Cardiovascular
Case TypeClinical Cases
Authors
Dr. Babatunde Ebenezer Osobu1, Prof. Dr. Christian Loewe2
Patient68 years, male
A 68-year-old male patient who presented with palpitation and dyspnea of a week duration.
The patient had chest x-ray with frontal and lateral views done which showed moderate cardiomegaly with biventricular preponderance. Ring-like calcific opacity is noted in the region of the mitral valve (Fig 1 – 2). A suspicion of Ebstein’s Anomaly was made.
Contrast-enhanced CT scan of the heart with axial and coronal views were performed which showed cardiomegaly with enlarged right atrium and ventricle. There is right ventricular myocardial hypertrophy with displacement of the septal and posterior leaflet of the tricuspid valve (white arrow) in the direction of the apex. Calcified mitral valve is also seen (Fig 3 – 4). A diagnosis of Ebstein’s Anomaly was made.
Ebstein’s anomaly is a rare congenital cardiac anomaly characterized by variable developmental anomaly of the tricuspid valve and right-sided cardiac chambers. It accounts for only 0.5% of congenital cardiac defects (1) and occurs in 1 in 210,000 live births (2). Although, it is the most common cause of congenital tricuspid regurgitation. No gender predilection. Most cases are sporadic but familiar Ebstein’s anomaly has been reported (3). It may also be seen in patients with Noonan syndrome and long term Lithium therapy (3).
In Ebstein’s anomaly a portion of the right ventricle lies between the normally located tricuspid valve annulus and the displaced tricuspid valve leaflets. This portion is referred to as the “atrialized” right ventricle while the remaining right ventricle distal to the displaced leaflets is known as the functional right ventricle (4).
The systemic venous return during a cardiac cycle flows from the right atrium into the atrialized right ventricle during atrial systole. In ventricular systole, some blood flows to the pulmonary trunk from the functional right ventricle but the blood within the atrialized right ventricle flows retrogradely into the true right atrium. Therefore, there is functional obstruction at the level of the tricuspid annulus. Pressure and volume overload at the atrial level may be relieved by an Atrial septal defect or a persistent foramen ovale (4).
Clinical manifestations depend on severity of the abnormality. It often presents during antenatal period with the development of Hydrops fetalis and fetal tachyarrythmias. In less severe cases, it may present at birth. The physiological closure of foramen ovale worsens the symptoms. An infant may present acutely in the neonatal period with tachypnea, difficulty in feeding and cyanosis. Older patients with less severity may present with dyspnea or palpitation. In some individuals, Ebstein’s anomaly is not diagnosed until the eight decades of life (5).
It can be associated with Right ventricular outflow tract abnormalities, Atrial septal defect (especially ostium secundum type), Ventricular septal defect and Tetralogy of Fallot.
Chest radiograph depends on the severity of the abnormality. There is often cardiomegaly with right-sided preponderance giving the “box shape”. There may be pulmonary oligemia. In some cases, chest radiograph finding is relatively nonspecific.
Although the diagnosis of Ebstein’s anomaly is based on Echocardiographic findings, Magnetic Resonance Imaging and Computed Tomography allow direct visualization of anatomic details.
Management depends upon the degree of impairment of cardiac function in the severely ill neonate, it is imperative to keep the Foramen ovale and the Ductus arteriosus patent. Surgery when required consists of Tricuspid valve replacement, placation of the atrialized right ventricle and closure of the defect in the atrial septum (4).
[1] Drose JA. Fetal Echocardiography. WB Saunders Co. (2009) ISBN: 1416056696. Google books
[2] Keith JD, Rose RD, Vlad P. Heart disease in infancy and children. New York. Macmillan Co. 1958:34.
[3] Moss AJ, Allen HD, Driscoll DJ et al. Moss and Adams’ Heart disease in infants, children and adolescents including the fetus and young adult. Lippincott Williams & Wilkins (2007) ISBN: 0781786843. Google books.
[4] Napier E, Paterson A. Ebstein’s anomaly. Eurorad. https://www.eurorad.org/case/1540. DOI:10.1594/Eurorad/case.1540. ISSN: 1563-4086. 26/06/2002.
[5] Allen MR, Hayes DL, Waines CA et al. Permanent pacing in Ebstein’s anomaly. Pacing Clin Electrophysiol. 1997, May. 20(5pt1): 1243-6 (Medline)
URL: | https://www.eurorad.org/case/16850 |
DOI: | 10.35100/eurorad/case.16850 |
ISSN: | 1563-4086 |
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