Ebstein Anomaly with baggage: A Case Report
Garly R. Saint Croix, MD; Michel Ibrahim, MD
AFFILLIATIONS: Columbia University Division of Cardiology at Mount Sinai Medical Center, Boston University Division of Cardiology
Introduction: Ebstein’s anomaly is a congenital heart defect that affects 1 in 20,000 births. Several studies have proposed this anomaly can be related to genetic, reproductive, and environmental factors (6). The primary defect involves the tricuspid valve of the heart; the valve leaflets can be abnormally shaped, too large, or attached to the myocardium (5). The apically displaced heart valve atrializes the right ventricle resulting in backwards flow of blood. This disease has been associated with several other cardiac anomalies including atrial septal defect, ventricular septal, patent foramen ovale, and accessory conduction pathways. The manifestation of Ebstein’s anomaly varies depending on the severity of the defect. Clinical presentation can include cyanosis, congestive heart failure, right-heart failure, cardiac arrhythmias, and cardiac arrest. We present a case of Ebstein anomaly with an unusual presentation and with several concomitant cardiac issues.
Case report: This is a 31-year-old male with a past medical history of diagnosed Ebstein’s anomaly, heart failure with reduced ejection fraction (25-30%), Wolf Parkinson White syndrome, Paroxysmal Atrial Fibrillation with radiofrequency ablation, Severe Functional Tricuspid Regurgitation and Moderate Mitral Regurgitation (MR) who presented to the hospital because of right leg weakness and vomiting that suddenly started 3 hours prior to admission. His vitals were within normal limits and he had a 3/6 systolic ejection murmur at his left lower sternal border and +1 pitting edema. Stroke alert was called, and an initial CT brain and CTA angiogram were negative. However, a MRI of the brain confirmed an acute infarction of his left corona radiata which was managed with fibrinolytics with complete resolution of his symptoms. Patient underwent a transthoracic echocardiography that showed an ejection fraction of 20-25%
severely dilated right ventricle, with mildly to moderately impaired systolic function. Apical displacement of the septal leaflet of the tricuspid valve > 8mm/m2 and severe tricuspid regurgitation. The RVSP is estimated to be at least 40 mmHg (underestimated in significant TR) and there was the appearance of a D-shaped interventricular septum during systole and diastole consistent with RV pressure and volume overload. Patient was subsequent was subsequently managed with IV anti-emetics and protonix drip with improvement of his clinical picture. Given patient’s echo findings were unchanged and his heart failure was compensated, he was successfully discharged 3 days after his admission with close follow up with his cardiac congenital clinic.
There is variability in the clinical picture of Ebstein’s anomaly but for the most part, there are cyanosis, right-sided heart failure and arrhythmia. While cyanosis and right-sided heart failure are more common in pediatric population presentation with arrhythmia it is more common in adults (1). In the era of cardiovascular intervention, the survival of Ebstein’s anomaly has increased but still <50% of patients survive beyond 10 years (2). ECG is often abnormal in Ebstein’s anomaly and shows tall and broad P wave, complete or incomplete right bundle branch block, bizarre terminal QRS complexes and atrial fibrillation. In our patient the only obvious ECG abnormality was a relative low voltage complex (in precordial and limb leads) and very tall P wave in the precordial leads. Chest radiography of Ebstein’s anomaly usually shows a globe-shaped heart with a narrow waist that closely resembles massive pericardial effusion. In our case both conditions coexisted (3). Echocardiography is the diagnostic test of choice in such patients and it readily establishes the diagnosis. In the present case an inconspicuous RV with huge right atrium and high-pressure tricuspid regurgitation confirmed the diagnosis (4). In our case, patient had severe functional tricuspid regurgitation and moderate mitral regurgitation from the prior left to right shunt from the ASD he had. Finally, his right ventricular failure led to left ventricular failure with subsequent atrial enlargement which have led to dysphagia and vomiting from possible Ortner syndrome. The development of dysphagia and nausea suggests a compressive effect of the enlarged endocardium on its surrounding structures.
This case demonstrates a rather unique presentation of Ebstein’s anomaly along with the potential GI (nausea and vomiting) and neurological (acute stroke) complications that may accompany it. This patient presented with severe right ventricular enlargement and tricuspid regurgitation. Subsequent RV failure led to LV failure creating a volume overload of the left ventricle. An appropriate history, physical exam and essential imaging are crucial for the recognition of the different clinical scenarios and complications of Ebstein anomaly.
1- McElhinney DB, Salvin JW, Colan SD et al. . Improving outcomes in fetuses and neonates with congenital displacement (Ebstein’s malformation) or dysplasia of the tricuspid valve. Am J Cardiol 2005;96:582–6. 10.1016/j.amjcard.2005.04.024
2- Llamas-Esperón G, Alemán-Villalobos R, Zamora-Muciño A et al. . Ebstein’s anomaly related with significant pericardial effusion. Report and analysis of a case. Gac Med Mex 1998;134:479–86.
3- B. Moradi and F. Roshanali, “Complex Ebstein’s anomaly in an 86-year-old Iranian man: a case report,” Journal of Tehran University Heart Center, vol. 12, no. 1, pp. 39–41, 2017
4- K. R. E. Santo, V. Franceschi, A. C. B. Campos et al., “Pacemaker endocarditis caused by Propionibacterium acnes in an adult patient with Ebstein’s anomaly: a report of a rare case,” Heart, Lung and Circulation, vol. 23, no. 10, pp. e222–e225, 2014.
5- Attenhofer Jost, Connolly, Dearani, Edwards, and Danielson. (2007, January 16). Ebstein’s Anomaly. Circulation AHA. https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.106.619338
6- Ebstein’s Anomaly for Adults: Symptoms & Treatments. (2019). Retrieved October 19, 2020, from https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults