anomaly is a congenital malformation that is characterized primarily by abnormalities of the tricuspid valve and right ventricle. Ebstein s anomaly is a rare defect that involves the tricuspid valve and right ventricle with an unknown embryology. The cause of ebstein anomaly is heterogeneous with most cases thought to be a multifactorial trait. Ebsteins anomaly of the tricuspid valve occurs as an isolated defect with other forms of congenital heart disease such as transposition of the great arteries or tetralogy of fallot or, rarely, in association with extracardiac malformations. A value of greater than 8 mmm 2 is diagnostic of ebsteins malformation.