Case Report

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anomaly is characterised by significant apical displacement of the tricuspid valve. It is very .... incomplete right bundle branch block and QTc of 455 ms (Fig. 3).
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CARDIOVASCULAR JOURNAL OF AFRICA • Advance Online Publication, September 2013

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Case Report Ebstein’s anomaly and Down’s syndrome LUNGILE PEPETA, SALLY-ANN CLUR

Abstract We report on two cases presenting with a rare combination of Ebstein’s anomaly and Down’s syndrome. The first patient presented with respiratory distress, mild cyanosis and right heart failure immediately after delivery. The symptoms improved with heart failure medication. The patient remained asymptomatic on follow up. The second patient was diagnosed antenatally with marked apical displacement of the tricuspid valve and a very small functional right ventricle compared to the left ventricle. At birth, the patient presented with an extreme form of Ebstein’s anomaly with severe cyanosis, marked right heart failure and ductal-dependent pulmonary blood flow. The patient died within days of birth. Keywords: Ebstein’s anomaly, Down’s syndrome, prenatal and postnatal diagnosis, right heart failure Submitted 21/8/11, accepted 14/8/13 Cardiovasc J Afr 2013; 24: online publication

www.cvja.co.za

DOI: 10.5830/CVJA-2013-054

Ebstein’s anomaly was first described by Wilhelm Ebstein in 1866, in an autopsy report of a 19-year-old patient who had presented with cyanosis and right heart failure.1,2 Ebstein’s anomaly is characterised by significant apical displacement of the tricuspid valve. It is very rare, with an incidence of 1:20 000 live births, and accounts for less than 1% of all congenital heart defects.3 The time of clinical presentation may range from foetal life to late adulthood, depending on the extent of the tricuspid valve displacement, size and function of the right ventricle, right atrial size and degree of right-to-left shunting.4 By contrast, Down’s syndrome, first described by Seguin and Down in 1846 and 1866, respectively,5 is fairly common. Congenital cardiac lesions occur in 40 to 50% of these patients and include atrioventricular septal defects, atrial septal defects, ventricular septal defects, patent ductus arteriosus and tetralogy of Fallot.6 We present two cases of a very rare combination of Ebstein’s anomaly and Down’s syndrome.

Case reports Case 1 The patient was a female infant delivered at 33 weeks’ gestation, with a birth weight of 1 980 g and Apgar scores of 6 at one minute, 9 at five minutes and 9 at 10 minutes. She had the phenotypic features of Down’s syndrome and had respiratory distress with cyanosis. The oxygen saturations were 85% on room air and 98% on nasal prongs oxygen at 2 l/min. Her temperature was 38.8°C. The pulse rate was 170 beats per min (bpm). The blood pressure was normal. A 3/6 holosystolic murmur over the left lower parasternal boarder was noted. The liver was enlarged at 4 cm below the costal margin. The chest X-ray showed cardiomegaly with a cardiothoracic ratio of 65%, oligemic lung fields, features of right atrial and right ventricular enlargement, left aortic arch and situs solitus. The ECG showed a sinus rhythm with a rate of 165 bpm, PR interval of 100 ms and QRS axis of –40 degrees. There were tall R waves in V1 of 15 mm and deep Q waves in aVR, V1 and V2, features which were suggestive of right ventricular hypertrophy with strain. Echocardiography revealed a dilated right side of the heart (Fig. 1). The septal leaflet of the tricuspid valve was apically displaced at 7.8 mm below the anterior leaflet of the mitral valve and was redundant. This displacement when indexed for body surface area was significant at 49 mm/m2. Moderate tricuspid regurgitation was seen on colour flow Doppler. However, no tricuspid valve stenosis or right ventricular outflow tract obstruction was seen. The foramen ovale and ductus arteriosus were closed. No other cardiac abnormalities were detectable.

Dora Nginza Hospital, Port Elizabeth Hospital Complex, Port Elizabeth, South Africa LUNGILE PEPETA, FCPaed (SA), Cert.Cardiology (SA), MMed (Wits), [email protected]

Department of Paediatric Cardiology, Emma Children’s Hospital, Academic Medical Centre (AMC) and Centre for Congenital Heart Anomalies Amsterdam-Leiden (CAHAL), The Netherlands SALLY-ANN CLUR, MB BCh, MSc (Med), FCP (SA) (Paed), PhD

Fig. 1. Two-dimensional echocardiogram in the fourchamber view of case 1, showing Ebstein’s anomaly with right atrial dilatation (RA) and apical displacement of the septal leaflet of the tricuspid valve (arrow), leading to atrialisation of the right ventricle (aRV). RV, right ventricle; LA, left atrium; LV, left ventricle.

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CARDIOVASCULAR JOURNAL OF AFRICA • Advance Online Publication, September 2013

Fig. 2. Roentgenogram of case 2 showing a ‘wall-to-wall’ heart due to right atrial dilatation.

Chromosomal analysis confirmed Down’s syndrome (47, XX, +21). Elevated C-reactive protein suggested possible neonatal sepsis that was later confirmed on blood culture, as this was positive for Acinetobacter baumannii species, which was sensitive to Carbapenems. Sepsis was successfully treated with Meropenem following unsuccessful empirical antibiotic therapy. Heart failure therapy (digoxin, furosemide) and potassium supplements were added. C-reactive protein levels later normalised, she was weaned off oxygen and the heart failure treatment was stopped on follow up at the age of six months. She was thriving well off anti-failure medication with just mild tricuspid regurgitation at the last follow up at three years of age.

Case 2 A 38-year-old female, gravida 11, para 4, presented at the prenatal diagnosis unit 17 + 3 weeks pregnant. She had two live babies but had also suffered two ectopic pregnancies, two spontaneous miscarriages, two pregnancy terminations before 16 weeks’ gestation and two intrauterine deaths. An amniocentesis revealed a male foetus with Down’s syndrome (47, XY, +21). In view of her poor obstetric history and strong wish for another child, the couple decided to continue with the pregnancy.

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A foetal echocardiogram performed at 32 weeks’ gestation showed situs solitus, levocardia with atrioventricular concordance, and normal pulmonary and systemic venous return. The right atrium was dilated and the right ventricle was smaller than the left ventricle due to a very apically displaced coaption point of an abnormal tricuspid valve, consistent with Ebstein’s anomaly. There was severe tricuspid regurgitation with a velocity of 3.4 m/s, giving an estimated right ventricular pressure of 46 mmHg + right atrial pressure. A male infant was born by normal vaginal delivery at gestational age of 36 + 6 weeks. His birth weight was 2 840 g and Apgar scores were recorded as 8 at one minute and 9 at five minutes. The baby was cyanotic on room air with oxygen saturations of 60% that went up to 75% with the administration of 100% oxygen. Further examination revealed features of Down’s syndrome and severe respiratory distress. There were scattered pulmonary rhonchi and a 4/6 holosystolic murmur was heard in the 4th intercostal space, left parasternal border. The chest X-ray showed a ‘wall-to-wall’ heart such that it was not possible to comment on pulmonary vascularity (Fig. 2). The ECG revealed sinus rhythm with a rate of 126 bpm, QRS axis of +120, P axis of +45, PR interval of 120 ms, P pulmonale, incomplete right bundle branch block and QTc of 455 ms (Fig. 3). The echocardiogram showed severe Ebstein’s anomaly with functional pulmonary atresia, large right-to-left shunting at the atrial level and ductal-dependent pulmonary circulation. In light of the baby’s poor prognosis it was decided after consultation with the parents to withdraw further active management and the baby died 38 hours after birth.

Discussion We present two cases of Ebstein’s anomaly in babies with Down’s syndrome, which illustrate a less severe and an extreme form of this cardiac defect, respectively. Ebstein’s anomaly is defined as more than 0.8 cm/m2 apical displacement of the septal leaflet of the tricuspid valve.7 This may be associated with adherence of both the septal and posterior leaflets of the tricuspid valve to the myocardium, downward displacement of the functional annulus, dilatation of the ‘atrialised’ right ventricle, redundancy, fenestrations, tethering of the anterior leaflet, and dilatation of the true tricuspid valve annulus.8 In Ebstein’s anomaly, there is a failure of delamination of the inner layers of the inlet zone of the ventricles, the mechanism of which is not well understood.9 The clinical presentation varies

Fig. 3. ECG of case 2 showing the P pulmonale of right atrial enlargement and incomplete right bundle branch block, often seen in Ebstein’s anomaly.

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CARDIOVASCULAR JOURNAL OF AFRICA • Advance Online Publication, September 2013

TABLE 1. SUMMARY OF KNOWN CASES OF DOWN’S SYNDROME WITH EBSTEIN’S ANOMALY Case number

Diagnosis

Presentation

Karyotype

1. Bauk, et al.5

Cardiac examination

20 years old, syncope

Clinical diagnosis

2. Johnson, et al.11

Autopsy

Fatal pneumonia

Not specified

Conclusion We report on two very rare cases of Ebstein’s anomaly with Down’s syndrome. It is possible that patients with Ebstein’s anomaly and Down’s syndrome have extreme endocardial cushion abnormalities, so that some of them die in utero. There is a need for routine screening for cardiac lesions, followed by foetal echocardiography for early detection of such abnormalities so that appropriate therapy can be commenced, as indicated.

3. Venturini, et al.12 Routine cardiac 55 years old, examination asymptomatic

Clinical diagnosis

4. Silvia, et al.13

Foetal echocardiography

After amniocentesis

Clinical diagnosis

5. Leite, et al.14

Foetal echocardiography

Suspected cardiac defect Not specified (hypoplastic left ventricle)

6. Cyrus, et al.15

Cardiac examination

Dysmorphic 8-month-old with failure to thrive

+21; 21

1.

Newborn with cardiomegaly

Clinical diagnosis

2.

7. Upadhyay, et al.16 Cardiac examination 8. This article

Postnatal echo- Cyanotic newborn with cardiography respiratory distress

47, XX, +21

9. This article

Foetal echocardiography

47, XY, +21

Suspected cardiac defect

References

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from cyanosis, right-sided heart failure, arrhythmias and sudden cardiac death, to a completely asymptomatic presentation.3,4 Neonates might present with cyanosis mainly due to rightto-left shunting across an atrial septal defect or patent foramen ovale,4 as in the second case. The neonatal presentation may be associated with right heart failure as demonstrated by the two cases. The ECG may reveal features of right atrial enlargement as seen in case 2: prolongation of the PR interval, pre-excitation syndrome, and atrial and ventricular tachyarrhythmias.3 Chest roentgenogram may vary from a normal cardiac silhouette to a globular ‘wall-to-wall’ heart as in case 2, with or without oligemic lung fields.3 Medical treatment includes the standard heart failure medication such as digoxin and diuretics, as was given to the first patient. In cases with right ventricular outflow tract obstruction the pulmonary flow may be ductal-dependent, requiring prostaglandin therapy to maintain adequate oxygenation. The predictors of death in Ebstein’s anomaly include the grade of severity at presentation, foetal presentation, and right ventricular outflow tract obstruction (as evident in case 2).4 Ebstein’s anomaly is seldom associated with chromosomal syndromes. It has been reported in a case of Williams-Beuren syndrome,10 and seven cases of Down’s syndrome.5,11-16 These seven cases and our two cases are summarised in Table 1. It has been reported that there is a strong association between tricuspid regurgitation at 11 to 14 weeks’ gestation, Down’s syndrome and congenital cardiac defects.17,18 Foetal demise may occur spontaneously in both Ebstein’s anomaly and Down’s syndrome. It is possible therefore that a combination of Ebstein’s anomaly and Down’s syndrome might lead to early foetal demise, with resultant under-reporting of these cases. Postmortem examination and early foetal echocardiogram are not widely performed, such that the true incidence of Ebstein’s anomaly in these young Down’s syndrome foetuses remains unknown.

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