eMedicine Specialties > Cardiology > Congenital Heart Disease in the Adult

Ebstein Anomaly

Author: Kamran Riaz, MD, Clinical Assistant Professor, Department of Internal Medicine, Section of Cardiology, Wright State University School of Medicine
Coauthor(s): Alan D Forker, MD, Professor of Medicine, Program Director of Cardiovascular Fellowship, MidAmerica Heart Institute, University of Missouri at Kansas City School of Medicine; Director, Outpatient Lipid Diabetes Research Center, MidAmerica Heart Institute of Saint Luke's Hospital
Contributor Information and Disclosures

Updated: Feb 6, 2008

Introduction

Background

Ebstein anomaly is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.

Wilhelm Ebstein first described a patient with cardiac defects typical of Ebstein anomaly in 1866. In 1927, Alfred Arnstein suggested the name Ebstein's anomaly for these defects. In 1937, Yates and Shapiro described the first case of the anomaly with associated radiographic and electrocardiographic data.

Pathophysiology

The embryological development of tricuspid valve leaflets and chordae involves undermining of the right ventricular free wall. This process continues to the level of the atrioventricular (AV) junction. In Ebstein anomaly, this process of undermining is incomplete and falls short of reaching the level of the AV junction. In addition, the apical portions of the valve tissue, which normally undergo resorption, fail to resorb completely. This results in distortion and displacement of the tricuspid valve leaflets, and a part of the right ventricle becomes atrialized. Ebstein anomaly is commonly associated with other congenital, structural, or conduction system disease, including intracardiac shunts, valvular lesions, and accessory conduction pathways (eg, Wolff-Parkinson-White [WPW] syndrome).

The hemodynamic consequences of Ebstein anomaly result from displaced and malformed tricuspid leaflets and atrialization of the right ventricle. The leaflet anomaly leads to tricuspid regurgitation. The severity of regurgitation depends on the extent of leaflet displacement, ranging from mild regurgitation with minimally displaced tricuspid leaflets to severe regurgitation with extreme displacement.

The atrialized portion of the right ventricle, although anatomically part of the right atrium, contracts and relaxes with the right ventricle. This discordant contraction leads to stagnation of blood in the right atrium. During ventricular systole, the atrialized part of the right ventricle contracts with the rest of the right ventricle, which causes a backward flow of blood into the right atrium, accentuating the effects of tricuspid regurgitation.

Frequency

United States

True prevalence is unknown because mild forms frequently are undiagnosed. Currently, with wide application of echocardiography, more cases are being diagnosed. Ebstein anomaly probably accounts for 0.5% of cases of congenital heart diseases.

Mortality/Morbidity

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.
  • 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.

Race

Ebstein anomaly is more common in children of white females.

Sex

No specific sex predominance exists.

Age

Ebstein anomaly can present at various stages of life.

  • Fetal life: Ebstein anomaly is usually diagnosed incidentally by echocardiography.
  • Neonatal life and infancy: Ebstein anomaly presents with cyanosis and/or severe heart failure; typically, symptoms present in infancy improve as pulmonary vascular resistance decreases.
  • Adult life: Ebstein anomaly presents with fatigue, exertional dyspnea, cyanosis, tricuspid regurgitation and/or right heart failure, and palpitations; arrhythmias are common.

Clinical

History

Patients can have a variety of symptoms related to the anatomical abnormalities of Ebstein anomaly and their hemodynamic effects or associated structural and conduction system disease.

  • Cyanosis
    • Fairly common and frequently due to right-to-left shunt at the atrial level and/or severe heart failure
    • Transient in neonatal life with recurrence in adult life
    • May appear for the first time in adult life
    • Transient appearance/worsening of cyanosis in adult life due to paroxysmal arrhythmias
    • Once apparent, progressively worsens
  • Fatigue and dyspnea: These are due to poor cardiac output secondary to right ventricular failure and decreased left ventricular ejection fraction.
  • Palpitations and sudden cardiac death
  • Symptoms of right heart failure: These include ankle edema and ascites.
  • Other less common presenting symptoms
    • Brain abscess due to right-to-left shunt
    • Bacterial endocarditis
    • Paradoxical embolism, stroke, and transient ischemic attacks

Physical

Physical findings, like the symptoms, span a spectrum from subtle to dramatic.

  • Cyanosis and clubbing - Varying degrees of cyanosis at various times in life and transient worsening with arrhythmias
  • Precordial asymmetry
    • Usually left parasternal prominence and occasionally right parasternal prominence
    • Absent left parasternal (ie, right ventricular) lift an important negative sign
  • Jugular venous pulse
    • May be normal owing to a large, thin-walled right atrium, which can absorb the volume and pressure transmitted from the right ventricle through an incompetent tricuspid valve
    • Large a and v waves late in the course of the disease, with development of right heart failure
  • Arterial pulses
    • Usually normal
    • Diminished volume late in the course of the disease due to severe right heart failure and decreased left ventricular stroke volume
  • Heart sounds
    • First heart sound is widely split with loud tricuspid component secondary to delayed closure of the elongated anterior tricuspid leaflet, which has an increased excursion. Mitral component may be soft or absent in the presence of prolonged PR interval.
    • Second heart sound usually is normal but may be widely split when the pulmonary component is delayed due to right bundle-branch block (RBBB).
  • Additional heart sounds and murmurs
    • Third and fourth heart sounds are commonly present, even in the absence of congestive heart failure (CHF). Summation of third and fourth heart sounds, especially with prolonged PR interval, can mimic an early diastolic murmur.
    • The holosystolic murmur of tricuspid regurgitation is heard maximally at the lower left parasternal area and sometimes at the apex owing to the displaced location of the tricuspid valve; murmur intensity and duration increase during inspiration.

Causes

  • Ebstein anomaly is a congenital disease of often uncertain cause.
  • Environmental factors implicated in etiology include the following:
    • Maternal ingestion of lithium in first trimester of pregnancy
    • Maternal benzodiazepine use
    • Maternal exposure to varnishing substances
    • Maternal history of previous fetal loss
  • Risk is higher in whites than in other races.

More on Ebstein Anomaly

Overview: Ebstein Anomaly
Differential Diagnoses & Workup: Ebstein Anomaly
Treatment & Medication: Ebstein Anomaly
Follow-up: Ebstein Anomaly
References

References

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  2. Armengol Rofes AJ, Serrano Durán M, Albert Brotons DC, Sánchez López C, Casaldáliga Ferrer J, Girona Comas JM. [Ebstein's anomaly of the tricuspid valve. Apropos 35 cases]. An Esp Pediatr. Feb 1996;44(2):139-44. [Medline].

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Further Reading

Keywords

Ebstein's anomaly, Ebstein disease, Wolff-Parkinson-White syndrome, WPW syndrome, congenital heart disease, tricuspid regurgitation, tricuspid valve displacement, lithium ingestion during pregnancy, maternal benzodiazepine use, maternal exposure to varnishing substances, right heart failure, supraventricular tachycardia, SVT, accessory conduction pathways, multiple pathways, bacterial endocarditis, subacute bacterial endocarditis, prophylaxis, SBE prophylaxis, Ebstein abnormality, bacterial endocarditis, sudden cardiac death

Contributor Information and Disclosures

Author

Kamran Riaz, MD, Clinical Assistant Professor, Department of Internal Medicine, Section of Cardiology, Wright State University School of Medicine
Kamran Riaz, MD is a member of the following medical societies: American College of Cardiology, American College of Physicians, American Medical Association, American Society of Echocardiography, Ohio State Medical Association, and Royal College of Physicians
Disclosure: Nothing to disclose.

Coauthor(s)

Alan D Forker, MD, Professor of Medicine, Program Director of Cardiovascular Fellowship, MidAmerica Heart Institute, University of Missouri at Kansas City School of Medicine; Director, Outpatient Lipid Diabetes Research Center, MidAmerica Heart Institute of Saint Luke's Hospital
Alan D Forker, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Cardiology, American College of Physicians, American Heart Association, American Medical Association, American Society of Hypertension, and Phi Beta Kappa
Disclosure: Research Grant Grant/research funds Hospital contracts to do research; I am a hospital employee with no personal profit; Speakers Bureau Honoraria Speaking and teaching

Medical Editor

Park W Willis IV, MD, Sarah Graham Distinguished Professor of Medicine and Pediatrics, University of North Carolina at Chapel Hill School of Medicine
Park W Willis IV, MD is a member of the following medical societies: American Society of Echocardiography
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Marschall S Runge, MD, PhD, Marion Covington Distinguished Professor of Medicine, Vice Dean for Clinical Affairs, Chairman, Department of Medicine, University of North Carolina at Chapel Hill School of Medicine
Marschall S Runge, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American College of Cardiology, American College of Physicians-American Society of Internal Medicine, American Federation for Clinical Research, American Federation for Medical Research, American Heart Association, American Physiological Society, American Society for Clinical Investigation, American Society for Investigative Pathology, Association of American Physicians, Association of Professors of Cardiology, Association of Professors of Medicine, Southern Society for Clinical Investigation, and Texas Medical Association
Disclosure: Nothing to disclose.

CME Editor

Amer Suleman, MD, Consultant in Electrophysiology and Cardiovascular Medicine, Department of Internal Medicine, Division of Cardiology, Medical City Dallas Hospital
Amer Suleman, MD is a member of the following medical societies: American College of Physicians, American Heart Association, American Institute of Stress, American Society of Hypertension, Federation of American Societies for Experimental Biology, Royal Society of Medicine, and Society of Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

Chief Editor

Park W Willis IV, MD, Sarah Graham Distinguished Professor of Medicine and Pediatrics, University of North Carolina at Chapel Hill School of Medicine
Park W Willis IV, MD is a member of the following medical societies: American Society of Echocardiography
Disclosure: Nothing to disclose.

 
 
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