JACC Vol. 20. No.5 November I. 1992:1175-9

1175

Congenital Cleft of the Anterior Tricuspid Leaflet With Severe Tricuspid Regurgitation in Adults

PETER EICHHORN, MD, MANFRED RITTER, MD, GABOR SUETSCH, MD,

LUDWIG KARL VON SEGESSER, MD, MARCO TURINA, MD, ROLF lENNI, MD

Zurich. Switzerlalld

Objectil'es and Background. Senre primary tricuspid regurgi­tation in the adult is a rare finding. This study describes the diagnostic findings and the treatment of an isolated congenital cleft of the anterior leaflet of the tricuspid \'al\'e as the morpho­logic substrate for senre tricuspid regurgitation.

Methods. The clinical, echocardiographic findings and the follow-up findings of fi,'e patients (all male, 20 to 56 years old) with this disorder are described. Four of the fi,'e patients under­went cardiac surgery that confirmed the diagnosis.

Results. In three of five patients, exertional fatigue was the limiting symptom (New York Heart Association functional classes II and III). The clinical findings included a holosystolic murmur and supraventricular arrhythmias in all patients. Cardiac cathe-

Extended use of Doppler echocardiography in noninvasive routine cardiac examinations has contributed to an increased focus on tricuspid valve regurgitation. In one of six other­wise healthy adults, Doppler echocardiography reveals tri­cuspid regurgitation (I). Generally, tricuspid regurgitation can be described as primary, secondary or physiologic. Primary tricuspid regurgitation results from various ana­tomic anomalies of the tricuspid valve apparatus. Secondary tricuspid regurgitation is a consequence of right ventricular volume or pressure overload but otherwise implies normal tricuspid valve anatomy. Physiologic tricuspid regurgitation is considered present in the absence of any primary or secondary form of tricuspid regurgitation.

The principal causes of primary tricuspid regurgitation are prolapse of the tricuspid valve, dysfunction of the papillary muscles such as occurs in right ventricular infarc­tion, rheumatic valve disease, Ebstein's anomaly, dysplasia of the tricuspid valve, endocarditis, carcinoid syndrome or trauma (2). Except for Ebstein's anomaly, little is known about other isolated congenital anomalies of the tricuspid valve (3,4). This subject is poorly discussed even in exten­sive studies dealing with the etiology of pure tricuspid

From the Department of Internal Medicine. Cardiology and Clinic for Cardiovascular Surgery, University Hospital, 8091 Zurich, Switzerland,

Manuscript received February II, 1992; revised manuscript received April 7, 1992, accepted April 10, 1992,

Address for correspondence: Peter Eichhorn, MD, Medical Clinic, Spital Uster, Brunnenstrasse 42, CH·8610 Uster, Switzerland,

© 1992 by the American College of Cardiology

terization, performed in four patients, yielded the incorrect diagnosis of Ebstein's anomaly in three. In one patient the cleft was associated with an atrial septal defect of the secundum type. In four of fi\'e patients successful reconstruction of the tricuspid \'ah'e with a DeVega annuloplasty was performed. One patient had a partial excision of the right atrium, and one had a closure of a coexisting atrial septal defect. One patient refused operation.

Conclusions. Tricuspid ,'ah'e anomalies can be accurately identified by Doppler echocardiography. Surgical repair is the treatment of choice in patients with severe tricuspid regurgitation due to a congenital cleft of the anterior leaflet of the tricuspid \'ah'e.

(J Am CoU CardioI1992;20:1l7S-9)

regurgitation (2,5,6). Moreover, a satisfactory and updated classification of the morphology of normal and pathologic conditions of the tricuspid valve is missing.

On the basis of five cases with the Doppler echocardio­graphic diagnosis of a cleft of the anterior leaflet of the tricuspid valve and consequent severe tricuspid regurgita­tion, we discuss the clinical findings, the anatomy and some possible mechanisms of this anomaly. In addition, we pro­pose an updated classification of tricuspid valve malforma­tions causing tricuspid regurgitation.

Methods Patients. We reevaluated all 28,091 echocardiographic

studies of adults (> 15 years old) from January 1, 1985 to December 31, 1991 performed at our echocardiographic laboratory to identify patients with a cleft of the tricuspid valve. The patients' history, the pre- and postoperative clinical data and the reports from the operation were ob­tained from the medical and surgical records.

Doppler echocardiography. Doppler echocardiography was performed according to standard techniques with use of a real-time phased array sector scanner with integrated color Doppler facilities, a 2.5-MHz crystal set for imaging and a 1.9-MHz crystal set (Hewlett-Packard HP77020AC) for con­tinuous wave Doppler echocardiography. The cleft of the tricuspid valve leaflet was best visualized in real time by two-dimensional echocardiography from a parasternal long-

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1176 EICHHORN ET AL. CONGEl\ITAL CLEFT OF THE ANTERIOR TRICUSPID LEAFLET

JACe Vol. 20. No.5 l\ovembcr J, 1992:1175-9

Figure 1. Patient 4. Two-dimensional echocardiographic stop frame, parasternal long-axis view, of the right ventricle and the right atrium. RA = right atrium; RV = right ventricle; Vel = vena cava inferior; X = cleft of the anterior leaflet of the tricuspid valve.

axis view through the right side of the heart (Fig. The diagnosis of an isolated cleft of the anterior leaflet implied correct insertion of the tricuspid leaflets. The presence of a

defect in the anterior leaflet of the tricuspid valve was always associated with substantial regurgitant as demon­strated by color-coded and continuous wave Doppler echo­cardiography.

Results Five patients with a congenital cleft of the anterior leaflet

of the tricuspid valve were recruited a 7-year period with a total of 28,091 Doppler echocardiographic examina­tions. The Doppler echocardiographic diagnosis of this anomaly (Fig. 1) was confirmed during surgical exploration in four patients (Fig. 2).

Clinical history. In all five patients a heart murmur was first found between the ages of 12 and 56 years. At the time

Figure 2. Patient 4. Top, Surgical view (left) and line diagram (right) of the intraoperative site of the right atrium with bicaval cannula­tion. The arrow points to the large cleft within the anterior leaflet of the tricuspid valve. The superior vena cava cannula is at the left, the inferior vena cava cannula is at the right. Bottom, Same patient. Identical view and line diagram with the sutured cleft of the anterior tricuspid leaflet (arrow).

EICHHORN ET AL. 1177 lACC Vol. 20. No.5 November 1.1992:1175-9 CONGENITAL CLEFT OF THE ANTERIOR TRICUSPID LEAFLET

Table 1. Clinical Findings in Five Male Patients

Bicycle Stress

Age NYHA Test

PI No. (yr) Class Rhythm ECG Watts %*

I 56 /II AF RBBB 90 62 2 42 III Intermittent AF 1st 0 AVB. RBBB. QTc 0.55 s 3 21 II SV extrasystoles 1st 0 AVB. pRBBB 100 50 4 20 I ST RBBB 200 100 5 56 I AF pRBBB 90 71

*Percent of expected working capacity. AF = atrial fibrillation; AVB = atrioventricular block; ECG = electrocardiogram; NYHA Class = New York Heart Association functional classification; p = partial; Pt = patient; RBBB = right bundle branch block; ST = sinus tachycardia; SV = supraventricular.

of the first echocardiographic examination, the five male subjects (three Swiss, one Asian, one German) were 20 to 56 years old (Table 1). None of the patients had a history of endocarditis or severe chest trauma.

The cardiac history consisted of supraventricular arrhyth­mias in all patients (see laboratory findings or Table O. Three of the five patients had signs of overt heart failure (New York Heart Association functional class II or III) (Table 1). Because of the severity of heart failure, one patient was admitted to our institution for evaluation of heart transplantation.

All patients had a 2-3/6 grade holosystolic murmur at auscultation. Three patients had a prominent V wave in the jugular venous pulse, and two had peripheral cyanosis. The physical examination revealed absence of other congenital abnormalities.

Laboratory findings (Table 1). All patients had arrhyth­mias. The electrocardiogram (ECG) documented chronic or paroxysmal atrial fibrillation in three patients, supraventric­ular premature beats in one patient and sinus tachycardia in another. In addition, three patients had complete and two had partial right bundle branch block. Two patients had first-degree atrioventricular block and one patient had a prolongation of the QT interval.

The physical exercise was tested by upright bicycle ergometry in four of five patients but was omitted in one patient because of manifest heart failure. In three patients working capacity was reduced by 50% to 71% of the pre­dicted value and was normal in one patient (Table 1).

Chest X-ray film (Table 2) showed a marked enlargement

Table 2. Results of Chest X-Ray Study and Cardiac Catheterization

of heart size in four of the five patients (Fig. 3) and was normal in one patient. A good echocardiographic image quality was obtained in all patients. Besides the cleft of the tricuspid valve, other cardiac abnormalities were found (Table 2): 1) One patient had an atrial septal defect of the secundum type, although the shunt was considered insignif­icant. 2) Similarly, in a second patient with a fistula from an atrial branch of the right coronary artery to the pUlmonary artery, the shunt was not considered hemodynamically rel­evant. 3) A third patient who was not treated surgically had a dysplastic tricuspid valve; that is, the chordae tendineae of the septal and posterior leaflets were shortened and thick­ened. All patients had severe tricuspid regurgitation, but no pulmonary hypertension could be detected when calculated from the pressure difference between the right ventricle and right atrium with a continuous wave Doppler echocardiog­raphy.

Four patients underwent cardiac catheterization before the correct diagnosis was established by Doppler echocar­diography; one patient underwent three catheterization studies. In three patients the catheterization findings were considered to indicate Ebstein's anomaly. Right heart cath­eterization and pressure measurements excluded pulmonary hypertension in the four patients studied (Table 2). Right ventricular angiography, performed in three patients, con­firmed the presence of severe tricuspid regurgitation but failed to demonstrate cleft of the anterior leaflet as its underlying cause.

Surgery and Collow-up study. Four patients had success­ful reconstruction of the tricuspid valve with DeVega annu-

Cath RAP(mm Hg) RVP(mm Hg)

Cardiac Index PI No. CTR (no.) Anomalies Mean V Waves Systolic End·Diastolic (liters/min per m2)

I 0.62 3 Fistula 13 22 31 7 3.9 2 0.65 2 7 14 23 -I 1.8 3 0.57 2 ASD 4 6 21 4 3.1 4 0.50 I 4 13 20 7 3.1 5 0.60 TVD

ASD = atrial septal defect; Cath = cardiac catheterizations before correct diagnosis by echocardiography; CfR = cardiothoracic ratio; PI = patient; RAP F right atrial pressure; RVP = right ventricular pressure; TVD = tricuspid valve dysplasia.

1178 EICHHORN ET AL. CONGE:>IITAL CLEFT OF THE ANTERIOR TRICCSPlD LEAFLET

lACC Vol. 20. No.5 :>Iovember I, 1992:1175-9

Figure 3. Patient 2. Chest X-ray film (frontal view) showing an enlarged silhouette of the heart (cardiothoracic ratio 0.65) resulting from dilation of the right-sided heart chambers, as could be verified by echocardiography. No pulmonary congestion is present.

loplasty (Fig. 2). In addition, partial excision of the right atrium was performed in one patient and closure of a coexisting atrial septal defect in another. Postoperative follow-up study was uneventful in three patients, and one patient is still being treated for heart failure (functional class II). The patient who refused operation remained asympto­matic with afterload-reducing medical treatment (functional class

Discussion The clinical features of the described disorder include

right heart failure, supraventricular arrhythmias and periph­eral cyanosis. At cardiac auscultation, a grade 2-3/6 holo­systolic murmur is audible. The ECG often demonstrates a right heart volume overload or right bundle branch block, or both, findings that are common in other forms of primary tricuspid regurgitation, such as dysplasias of the tricuspid valve In most cases, the chest X-ray film shows marked enlargement of right-sided heart chambers without signs of pulmonary venous congestion. The invasive study confirms severe tricuspid regurgitation, whereas the cause of the regurgitation cannot be evaluated by conventional angiogra­phy. Echocardiography represents the most reliable diagnos­tic tool and allows description of the morphology of the tricuspid valve and a semiquantitative evaluation of the severity of the regurgitation. In particular, two-dimensional echocardiography accurately differentiates between Eb­stein's anomaly, an endocardial cushion defect or other

primary or secondary forms of tricuspid regurgitation. When transthoracic echocardiograms are of good quality, as they were in all of our patients, transesophageal echocardiog­raphy would provide no further information.

A cleft of the tricuspid valve is a rare Doppler echocar­diographic finding. In a previous of adolescents and adults routinely examined with Doppler echocardiography, we found an incidence of one cleft in 161 patients with newly recognized congenital heart disease (0.6%). In the present study, five patients with this anomaly were found among 28,091 Doppler echocardiographic studies (0.018%). Even though all of our patients were male, because of the small size of the group, no conclusions relating to gender can be drawn.

Several efforts have been made to classify congenital tricuspid regurgitation. Lagarde et al. (9) separated patients with these anomalies into two groups. One group comprised the newborn, whose condition may be fatal within several days to weeks because of right ventricular failure (7) or may resolve without residual defects (10,11). In the latter case, the etiology is thought to be a functional overload of the right ventricle rather than a congenital anomaly (10,11). The other group comprised patients with decompensation during adult life, as demonstrated in our cases (8,9,12-15). In all cases the reason for the tricuspid regurgitations was dyspJasias of the tricuspid valve.

Three of our cases were misdiagnosed as Ebstein' s anom­aly, which is the most common and best known cause of severe congenital tricuspid regurgitation. In Ebstein's anom­aly, insertion of the septal and posterior tricuspid valve leaflets is dislocated into the right ventricle. This diagnostic feature is easily demonstrated by echocardiography.

Other, less common congenital disorders with isolated severe tricuspid regurgitation are dysplasias of the tricuspid valve. According to the classification of Becker et al. (16), the term dysplasias includes all deformities of the tricuspid valve that are not associated with an anomalous insertion of the tricuspid valve. They are divided into three subgroups (grades I to III), corresponding to the severity of the anomaly (Table 3). Thus, focal or diffuse thickening of the valve leaflets is classified as grade I, whereas a deficient development of the chordae and the papillary muscles or an improper separation of the valve components from the ventricular wall is summarized as grade II. A focal agenesis of valvular tissue is classified as grade III. Other rare forms of tricuspid malformations have been presented as case reports (17,18) or are described in our series. The cited classification (16) does not consider other anomalies of the tricuspid valve such as additionalleaftets or clefts. The latter form of tricuspid valve anomaly represents a new morpho­logic entity and therefore deserves attention.

In contrast to clefts of the tricuspid valve, clefts of the mitral valve are well known. They are described as associ­ated with atrial and ventricular septal defects, endocardial cushion defects, transposition of the great arteries and even as isolated anomalies (19,20). To date, no patient has been

EICHHORN ET AL. 1179 JACC Vol. 20, No.5 November 1, 1992:1175-9 CONGENITAL CLEFf OF THE ANTERIOR TRICUSPID LEAFLET

Table 3. Forms of Tricuspid Regurgitation

1. Primary tricuspid regurgitation Congenital

Tricuspid valve prolapse Ebstein's anomaly Tricuspid valve dysplasia (grades I to III) Abnormal number of leaRets Cleft ofa tricuspid leaRet Endocardial cushion defect Left-sided tricuspid valve in congenitally corrected transposition of

the great arteries Pulmonary atresia with intact ventricular septum

Acquired Endocarditis Rheumatic valve disease Carcinoid (or other tumors) Trauma

2. Secondary tricuspid regurgitation 3. Physiologic tricuspid regurgitation

described with a congenital cleft of the tricuspid valve requiring surgical intervention for severe tricuspid regurgi­tation.

We hypothesize two possible explanations for the occur­rence of a cleft. In all of our cases the cleft was located in the anterior leaflet close to the area where the lateral endocardial cushion meets the right dorsal conus swelling. The cleft might therefore be the result of an anomalous fusion. A second possible explanation is the large variability of the anatomic structure of the tricuspid valve itself. Under cer­tain circumstances, even the pathologist finds it difficult to differentiate between clefts and additional valves (21).

A further speculation is based on the observation that one of the five patients with a cleft showed additional dysplasia of the tricuspid valve. With the assumption of an individual variation of one single malformation, this patient might have the full version of the anomaly, whereas the other four have a minor form of the dysplasia.

Conclusions. The newly described isolated cleft of the anterior leaflet of the tricuspid valve with severe tricuspid regurgitation is a rare congenital anomaly. It is probably a lone malformation of the tricuspid valve occurring during embryologic morphogenesis. The diagnosis is easily made by echocardiography. The treatment of choice is surgical recon­struction of the deficient leaflet.

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