Ebstein's Anomaly: A Case Report

    Authors

    Abstract

    Ebstein’s anomaly is a rare congenital heart defect of the tricuspid valve and the right ventricle that presents at different ages and with different symptoms, depending on the anatomical variant and the severity of the tricuspid regurgitation. We report two cases of Ebstein’s anomaly discovered at an adult age when the patients presented with symptoms of heart failure. In both cases, echocardiography verified apical displacement of the tricuspid valve, severe tricuspid valve regurgitation, and significant dilatation of the right side of the heart. Since the patients remained symptomatic despite medication therapy, surgical correction of the tricuspid valve with bioprosthetic valve implantation was performed. At follow-up after 6 months, both patients showed significantly improved functional status.

    Keywords

    Ebstein's anomaly, congenital heart defects

    DOI

    https://doi.org/10.15836/ccar2016.66

    Full Text

    Ebstein's anomaly is a malformation of the tricuspid valve and the right ventricle. There is a wide variation of abnormalities that include: 1) failure of delamination of the tricuspid valve; 2) apical and backward displacement of the functional tricuspid junction (septal>back>forward); 3) dilation of the “atrialized” part of the right ventricle with different levels of hypertrophy and thinning of the wall; 4) fenestration, redundancy, and tension of the anterior cusp; 5) dilation of the true atrioventricular junction. The incidence of this disease is about 1: 200,000 newborns and makes for less than 1% of all congenital heart disease. It often appears in conjunction with other heart defects such as for instance open foramen ovale, atrial septal defect (ASD), ventricular septal defect, or one or more accessory conduction pathways. The clinical picture depends on the amount of apical displacement and the function of the tricuspid valve, and the most common symptoms in adolescents and adults are fatigue, poor exertion tolerance, dyspnea on exertion, cyanosis, palpitations, and paroxysmal atrial arrhythmia. Auscultation often shows a wide splitting of S1 and S2 sound, sometimes with audible ventricle-filling sounds (S3 and S4) as well as the systolic murmur of tricuspid regurgitation. Using a 12-channel electrocardiogram often shows an incomplete right bundle branch block and occasionally preexcitation as well as supraventricular tachycardia and atrial fibrillation. Radiologically, the heart image can vary between nearly normal to the image typical for Ebstein’s anomaly of an enlarged ball-like heart due to the dilation of the right atrium. Echocardiography allows precise assessment of the tricuspid valve and the subvalvular apparatus (the amount of apical displacement, dysplasia, cusp absence), the size of the right atrium and the atrialized part of the right ventricle, and the function of the right and left ventricles. The main echocardiographic characteristic in comparison with other diseases of the tricuspid valve is the apical displacement of the septal cusp >0.8 cm/m2 of total body surface area. Today, magnetic resonance imaging is being used increasingly commonly in the assessment of the size and function of the ventricles. Catheterization is generally not necessary since the pressure in the pulmonary artery is usually normal. Medication (diuretics, angiotensin-converting-enzyme (ACE) inhibitors, antiarrhythmic agents) and percutaneous interventions (cardiac ablation, ASD closure) lead to improvement, but once symptoms have appeared – reduction in functional capacity (New York Heart Association (NYHA) class III or IV) and/or progression of the dilation of the right ventricle – surgical repair or replacement of the valve is the only chance of improvement. If possible, valve repair is the method of choice. In case of unsuitable anatomy and/or advanced age, a bioprosthetic replacement is a good option. The same procedure must also repair associated heart anomalies and possibly include antiarrhythmic procedures (MAZE), plication of atrialized part of the right ventricle, or reduction of the right atrium. Heart transplants are indicated only rarely, usually in patients with significant biventricular failure. Postoperative prognosis is good, and more than 90% of patients survive for more than 10 years. Regular annual follow-up is needed because of possible residual tricuspid regurgitation, appearance of arrhythmia, and symptoms of heart failure. (1, 2) Ebstein’s anomaly in adult patients is usually treated conservatively using medication (ACE inhibitors, diuretics, antiarrhythmic agents). However, in cases of severe tricuspid valve insufficiency and significant dilation of the right ventricle, the clinical picture does not improve sufficiently under conservative treatment. In these cases surgical correction (repair or replacement of the valve) can lead to significant clinical improvement. This was confirmed in all 5 patients with Ebstein’s anomaly that underwent surgical bioprosthetic valve implantation during 2015 in our institution. We report two cases below. ## Case 1 This patient was a 40-year-old man, treated for hypothyroidism. He was treated for cardiac decompensation and rapid atrial fibrillation twice, in 2000 and 2002. Echocardiographic imaging was performed during his second hospital stay, and the diagnosis of Ebstein’s anomaly was established. The patient did not have significant issues under medication treatment and did not attend cardiologic follow-up until October 2014. It was then that echocardiography verified significant dilation of the right ventricle and atrium and moderate tricuspid regurgitation. In January 2015, the patient was hospitalized for further cardiologic assessment. He was treated with bisoprolol 2.5 mg, furosemide 40 mg, levothyroxine 75 mcg, and warfarin. The patient had compensated heart failure, was with a NYHA class II-III, and had permanent atrial fibrillation with well-regulated heart rate. Heart frequency was 40-150/min as established by 24-hour continuous electrocardiogram monitoring, with an average of 75/min. Echocardiographic imaging (Figure 1) verified tricuspid valve abnormality with very pronounced apical displacement of the septal cusp and a large anterior “sail-like” cusp attached to the presumed place of the tricuspid ring. Consequently, “atrialization” of the right ventricle had occurred, the cavum was small, and there was severe tricuspid regurgitation with volume overload to the right side of the heart, but with no signs of pulmonary hypertension. The left ventricle was compressed by the right side of the heart, with borderline systolic function. There were no other significant valve defects. Figure 1. Apical four chamber view – dilated right ventricle with apical displacement of the functional tricuspid annulus (arrow), small functional right ventricle and large dilated “atrializied” portion of the right ventricle. RA = right atrium; RV = right ventricle; LA = left atrium; LV = left ventricle. The diagnosis of coronary heart disease was elxcluded by coronarography. The patient underwent a surgical procedure mid-March in 2015. Valve repair was not possible due to an unsuitable anatomical configuration, so a bioprosthetic valve was implanted: Carpentier Edwards Perimount M 33 mm. The procedure and recovery was without complications. Later follow-up examinations indicated clinical improvement. The patient was without subjective issues, now NYHA class I-II. Echocardiography (Figure 2) showed normal function of the tricuspid bioprosthesis with a mean diastolic pressure gradient (PG) of 3 mmHg and very mild central regurgitation. The prosthesis itself was implanted in a somewhat more basal location towards the right atrium to avoid damage to the atrioventricular node. The previously atrialized part of the right ventricle had now taken the function of the right ventricle that was somewhat less dilated, but the free wall continued to be hypocontractile. According to the pulmonary acceleration time there were no signs of pulmonary hypertension. Figure 2. Apical four chamber view – bioprosthetic tricuspid valve placed in position of anatomic tricuspid annulus, lesser degree of right ventricle dilatation; arrow shows native tricuspid valve. RA = right atrium; RV = right ventricle; LA = left atrium; LV = left ventricle. ## Case 2 A female patient, 57 years of age, was diagnosed in 1995 with Ebstein’s anomaly and ASD secundum with a left-to-right shunt and a pulmonary to systemic flow ratio of 1.3:1. Since the patient was stable, no surgical procedure was performed. The patient was without subjective issues and did not attend cardiologic follow-up until 2011, when she was hospitalized for cardiac decompensation. Medication treatment led to clinical improvement, but significant dilation of the right side of the heart led to the conclusion that this was the final phase of Ebstein’s anomaly that was no longer operable. Once more, the patient did not attend cardiologic follow-up. Subjectively, she reported deterioration starting in 2013 with increasingly poor exertion tolerance. In late 2014, ergometric stress testing was performed which demonstrated the load of 4.3 MET, with subjective presence of intensive fatigue and shortness of breath. Due to clinical deterioration, the patient was referred to our Clinic for cardiologic reevaluation. At admission, she had compensated heart hailure. According to anamnesis, deterioration had happened two years ago, and over the last months the patient had been in the NYHA III functional class with dyspnea even during minimal exertion. She was treated with bisoprolol 1.25 mg, digoxin 0.1 mg, furosemide 80+40 mg, pantoprazole 20 mg, and warfarin. She had permanent atrial fibrillation with poorly regulated heart rate, at rest 100 beats/min. Radiological examination established a significantly enlarged heart shape, without pleural effusion or acute failure changes. Echocardiographic imaging (Figure 3) found severe dilation on the right side of the heart (annulus TV 8 cm) with 2 cm apical displacement of the septal cusp of the tricuspid valve in relation to the mitral valve and consequent atrialization of the right ventricle. There was non coaptation of the cusps and massive tricuspid regurgitation. The right ventricle was dilated and the systolic function was reduced (TAPSE 12 mm). The left ventricle was normal in size and function. There were no indications of aortic coarctation, nor did transthoracic electrocardiography find sure signs of an open foramen ovale. Figure 3. Apical four chamber view (modified view of the right ventricle), dilated right ventricle with apical displacement of the functional tricuspid annulus (arrow); failure of tricuspid leaflet coaptation. RA = right atrium; RV = right ventricle; TV = tricuspid valve; LV = left ventricle. Coronarography was used to exclude coronary heart disease, and coronary catheterization found normal pressure values in the pulmonary artery, with no signs of a left-to-right shunt. The patient was moved to the Cardiac Surgery Clinic and several days later prosthetic valve replacement was performed with implantation of Medtronic Hancock Valve 33 mm bioprosthesis at the tricuspid annulus position and surgical reduction of the right atrium. One follow-up examination has been performed so far. Subjectively, the patient does not suffer from any issues or limitations in everyday activities. Echocardiography (Figure 4) shows normal function of the tricuspid bioprosthesis with somewhat improved function of the dilated right ventricle. Figure 4. Apical four chamber view (modified view of the right ventricle) - bioprosthetic tricuspid valve placed in position of anatomic tricuspid annulus, lesser degree of right ventricle dilatation, reduced size of right atrium. RA = right atrium; RV = right ventricle; LV = left ventricle.

    Literature

    1. Gatzoulis MA, Webb GD, Daubeney PEF. Diagnosis and Management of Adult Congenital Heart Disease. 2nd Ed. Philadelphia: Elsevier Saunders; 2011, pp. 288-93.
    2. UpToDate [Internet]. Ebstein’s anomaly of the tricuspid valve. [cited 2015 Nov 26]. http://www.uptodate.com/contents/ebsteins-anomaly-of-the-tricuspid-valve?source=search_result&search=ebstein&selectedTitle=1%7E51
    Cardiologia Croatica
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    Ebstein's Anomaly: A Case Report

    Case Report
    Issue1-2
    Published
    Pages66-70
    PDF via DOIhttps://doi.org/10.15836/ccar2016.66
    Ebstein's anomaly
    congenital heart defects

    Authors

    Dejan Došen*ORCIDUniversity of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Croatia
    Maja StrozziORCIDUniversity of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Croatia
    Darko AnićORCIDUniversity of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Croatia

    *Correspondence email: dejan.dosen@yahoo.com

    Abstract

    Ebstein’s anomaly is a rare congenital heart defect of the tricuspid valve and the right ventricle that presents at different ages and with different symptoms, depending on the anatomical variant and the severity of the tricuspid regurgitation. We report two cases of Ebstein’s anomaly discovered at an adult age when the patients presented with symptoms of heart failure. In both cases, echocardiography verified apical displacement of the tricuspid valve, severe tricuspid valve regurgitation, and significant dilatation of the right side of the heart. Since the patients remained symptomatic despite medication therapy, surgical correction of the tricuspid valve with bioprosthetic valve implantation was performed. At follow-up after 6 months, both patients showed significantly improved functional status.

    Full Text

    Ebstein's anomaly is a malformation of the tricuspid valve and the right ventricle. There is a wide variation of abnormalities that include: 1) failure of delamination of the tricuspid valve; 2) apical and backward displacement of the functional tricuspid junction (septal>back>forward); 3) dilation of the “atrialized” part of the right ventricle with different levels of hypertrophy and thinning of the wall; 4) fenestration, redundancy, and tension of the anterior cusp; 5) dilation of the true atrioventricular junction.

    The incidence of this disease is about 1: 200,000 newborns and makes for less than 1% of all congenital heart disease. It often appears in conjunction with other heart defects such as for instance open foramen ovale, atrial septal defect (ASD), ventricular septal defect, or one or more accessory conduction pathways.

    The clinical picture depends on the amount of apical displacement and the function of the tricuspid valve, and the most common symptoms in adolescents and adults are fatigue, poor exertion tolerance, dyspnea on exertion, cyanosis, palpitations, and paroxysmal atrial arrhythmia.

    Auscultation often shows a wide splitting of S1 and S2 sound, sometimes with audible ventricle-filling sounds (S3 and S4) as well as the systolic murmur of tricuspid regurgitation.

    Using a 12-channel electrocardiogram often shows an incomplete right bundle branch block and occasionally preexcitation as well as supraventricular tachycardia and atrial fibrillation.

    Radiologically, the heart image can vary between nearly normal to the image typical for Ebstein’s anomaly of an enlarged ball-like heart due to the dilation of the right atrium.

    Echocardiography allows precise assessment of the tricuspid valve and the subvalvular apparatus (the amount of apical displacement, dysplasia, cusp absence), the size of the right atrium and the atrialized part of the right ventricle, and the function of the right and left ventricles. The main echocardiographic characteristic in comparison with other diseases of the tricuspid valve is the apical displacement of the septal cusp >0.8 cm/m2 of total body surface area.

    Today, magnetic resonance imaging is being used increasingly commonly in the assessment of the size and function of the ventricles.

    Catheterization is generally not necessary since the pressure in the pulmonary artery is usually normal.

    Medication (diuretics, angiotensin-converting-enzyme (ACE) inhibitors, antiarrhythmic agents) and percutaneous interventions (cardiac ablation, ASD closure) lead to improvement, but once symptoms have appeared – reduction in functional capacity (New York Heart Association (NYHA) class III or IV) and/or progression of the dilation of the right ventricle – surgical repair or replacement of the valve is the only chance of improvement.

    If possible, valve repair is the method of choice. In case of unsuitable anatomy and/or advanced age, a bioprosthetic replacement is a good option. The same procedure must also repair associated heart anomalies and possibly include antiarrhythmic procedures (MAZE), plication of atrialized part of the right ventricle, or reduction of the right atrium. Heart transplants are indicated only rarely, usually in patients with significant biventricular failure.

    Postoperative prognosis is good, and more than 90% of patients survive for more than 10 years. Regular annual follow-up is needed because of possible residual tricuspid regurgitation, appearance of arrhythmia, and symptoms of heart failure. (1, 2)

    Ebstein’s anomaly in adult patients is usually treated conservatively using medication (ACE inhibitors, diuretics, antiarrhythmic agents). However, in cases of severe tricuspid valve insufficiency and significant dilation of the right ventricle, the clinical picture does not improve sufficiently under conservative treatment. In these cases surgical correction (repair or replacement of the valve) can lead to significant clinical improvement. This was confirmed in all 5 patients with Ebstein’s anomaly that underwent surgical bioprosthetic valve implantation during 2015 in our institution. We report two cases below.

    Case 1

    This patient was a 40-year-old man, treated for hypothyroidism. He was treated for cardiac decompensation and rapid atrial fibrillation twice, in 2000 and 2002. Echocardiographic imaging was performed during his second hospital stay, and the diagnosis of Ebstein’s anomaly was established. The patient did not have significant issues under medication treatment and did not attend cardiologic follow-up until October 2014. It was then that echocardiography verified significant dilation of the right ventricle and atrium and moderate tricuspid regurgitation.

    In January 2015, the patient was hospitalized for further cardiologic assessment. He was treated with bisoprolol 2.5 mg, furosemide 40 mg, levothyroxine 75 mcg, and warfarin. The patient had compensated heart failure, was with a NYHA class II-III, and had permanent atrial fibrillation with well-regulated heart rate. Heart frequency was 40-150/min as established by 24-hour continuous electrocardiogram monitoring, with an average of 75/min.

    Echocardiographic imaging (Figure 1) verified tricuspid valve abnormality with very pronounced apical displacement of the septal cusp and a large anterior “sail-like” cusp attached to the presumed place of the tricuspid ring. Consequently, “atrialization” of the right ventricle had occurred, the cavum was small, and there was severe tricuspid regurgitation with volume overload to the right side of the heart, but with no signs of pulmonary hypertension. The left ventricle was compressed by the right side of the heart, with borderline systolic function. There were no other significant valve defects.

    Figure 1. Apical four chamber view – dilated right ventricle with apical displacement of the functional tricuspid annulus (arrow), small functional right ventricle and large dilated “atrializied” portion of the right ventricle. RA = right atrium; RV = right ventricle; LA = left atrium; LV = left ventricle.

    The diagnosis of coronary heart disease was elxcluded by coronarography. The patient underwent a surgical procedure mid-March in 2015. Valve repair was not possible due to an unsuitable anatomical configuration, so a bioprosthetic valve was implanted: Carpentier Edwards Perimount M 33 mm. The procedure and recovery was without complications.

    Later follow-up examinations indicated clinical improvement. The patient was without subjective issues, now NYHA class I-II. Echocardiography (Figure 2) showed normal function of the tricuspid bioprosthesis with a mean diastolic pressure gradient (PG) of 3 mmHg and very mild central regurgitation. The prosthesis itself was implanted in a somewhat more basal location towards the right atrium to avoid damage to the atrioventricular node. The previously atrialized part of the right ventricle had now taken the function of the right ventricle that was somewhat less dilated, but the free wall continued to be hypocontractile. According to the pulmonary acceleration time there were no signs of pulmonary hypertension.

    Figure 2. Apical four chamber view – bioprosthetic tricuspid valve placed in position of anatomic tricuspid annulus, lesser degree of right ventricle dilatation; arrow shows native tricuspid valve. RA = right atrium; RV = right ventricle; LA = left atrium; LV = left ventricle.

    Case 2

    A female patient, 57 years of age, was diagnosed in 1995 with Ebstein’s anomaly and ASD secundum with a left-to-right shunt and a pulmonary to systemic flow ratio of 1.3:1. Since the patient was stable, no surgical procedure was performed.

    The patient was without subjective issues and did not attend cardiologic follow-up until 2011, when she was hospitalized for cardiac decompensation. Medication treatment led to clinical improvement, but significant dilation of the right side of the heart led to the conclusion that this was the final phase of Ebstein’s anomaly that was no longer operable. Once more, the patient did not attend cardiologic follow-up. Subjectively, she reported deterioration starting in 2013 with increasingly poor exertion tolerance. In late 2014, ergometric stress testing was performed which demonstrated the load of 4.3 MET, with subjective presence of intensive fatigue and shortness of breath. Due to clinical deterioration, the patient was referred to our Clinic for cardiologic reevaluation.

    At admission, she had compensated heart hailure. According to anamnesis, deterioration had happened two years ago, and over the last months the patient had been in the NYHA III functional class with dyspnea even during minimal exertion. She was treated with bisoprolol 1.25 mg, digoxin 0.1 mg, furosemide 80+40 mg, pantoprazole 20 mg, and warfarin. She had permanent atrial fibrillation with poorly regulated heart rate, at rest 100 beats/min. Radiological examination established a significantly enlarged heart shape, without pleural effusion or acute failure changes. Echocardiographic imaging (Figure 3) found severe dilation on the right side of the heart (annulus TV 8 cm) with 2 cm apical displacement of the septal cusp of the tricuspid valve in relation to the mitral valve and consequent atrialization of the right ventricle. There was non coaptation of the cusps and massive tricuspid regurgitation. The right ventricle was dilated and the systolic function was reduced (TAPSE 12 mm). The left ventricle was normal in size and function. There were no indications of aortic coarctation, nor did transthoracic electrocardiography find sure signs of an open foramen ovale.

    Figure 3. Apical four chamber view (modified view of the right ventricle), dilated right ventricle with apical displacement of the functional tricuspid annulus (arrow); failure of tricuspid leaflet coaptation. RA = right atrium; RV = right ventricle; TV = tricuspid valve; LV = left ventricle.

    Coronarography was used to exclude coronary heart disease, and coronary catheterization found normal pressure values in the pulmonary artery, with no signs of a left-to-right shunt.

    The patient was moved to the Cardiac Surgery Clinic and several days later prosthetic valve replacement was performed with implantation of Medtronic Hancock Valve 33 mm bioprosthesis at the tricuspid annulus position and surgical reduction of the right atrium. One follow-up examination has been performed so far. Subjectively, the patient does not suffer from any issues or limitations in everyday activities. Echocardiography (Figure 4) shows normal function of the tricuspid bioprosthesis with somewhat improved function of the dilated right ventricle.

    Figure 4. Apical four chamber view (modified view of the right ventricle) - bioprosthetic tricuspid valve placed in position of anatomic tricuspid annulus, lesser degree of right ventricle dilatation, reduced size of right atrium. RA = right atrium; RV = right ventricle; LV = left ventricle.

    Literature

    1. 1.
      Gatzoulis MA, Webb GD, Daubeney PEF. Diagnosis and Management of Adult Congenital Heart Disease. 2nd Ed. Philadelphia: Elsevier Saunders; 2011, pp. 288-93.
    2. 2.
      UpToDate [Internet]. Ebstein’s anomaly of the tricuspid valve. [cited 2015 Nov 26].Link