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Acta med. scand. Vol. 189, pp. 515-520, 1971 THE DIAGNOSIS OF EBSTEIN’S DISEASE OF THE HEART JBrgen Fischer Hansen and Alf Weanevold From the Medical Department B, Rigshospitalet (University Hospital), and the Queen Loube’s Childrens’ Hospital, Copenhagen, Denmark Abstract. On the basis of 20 patients from our depart- ments a review is given of the clinical, electrocardio- graphic, radiological and haemodynamic features of Eb- stein’s disease. The clinical spectrum is very broad, and the presence or absence of cyanosis is essential in the estimation of the severity of the disease, the cyanotic cases usually being diagnosed in childhood. Dyspnoea on exertion, malar flush, palpitations and precordial pains are the most consistent symptoms. The diagnosis is pos- sible on clinical grounds in the typical cases with the combination of a systolic and a diastolic murmur to- gether with an audible third heart sound, with right bundle branch block, tall P waves, and with considerable enlargement of the right side of the heart on the roent- genogram. In less severe cases right heart catheteriza- tion and angiocardiography are needed for confirmation of the diagnosis. In Ebstein’s disease there is a malformation and downward displacement of the tricuspid valve with reduction in size of the functional right ven- tricular cavity, sometimes associated with tricuspid incompetence. Often an atrial septa1 defect is present also, and in these cases central cyanosis due to a venous-arterial shunt through the defect is usually present. Since the first description in 1866 (3) several hundred cases have been reported, and the dis- ease was extensively reviewed by Genton and Blount in 1967 (4). The diagnosis is possible in vivo (13), and in recent years the interest in the disease has been increasing due to reports of successful radical Dperations during cardiopulmonary bypass (1, 6, 7, 11). The purpose of this paper is to point to the characteristic diagnostic features of Ebstein’s dis- ease by reviewing 20 cases from our depart- ments at the time of the first admission when the diagnosis was established. MATERIAL AND METHODS The 20 patients ranged in age from 2 to 55 years. The distribution according to age and sex is seen in Table I. Phonocardiograms were obtained in all patients. Routine 12-lead ECGs were obtained in all patients except one, in whom only the standard leads were available. The electrical axis in the frontal plane was determined by measurement of the amplitudes. In all patients the car- diothoracic ratios and heart volumes were determined. All patients underwent right heart catheterization, in- cluding the recording of intracardiac ECGs in two pa- tients and angiocardiography in 13. The diagnosis was confirmed at autopsy in four patients (cases 2, 7, 10 and 16) and at operation in two (cases 1 and 5). The case histories of six patients (cases 3, 7, 10, 11, 12, 14) have been previously published (5). RESULTS Clinical features The most consistent symptom is dyspnoea on ex- ertion, which was present in all patients but one (case 9). Fourteen patients were in functional ca- pacity class I1 and the remaining five in class I11 (Table I). Cyanosis was found in nine patients, eight of whom had clubbing; in one of the cyanotic patients squatting was described (case 1). A malar flush was described in 12 patients, most of whom were cyanotic. In five of the six pa- tients with precordial pains these were related to exertion; one of these patients (case 15) and the remaining patient (case 18) had attacks of pain at rest, lasting for about one half to one hour. Two patients (cases 2 and 20) had mild con- gestive heart failure on admission. Vigorous pulsa- tion of the neck veins was seen in four patients. All patients had a normal blood pressure. A uscultation Abnormal auscultatory findings were present in all patients and consisted of either a systolic mur- Acta rned. scand. 189

THE DIAGNOSIS OF EBSTEIN'S DISEASE OF THE HEART

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Acta med. scand. Vol. 189, pp. 515-520, 1971

THE DIAGNOSIS OF EBSTEIN’S DISEASE OF THE HEART

JBrgen Fischer Hansen and Alf Weanevold

From the Medical Department B, Rigshospitalet (University Hospital), and the Queen Loube’s Childrens’ Hospital, Copenhagen, Denmark

Abstract. On the basis of 20 patients from our depart- ments a review is given of the clinical, electrocardio- graphic, radiological and haemodynamic features of Eb- stein’s disease. The clinical spectrum is very broad, and the presence or absence of cyanosis is essential in the estimation of the severity of the disease, the cyanotic cases usually being diagnosed in childhood. Dyspnoea on exertion, malar flush, palpitations and precordial pains are the most consistent symptoms. The diagnosis is pos- sible on clinical grounds in the typical cases with the combination of a systolic and a diastolic murmur to- gether with an audible third heart sound, with right bundle branch block, tall P waves, and with considerable enlargement of the right side of the heart on the roent- genogram. In less severe cases right heart catheteriza- tion and angiocardiography are needed for confirmation of the diagnosis.

In Ebstein’s disease there is a malformation and downward displacement of the tricuspid valve with reduction in size of the functional right ven- tricular cavity, sometimes associated with tricuspid incompetence. Often an atrial septa1 defect is present also, and in these cases central cyanosis due to a venous-arterial shunt through the defect is usually present.

Since the first description in 1866 (3) several hundred cases have been reported, and the dis- ease was extensively reviewed by Genton and Blount in 1967 (4).

The diagnosis is possible in vivo (13), and in recent years the interest in the disease has been increasing due to reports of successful radical Dperations during cardiopulmonary bypass (1, 6, 7, 11).

The purpose of this paper is to point to the characteristic diagnostic features of Ebstein’s dis- ease by reviewing 20 cases from our depart- ments at the time of the first admission when the diagnosis was established.

MATERIAL AND METHODS The 20 patients ranged in age from 2 to 55 years. The distribution according to age and sex is seen in Table I. Phonocardiograms were obtained in all patients. Routine 12-lead ECGs were obtained in all patients except one, in whom only the standard leads were available. The electrical axis in the frontal plane was determined by measurement of the amplitudes. In all patients the car- diothoracic ratios and heart volumes were determined. All patients underwent right heart catheterization, in- cluding the recording of intracardiac ECGs in two pa- tients and angiocardiography in 13. The diagnosis was confirmed at autopsy in four patients (cases 2, 7, 10 and 16) and at operation in two (cases 1 and 5). The case histories of six patients (cases 3, 7, 10, 11, 12, 14) have been previously published ( 5 ) .

RESULTS Clinical features The most consistent symptom is dyspnoea on ex- ertion, which was present in all patients but one (case 9). Fourteen patients were in functional ca- pacity class I1 and the remaining five in class I11 (Table I). Cyanosis was found in nine patients, eight of whom had clubbing; in one of the cyanotic patients squatting was described (case 1). A malar flush was described in 12 patients, most of whom were cyanotic. In five of the six pa- tients with precordial pains these were related to exertion; one of these patients (case 15) and the remaining patient (case 18) had attacks of pain at rest, lasting for about one half to one hour. Two patients (cases 2 and 20) had mild con- gestive heart failure on admission. Vigorous pulsa- tion of the neck veins was seen in four patients. All patients had a normal blood pressure.

A uscultation Abnormal auscultatory findings were present in all patients and consisted of either a systolic mur-

Acta rned. scand. 189

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516 J . Fischer Hansen and A . Wennevold

Table I. Survey of clinical findings in 20 patients with Ebstein’s disease at the time of diagnosis

Pat. no. . . . 1 2 3 4 5 6 7 8 9 10 1 1 12 13 14 15 16 17 18 19 20 Age (y.) . . . 2 3 7 8 8 9 10 12 13 18 22 22 25 26 28 28 30 36 43 55

Functional capacity, class ... Ill 111 I1 11 111 11 I1 I1 I I1 I1 I1 I1 I1 I1 11 I1 111 I1 111 Sex ... ? d ? ! ? Y 9 ? d s d d s ? d d ? 3 d s d

Dyspnoea on exercise Palpitations Precordial pains Cyanosis Clubbing Malar flush Systolic murmur Diastolic murmur 3rd heart sound

mur, a diastolic murmur, a third heart sound, or a combination (Fig. 1) as shown in Table I. The localization was at the apex and/or at the left sternal border in the third or fourth intercostal space. The systolic murmur was holosystolic, of medium to high frequency ranging from grade 1 to 4 (of 6), and was present in 19 patients; two patients had in addition a grade 1-2 systolic ejec- tion murmur in the pulmonary area. The diastolic murmur was usually mid- to end-diastolic and of low frequency grade 1 to 2.

of the P waves in lead 11, the P-Q interval and the QRS duration are shown in Table 11. The P waves in lead I1 were usually broad and tall

Electrocardiography

All patients had an abnormal ECG with bundle branch block; in 18 patients it was right-sided (Fig. 2), in one left-sided (Table 11, case 2), and in one with Wolff-Parkinson-White block type B it was intermittent right-sided and left-sided (case 12). One patient (case 20) had atrial fibrillation, all others had sinus rhythm. The electrical axis in the frontal plane, the duration and amplitude

Fig. 2. ECGs from patients 2, 3, 9, 11 and 17 (from left), showing left sided bundle branch block (patient 2,

Fig. I. Phonocardiogriun recorded from the fourth in- first from left) and four different types of QRS com- tercostal space at the left sternal border in patient 6, show- plexes in right sided bundle branch block. Tall peaked ing the third heart sound, the systolic murmur, and the P waves in the standard and precordial leads are seen diastolic murmur. Paper speed 50 mmlsec. Mingograph in patient 3 (second from left). 1 mV= 1 cm (the height 31B, Elerna-Schonander, of two squares).

Acra med. scand. 189

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Ebstein’s disease 5 17

and also often prominent in all precordial leads. In eight patients a Q wave was found in lead aVR. The voltage of R and R in lead V1 was less than 0.9 mV in 19 patients. A broad S wave in lead Vo (more than 0.04 sec) was present in 13 patients.

Fig. 4 a and b. Chest roentgenogram, anterior-posterior projection (a) and lateral projection (b) of patient 20, who was acyanotic but with marked symptom’. The heart is huge. The lung vascularity is slightly reduced.

Radiology All patients had enlarged cardiac silhouettes on the roentgenogram of the chest (Figs. 3 and 4), the cardiothoracic index varying between 49 and 85 (Table 11). The right side of the heart was described as enlarged in 11 patients, the left side

Fig. 3 a and 6. Chest roentgenogram, anterior-posterior, in two, and both sides in one; in the remaining six cases it could not be determined which cavities projection (a) and lateral projection (b) of patient 8,

who was cyanotic. The heart is moderately enlarged espe- cially to the right and has a spherical form. The lung were enlarged. The heart volume was usually most vascularity is markedly reduced. increased in the acyanotic patients (Table 11).

Acta med. scand. 189

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518 J . Fischer Hansen and A . Wennevold

Table 11. Electrocardiographic and radiologic findings in 20 patients with Ebstein’s disease Patient 2 had left bundle branch block, patient 12 intermittent left and right bundle branch block and patient 20 atrial fibrillation.

Pat. no. 1 2 3 4 5 6 7 8 9 10 1 1 12

Axis frontal plane +I35 -30 +I50 -60 -1120 -1-120 + 110 +I20 +30 -60 +I20 -45‘ - 10

PII duration (sec) 0.10 0.10 0.08 0.10 0.08 0.10 0.10 0.10 0.08 0.09 0.11 0.10 Pa amplitude (mV) 0.25 0.40 0.40 0.40 0.30 0.30 0.40 0.30 0.20 0.40 0.30 O.l5=

0.25 PQ duration (sec) 0.14 0.22 0.18 0.16 0.17 0.20 0.18 0.17 0.18 0.16 0.24 0.10 QRS duration (sec) 0.10 0.16 0.11 0.11 0.10 0.10 0.10 0.11 0.08 0.14 0.12 0.18‘

0.12 Heart rate (min) 150 90 90 102 120 86 83 86 73 72 61 58

53 Cardiothoracic index 54 54 74 66 56 57 67 62 52 49 68 59 Heart vol. (ml/ma BSA) 315 635 1020 780 350 390 750 500 450 580 740 420 Arterial oxygen saturation (%) 68 - 89 84 78 93 87 82 92 89 96 90

a When left bundle branch block.

Central lung vascularity was judged to be normal in one cyanotic patient (case 4) and in two acya- notic (cases 6 and 17), and in the remaining pa- tients it was reduced, especially in the cyanotic. The peripheral lung vascularity was decreased in all patients but two (cases 4 and 17), in whom it was described as normal.

Cardiac catheterization At right heart catheterization an additional atrial septal defect was found in all the nine patients with central cyanosis and decreased arterial oxy- gen saturation (below 92%) (Table 11). A small persistent ductus arteriosus was found in one pa- tient. One patient (case 2) probably had additional pulmonary stenosis, as the pressure in the right ventricle was 56 mmHg in systole and a pulmo- nary ejection murmur was present; the pulmonary artery was not entered.

In the remaining 19 patients the pressure in the right ventricle was below 30 mmHg in systole; in four of these patients the pulmonary artery was not entered. The mean pulmonary “wedge” pressure was below 7 mmHg in the 11 patients in whom it was measured. The v-wave in the pressure tracing from the right atrium was 13 mmHg and 17 mmHg, respectively, in two pa- tients (cases 14 and 20), but in all the remain- ing 18 patients it was only between 2 and 7 mmHg. The pressure tracing from the right atrium often showed near confluence of the a- and v- waves due to a small x-descent.

An intracardiac ECG was recorded in two pa-

Acta med. scand. 189

tients, revealing ventricular QRS complexes from a large area with atrial pressure. The cardiac in- dex was determined in four patients (cases 13, 15, 18 and 20), being 2.6, 1.5, 1.1 and 2.1 l/min/ sq.m, respectively.

At selective angiocardiography with contrast in- jection into the right atrium the diagnosis was confirmed in 12 of 13 patients, as a small right ventricle was demonstrated, situated above and in front of a large right atrium with displace- ment of the tricuspid ostium to the left. In one patient the angiocardiography was inconclusive.

During catheterization two patients had short- lasting episodes of atrial fibrillation and two had short bouts of supraventricular tachycardia; all arrhythmias subsided spontaneously. No serious complications were encountered.

DISCUSSION

Our series confirms the statement made by sev- eral authors in recent years (4, 8, 9, 12, 16) that the clinical spectrum in patients with Ebstein’s disease is very broad, varying from severely cya- notic cases or cases with congestive heart failure to asymptomatic cases.

The presence or absence of cyanosis is essen- tial in the estimation of the severity of the dis- ease, and the diagnosis in the cyanotic cases is usually established in childhood. The three cyano- tic patients in our series, in whom the diagnosis was made in adulthood, were examined shortly after the introduction of the technique of heart

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Ebstein’s disease 519

13 14 I5 16 17 18 19 20

f120 +I20 +30 +I50 +120 -30 -30 +I20

0.06 0.12 0.11 0.10 0.06 0.10 0.10 - 0.20 0.20 0.40 0.35 0.10 0.20 0.20 -

0.17 0.18 0.20 0.22 0.17 0.16 0.22 - 0.14 0.14 0.12 0.13 0.10 0.16 0.10 0.16

70 58 97 16 50 84 100 75

64 55 69 62 55 51 61 85 475 720 1200 600 630 600 700 1700 96 93 98 86 97 97 99 97

catheterization, Our three acyanotic children were referred because of congestive heart failure (case 2) or because a heart murmur was discovered at routine examination (cases 6 and 9).

Dyspnoea on exertion, in cyanotic as well as acyanotic cases, malar flush, palpitations and pre- cordial pains are the most frequent clinical find- ings.

The combination of systolic and diastolic mur- murs together with an audible third heart sound, which is highly suggestive of Ebstein’s disease (lo), was found in 8 of our 20 patients. The mur- murs in themselves do not permit any certain diagnosis; several of our patients were suspected of having mitral valve disease, probably because the murmurs often were loudest at the apex. Aus- cultatory findings may be completely within nor- mal limits (7).

The following characteristic features of the ECG are stated by Burch and DePasquale (2) “ 1 ) paroxysmal atrial or ventricular tachycardia, 2) anomalous atrioventricular conduction, 3) pro- longation of the P-R interval, 4) tall P waves which are often prolonged in duration, and 5 ) atypical complete or ‘incomplete’ right bundle branch block pattern”. Though no attacks of tachycardia were recorded in our patients, six of them complained of palpitations, and arrhyth- mias were provoked in four patients during cardiac catheterization. One patient had Wolff- Parkinson-White block, which is present in 5- 10% of cases with Ebstein’s disease, and the dis- ease should especially be suspected when the block

is of type B (8). The PR (PQ) interval was pro- longed in most children in our series. In most of our patients we found tall P waves, but in two patients only the P waves were broader than 0.10 sec. One of our patients had left bundle branch block, which is found in 2-5% of cases (4, 14). A Q wave in lead aVR is supposed to be invariably present in Ebstein’s disease (2), but we cannot confirm this statement. All cyanotic patients except the one with Wolff-Parkinson- White block had P waves in lead I1 with am- plitude equal to or more than 0.25 mV, while the amplitude was increased in less than half of the acyanotic patients. None of our patients had an entirely normal ECG, but this has been de- scribed in infants (8).

The roentgenogram of the chest showed a slight to enormous enlargement of the heart in all pa- tients. In three acyanotic patients (cases 6, 9 and 15) with slight or no symptoms the heart volume was below 500 ml/sq.m, while the re- maining acyanotic patients with more severe symptoms had volumes of over 600 ml/sq.m. Most of the cyanotic patients had heart volumes below 600 ml/sq.m. Radiologically there seems to be a distinction between the acyanotic pa- tients with marked symptoms and the cyanotic pa- tients: the former group generally have markedly enlarged hearts and only slightly reduced lung vascularity, while the latter group have less in- creased heart volumes but more reduced lung vascularity. From the chest roentgenogram it might be difficult to determine which heart chamber is enlarged, because of the rotation which the right atrium may cause; this explains why the left side of the heart sometimes erroneously is thought to be enlarged.

At angiocardiography with contrast injection into the right atrium a diagnosis of Fallot’s te- tralogy is sometimes suggested in the presence of an atrial septa1 defect, because of the simul- taneous filling of both the right and left heart cavities, the often small pulmonary artery, and the reduced vascularity of the lungs (10). In these cases the measurement of the pressure in the right ventricle is important and ensures the diagnosis. The recording of an intracardiac ECG may be of help, but both false positive and false negative results may be obtained (8, 15). A high mortality has been reported in connection with cardiac catheterization of patients with Ebstein’s

Acta med. scand. 189

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520 J . Fischer Hansen and A . Wennevold

disease (10, 16), but in our experience the risk is not increased.

The diagnosis of Ebstein's disease is not dif- ficult on clinical grounds in the typical cases, with cyanosis, dyspnoea on exertion, systolic and diastolic murmurs and a third heart sound at the apex or along the left sternal border, right bundle branch block with tall P waves, and considerable enlargement of the right side of the heart giving a globe-shaped silhouette on the roentgenogram. But some patients are asymptomatic, some have normal auscultatory findings or a normal ECG, and some a normal chest roentgenogram; in these cases the diagnosis can only be suspected clinically and has to be confirmed at cardiac catheterization and angiocardiography.

REFERENCES 1. Barnard, C. N. & Schrire, V.: Surgical correction of

Ebstein's malformation with prosthetic tricuspid valve. Surgery 54: 302, 1963.

2. Burch, G. E. & DePasquale, N. P.: Electrocardio- graphy in the diagnosis of congenital heart disease. Lea & Febiger, Philadelphia 1967.

3. Ebstein, W.: Uber einen sehr seltenen Fall von In- suffizienz der Valvula tricuspidalis, bedingt durch eine angeborene hochgradige Missbildung derselben. Arch. Anat. Physiol. wiss. Med., p. 238, 1866.

4. Genton, E. & Blount, S. G., Jr: The spectrum of Ebstein's anomaly. h e r . Heart J. 73: 39.5, 1967.

5. G@tzsche, H. & Falholt, W.: Ebstein's anomaly of the tricuspid valve. Amer. Heart J. 47: 587, 19.54.

6. Hardy, K. L. & Benson, B. R.: Ebstein's anomaly. J. thorac. cardiovasc. Surg. 58: 553, 1969.

7. Kay, J. H., Tsuji, 11. K., Redington, J. V., Yamada, T., Kagawa, Y. & Kawashima, Y.: The surgical treat- ment of Ebstein's malformation with right ventricular aneurysmorrhaphy and replacement of the tricuspid valve with a disc valve. Dis. Chest 51: 537, 1967.

8. Lowe, K. G., Emslle-Smith, D., Robertson, P. G. C. & Watson, H.: Scalar, vector, and intracardiac elec- trocardiograms in Ebstein's anomaly. Brit. Heart J. 30: 617, 1968.

9. Macruz, R., Tranchesi, J., Ebaid, M., Pileggi, F., Romero, A. & Dicourt, L. V.: Ebstein's disease. Amer. J. Cardiol. 21: 653, 1968.

10. Nadas, A. S.: Pediatric cardiology, 2nd ed., p. 688. Saunders, Philadelphia 1966.

11. Ptrez-Alvarez, J. J., P6rez-Treviii0, C., Gaxiola, A. & Reta-Villalobos, A.: Ebstein's anomaly with pul- monic stenosis. Amer. J. Cardiol. 2 0 411, 1967.

12. Pocock, W. A,, Tucker, R. B. K. & Barlow, J. B.: Mild Ebstein's anomaly. Brit. Heart J. 31: 327, 1969.

13. Reynolds, G.: Ebstein's disease-a case diagnosed clinically. Guy's Hosp. Rep. 99: 276, 1950.

Acta med. scand. 189

14. Vacca, J. B., Bussmann, D. W. & Mudd, J. G.: Ebstein's anomaly. Complete review of 108 cases. Amer. J. Cardiol. 2: 210, 1958.

15. Watson, H.: Electrode catheters and the diagnosis of Ebstein's anomaly of the tricuspid valve. Brit. Heart J. 28: 161, 1966.

16. Wood, P.: Diseases of the heart and circulation, 3rd. ed., p. 411. Eyre and Spottiswoode, London 1968.