Tetralogy of Fallot with right pulmonary artery origin from the ascending aorta: noninvasive diagnosis and surgical correction in a 7-week-old infant

Anomalous origin of one pulmonary artery from the ascending aorta is a rare anomaly which is almost always associated with hypertension in the contralateral pulmonary artery originating from the right ventricle. We report echocardiographic evaluation of an infant with tetralogy of Fallot and aortic origin of the right pulmonary artery. Since all relevant information regarding anatomy and hemodynamics could be obtained by echocardiography, cardiac catheterization and angiography were unnecessary. Surgical correction including transatrial patch closure of the ventricular septal defect, resection of the infundibular stenosis and direct reimplantation of the right pulmonary artery was performed successfully at the age of 7 weeks. The postoperative course was uneventful and persistent pulmonary hypertension was excluded by echocardiography. Our case shows that complete echocardiographic evaluation is possible in infants with this complex cardiac malformation. We recommend reserving cardiac catheterization for those patients with echocardiographic evidence of significant elevation of pulmonary vascular resistance. In order to avoid irreversible pulmonary vascular changes early surgical correction within the first 3 months of life should be performed in all children with aortic origin of a pulmonary artery including those with associated tetralogy of Fallot.     

Accuracy of prospective two-dimensional/Doppler echocardiography in the assessment of reparative surgery

Between January 1987 and January 1989, all 129 patients (aged 11 days to 25 years, median 39 months) undergoing both an echocardiographic examination and cardiac catheterization after reparative surgery were prospectively included in a study to assess the accuracy of combined two-dimensional and Doppler color flow imaging. The patient diagnoses were transposition of the great arteries (n = 20), tetralogy of Fallot (n = 38), coarctation of the aorta (n = 24), complete atrioventricular (AV) canal (n = 15), atrial septal defect (n = 8), ventricular septal defects (n = 3), pulmonary stenosis (n = 4), aortic stenosis (n = 8) and subaortic stenosis (n = 9). In arterial tract stenosis, there was high correlation between Doppler estimates and catheterization-derived measurements of residual right ventricular outflow tract obstruction in patients after the arterial switch operation for transposition of the great arteries (r = 0.95) as well as in patients after corrective repair of tetralogy of Fallot (r = 0.84). In semilunar/AV valve regurgitation, graded as none, mild, moderate or severe, echocardiographic estimates correlated exactly with angiographic grading in 84% and differed by one angiographic grade in the other 16%. In residual left to right shunting, no hemodynamically significant shunt was missed by echocardiography. For residual shunts at the ventricular level (n = 32), addition of Doppler color flow imaging improved the sensitivity (from 63% to 94%) and the negative predictive value (from 88% to 98%). In elevated right ventricular pressure, Doppler-derived right ventricular-right atrial pressure estimates in 24 patients correlated well with catheterization measurements (r = 0.93). Combined two-dimensional and Doppler color flow echocardiography was highly accurate in the prospective evaluation of these four types of postoperative residual.     

Complete atrioventricular septal defect with tetralogy of Fallot: diagnosis and management.

OBJECTIVE--To report recent experience of patients with complete atrioventricular septal defect and tetralogy of Fallot, with emphasis on anatomical features, diagnosis, and management. DESIGN--Case notes were reviewed and patients were assessed at follow up by clinical examination and cross sectional and Doppler echocardiography. SETTING--Tertiary cardiothoracic referral centre. PATIENTS--Between 1987 and 1992 13 patients with atrioventricular septal defect and tetralogy of Fallot (12 with concordant and one with double outlet ventriculoarterial connections) underwent surgery; 10 underwent complete intracardiac repair. 11 patients had Down's syndrome. The complete diagnosis was established preoperatively by cross sectional echocardiography in all but one patient. A tri-leaflet left atrioventricular valve as seen in parasternal short axis views was the diagnostic feature of atrioventricular septal defect, with tetralogy of Fallot diagnosed from the presence of anterocephalad deviation of the outlet septum producing subvalvar pulmonary stenosis as seen in subcostal right anterior oblique views. INTERVENTIONS--Total correction consisted of closure of the atrioventricular septal defect by a combined right atrial and ventricular approach, reconstruction of the atrioventricular valves, and relief of the obstruction within the right ventricular outflow tract. Separate patches were used to close the atrial and ventricular septal defects. Modified Blalock-Taussig shunts were performed in three patients, who await intracardiac repair. Surgical correction was carried out at mean (range) age of 5 (2 to 15) years. MAIN OUTCOME MEASURES--Diagnostic methods, surgical results, and functional state after complete correction. RESULTS--The presence of an atrioventricular septal defect was missed preoperatively in one patient with tetralogy of Fallot. The characteristic goose neck deformity on the left ventriculogram was not present and the tri-leaflet nature of the left atrioventricular valve was not sought on echocardiography. Of the 10 patients who underwent complete repair, nine are alive and one died 34 days after operation with adult respiratory distress syndrome. Examination at necropsy showed an excellent surgical correction. Mean (range) follow up was 23 (8 to 48) months. All nine patients are alive and well (New York Heart Association Class 1). CONCLUSION--Accurate diagnosis and staged management with improved surgical techniques have lowered mortality of this complex combination of cardiac defects. The current policy of this group is to recommend a systemic to pulmonary arterial shunt procedure for symptomatic children younger than 2 years and total correction in older children.     

Coarctation repair without cardiac catheterization in infants

Of 35 infants who underwent an operation for coarctation of the aorta, 15 did not undergo cardiac catheterization before surgery. The diagnoses in all uncatheterized patients were made by clinical examination, chest radiography, ECG, and two-dimensional echocardiography combined with pulsed Doppler echocardiography. Associated anomalies diagnosed by two-dimensional/Doppler echocardiography included a patent ductus arteriosus in all patients, bicuspid aortic valve in six, small ventricular septal defect in four, and complete common atrioventricular canal in one. In no instance was the diagnosis of coarctation in error. In addition, the clinical significance of the ventricular septal defect was judged correctly by two-dimensional echocardiography, and no patient required an early reoperation because of significant left-to-right shunt. Two significant lesions were missed in one patient each: mitral stenosis and aortic stenosis. These diagnoses were missed in patients who were first seen with either profound congestive heart failure or shock. Coarctation of the aorta and associated lesions can be diagnosed accurately by two-dimensional echocardiography. This permits proper patient management without the added risk of cardiac catheterization. Although mitral and aortic lesions may be missed because of low cardiac output, this does not result in management errors.     

Congenital cardiopathies in the newborn]

Ten years experience in newborn congenital cardiac malformations with severe hemodynamic changes is reported. The anatomic diagnosis was made at necropsy (85%) or by cardiac catheterization and angiocardiography (15%). One hundred and twenty-six cases were found in which aortic valve atresia or stenosis, tricuspid atresia, cardiac anomalies associated to visceral heterotaxy, tetralogy of Fallot, aortic coartation, endocardial cushion defect, ventricular septal defect, total anomalous pulmonary venous return and pulmonary atresia with intact ventricular septum were the most common malformations. They presented with either cardiac insufficiency or hypoxia and acidosis. The principal anatomic features of these cases were discussed and the associated malformations in other systems was noted.     

Tetralogy of Fallot in adults. A report on 147 patients.

Presented here is the clinical and hemodynamic profile of 147 patients, above the age of 18 with tetralogy of Fallot. Cardiac catheterization and selective cineangiocardiography were performed in all. Infundibular pulmonary stenosis, a subaortic large infracristal ventricular septal defect, mitral-aortic fibrous continuity and equal pressures in both the ventricles and aorta were considered mandatory for the diagnosis of tetralogy of Fallot. Cardiac enlargement was seen in 25.8 per cent of the patients, and 15.6 per cent were in congestive cardiac failure; 9.5 per cent had systemic hypertension, and aortic regurgitation was present in 6.7 per cent. A reticular pattern in the lung fields due to bronchial collaterals was seen in 23.1 per cent. The incidence of right aortic arch (19.9 per cent), absent left pulmonary artery (2.8 per cent), absent right pulmonary artery (0.7 per cent) and dextrocardia (1.4 per cent) is brought out. The right atrial mean pressure was increased in 4.8 per cent and a prominent "a" wave greater than 10 mm Hg was present in 10.9 per cent. The right ventricular end-diastolic pressure was increased in 23.8 per cent and the left ventricular end-diastolic pressure in 25.9 per cent of the patients.     

Impact of two-dimensional and Doppler echocardiography on care of children aged two years and younger

To determine the impact of 2-dimensional (2-D) and Doppler echocardiography on the care of children aged 2 years and younger with suspected cardiac disease, the clinical management and outcome for the years 1975 (pre-2-D/Doppler era, 161 patients) and 1985 (2-D/Doppler era, 206 patients) were compared. Differences were: (1) decreased catheterization at our institution (48% vs 21%, p less than 0.0001); (2) trend toward decreased recatheterization of patients with referral catheterization (62% vs 38%, p = 0.08); (3) increased operation without preoperative catheterization (10% vs 37%, p less than 0.001); and (4) decreased preoperative catheterization for 7 anomalies (patent ductus arteriosus, ventricular septal defect, atrial septal defect, atrioventricular canal, aortic stenosis, tetralogy of Fallot and complete transposition of great arteries). Operative mortality rates were not statistically different in the years compared. Also, the operative mortality rates in 1985 for patients with and without preoperative catheterization were not statistically different. In 1975, cardiac catheterization changed the primary clinical diagnosis in 21%. In 1985, the primary diagnosis was not changed by catheterization; however, 2-D and Doppler echocardiography changed the diagnosis in 18%. The change in utilization of cardiac catheterization appears to be most closely related to the maximal utilization of a substitute imaging and hemodynamic modality--namely, 2-D and Doppler echocardiography.     

Two-dimensional echocardiographic identification of hemitruncus: Anomalous origin of one pulmonary artery from ascending aorta with the other pulmonary artery arising normally from right ventricle

Two-dimensional echocardiography (2DE) was performed on a 2300 gm newborn who presented with congestive heart failure. Clinical examination suggested left-to-right shunt with pulmonary hypertension. Cardiac catheterization and angiography demonstrated origin of the right pulmonary artery (RPA) from the aorta. Retrospectively, this feature (anomalous RPA) had been present on 2DE. A second patient aged 2 years had evidence of ventricular septal defect with large left-to-right shunt early in life. Gradual development of infundibular stenosis and clinical cyanosis ensued. 2DE showed subaortic ventricular septal defect with infundibular stenosis. Cardiac catheterization and angiography confirmed tetralogy of Fallot with origin of the left pulmonary artery (LPA) from the aorta. Retrospective review of 2DE showed the anomalous LPA arising from the side of the ascending aorta.     

Clinical and morphologic features of perimembranous ventricular septal defect with overriding of the aorta--the so-called Eisenmenger ventricular septal defect. A study making comparisons with tetralogy of Fallot and perimembranous ventricular defect without aortic overriding

The aim of our study was to elucidate the clinical and morphologic features of those perimembranous ventricular septal defects which extend between the ventricular outlets, particularly when found in association with anterior deviation of the muscular outlet septum and overriding of the aorta--the so called Eisenmenger ventricular septal defect. From 1990 through 1998, we have undertaken surgical correction in 203 patients with perimembranous ventricular septal defect. Of these, 15 patients had the Eisenmenger ventricular septal defect. We conducted retrospective analyses of the clinical records, catheterization data, and angiocardiographic and echocardiographic finding of these patients. Comparative studies were then made with the patients having tetralogy of Fallot, and those with simple perimembranous ventricular septal defects without overriding of the aorta. In the patients with the Eisenmenger ventricular septal defect, the extent of anterior deviation of the outlet septum was comparable with that seen in tetralogy of Fallot, but there was less rightward displacement of the aortic valvar orifice. In contrast to earlier investigators, however, we found evidence of progressive narrowing of the subpulmonary infundibulum in those with the Eisenmenger defect. These morphological features were reflected in the clinical features, since all patients showed evidence of increased pulmonary flow and congestive heart failure in early infancy, but with two-thirds of them subsequently developing right-to-left shunting. We conclude, therefore, that the Eisenmenger ventricular septal defect is a discrete cardiac abnormality in which the morphologic substrate of anterior deviation of the outlet septum gives rise to a potential for progressive narrowing of the subpulmonary infundibulum. Surgical management, therefore, needs to take account of such narrowing as an additional cardinal morphologic feature.     

Unrepaired Tetralogy of Fallot with Major Aortopulmonary Collateral Arteries in an Adult Patient

Tetralogy of Fallot is characterized by a ventricular septal defect, a large, overriding aorta, subpulmonic stenosis, and right ventricular hypertrophy. These lesions can be associated with abnormal development of the pulmonary vasculature. This can include peripheral pulmonic stenosis, discontinuous pulmonary arteries, anomalous pulmonary venous return, and the development of aortopulmonary collateral vessels. Aortopulmonary collateral vessels develop to supply underperfused areas of the pulmonary bed and pose a unique and challenging problem at the time of surgical repair, which involves closure of the ventricular septal defect, relief of right ventricular outflow tract obstruction, maintenance of pulmonary valve competency when possible, and establishment of laminar pulmonary blood flow to all segments of the pulmonary bed. We describe a 36‐year‐old man with unrepaired tetralogy of Fallot with distinctive aortopulmonary collaterals, who underwent complete surgical repair with good outcome. Two‐dimensional echocardiogram, cardiac magnetic resonance imaging, and cardiac catheterization each provided vital details allowing a stepwise approach to defining his unique anatomy for surgical correction.     

干下型室间隔缺损法乐氏四联症20例临床分析

本文对253例法乐氏四联症中20例(7.9%)室间隔缺损位于肺动脉瓣下者的临床资料及手术结果分析表明,本组患者临床上紫绀多偏轻;B型超声心动图及心室造影显示,右心室流出道较宽,肺动脉发育不良亦少见。但绝大多数病例需补片加宽右室流出道或跨环补片,否则术后易残留右心排血受阻。     

Etiologic relations among categories of congenital heart malformations.

Pairs of siblings with congenital heart malformations of different types were analyzed for evidence of nonrandom association of defects within families that might suggest a genetic predisposition common to two or more kinds of malformations. An excess of pairs was noted for tetralogy of Fallot and pulmonary stenosis, tetralogy of Fallot and transposition of the great vessels, and tetralogy of Fallot and ventricular septal defect, thus suggesting that there may be a developmental relation between these lesions. This finding is supported by a recent study in the Keeshond dog demonstrating a genetic predisposition common to tetralogy of Fallot, pulmonary stenosis and ventricular septal defect. Thus the method does seem capable of revealing etiologic relations, probably genetic, among different types of cardiac lesions. Data on risks of recurrence for siblings of children with these defects will now have to be refined to take into account the possible recurrence of related lesions.     

A case of unusual longevity of tetralogy of Fallot confirmed by cardiac catheterization.

We describe a 61-year-old woman with tetralogy of Fallot and dextrocardia with complete situs inversus. The functional status of this patient was New York Heart Association (NYHA) class II and the systemic blood pressure was 100/54 mmHg. The hematocrit was 54.4% and the arterial partial pressure of oxygen was 53 mmHg. On cardiac catheterization, both pulmonary valvular and infundibular stenoses were of equal severity and the aorta and main pulmonary artery were of equal size. We think that this patient has survived to this unusual age for tetralogy of Fallot because of unusually low systemic pressure and a proper balance between the ventricular septal defect and the pulmonary stenosis.     

Echocardiographic diagnosis of tetralogy of Fallot

The echocardiographic features of tetralogy of Fallot were defined in 25 patients with this malformation proved by cardiac catheterization. The echocardiographic characteristic that was present in all patients and that was most sensitive was the abrupt ending of the interventricular septal echoes with the aorta overriding the ventricular septal defect. The following additional echocardiographic features were frequently demonstrated in these 25 patients: right ventricular enlargement (20 patients), hypertrophy of the interventricular septum (20 patients), diminution of the right ventricular outflow tract (21 patients) and widening of the aorta (24 patients). The suggestion is made that the most specific echocardiographic pattern of tetralogy of Fallot is the finding of several echocardiographic abnormalities rather than the single feature of aortic overriding. Recognition of the altered anatomic relation coupled with a complete echocardiographic evaluation of all cardiac structures is a reliable means of diagnosing tetralogy of Fallot.     

Acquired obstruction of the ventricular septal defect in tetralogy of Fallot

The interventricular septal defect in patients with tetralogy of Fallot is, in most cases, a nonrestrictive malalignment type of defect. Rare examples of a restrictive defect have been described. We report a case of tetralogy of Fallot with pulmonic atresia in which the interventricular septal defect was found to be nonrestrictive at birth. The obstruction of the defect developed gradually, until, at the age of 6 years, a gradient of 55 mm Hg across the defect was found at repeat cardiac catheterization. Echocardiography proved that the acquired obstruction was due to excessive tricuspid valve tissue, while Doppler studies suggested a similar gradient between the right ventricle and the ascending aorta. This rare case should alert the clinician to the possibility of an acquired obstruction of the ventricular septal defect, with suprasystemic right ventricular pressure, in cases of tetralogy of Fallot, even if an early study suggested a nonobstructive defect. The diagnosis of this situation is of importance because of the poor prognosis which it carries.     

Atypical Fallot's tetralogy with doubly committed subarterial ventricular septal defect. Diagnostic value of 2-Dimensional echocardiography

Five patients with clinical features of tetralogy of Fallot had subarterial doubly committed ventricular septal defect (VSD) with absence or deficiency of the infundibular septum. Two-dimensional (2-D) echocardiography differentiated this special group from those with the usual Fallot's anatomy. In addition to the long-axis view of the left ventricle which showed the subaortic VSD and the aortic and mitral fibrous continuity, the short-axis view at the cardiac base clearly demonstrated the subpulmonary extension of the VSD in the atypical group. Two-dimensional echocardiography was found superior to biplane angiography, which in 3 patients suggested the erroneous diagnosis of double-outlet right ventricle with pulmonic valve stenosis. This variant form of Fallot's tetralogy poses special surgical problems.     

Accuracy of two-dimensional echocardiography in the diagnosis of congenital heart disease

To assess the accuracy of 2-dimensional (2-D) echocardiography in the evaluation of cardiac anatomy in patients with congenital heart disease, 2-D echocardiograms were performed in 126 infants and children before cardiac catheterization and angiocardiography. The segmental echocardiographic analysis included determination of intracardiac, great artery, systemic venous and pulmonary venous anatomy. The 126 patients had 259 separate cardiovascular abnormalities, of which 226 (87%) were prospectively identified by 2-D echocardiography. There were 8 false-positive diagnoses. The most common lesions and the sensitivity and specificity of echocardiography were: patent ductus arteriosus, 41 patients (83% and 100%, respectively), ventricular septal defect, 35 patients (86% and 100%); atrial septal defect, 26 patients (85% and 99%); pulmonary valve stenosis, 25 patients (77% and 97%), transposition of the great arteries, 16 patients (100% and 100%); and total anomalous pulmonary venous connection, 14 patients (85% and 100%). Less common defects and their rate of detection included coarctation of the aorta, 10 of 12 patients; atrioventricular canal, 10 of 10 patients; tetralogy of Fallot, 10 of 10 patients; aortic valve stenosis 8 of 8 patients; right aortic arch, 8 of 8 patients; interrupted aortic arch, 4 of 4 patients; and unilateral pulmonary vein atresia, 0 of 1 patient. In 33 patients (26%), the errors in echocardiographic analysis were judged to have surgical importance. Most errors were the result of overlooking or misinterpreting data that had been appropriately recorded on videotape. Pulmonary valve stenosis and patent ductus arteriosus are the lesions most likely to be misdiagnosed by ultrasound studies relying on imaging alone.     

Double outlet right ventricle: clinical spectrum and prognosis.

Patients with double outlet right ventricle can be separated into four distinct groups. In the largest (Group III), patients have a subaortic ventricular septal defect and pulmonary stenosis and clinically resemble patients with tetralogy of Fallot. In the next largest group (Group I), patients have a subpulmonry ventricular septal defect and no pulmonary stenosis and clinically resemble children with D-transposition of the great arteries and a ventricular septal defect. These patients have a high rate of coarctation of the aorta leading to early congestive heart failure, and their overall prognosis is poor. In the next largest group (Group II), patients have a subaortic ventricular septal defect and no pulmonary stenosis. Their presentation is similar to that of children with a large ventricular septal defect and pulmonary hypertension. In the smallest group (Group IV), the ventricular septal defect is uncommitted. Survivors in this group also clinically resemble children with a large ventricular septal defect and pulmonary hypertension. When present, coarctation of the aorta and severe mitral valve abnormalities greatly influence the prognosis in double outlet right ventricle. Although the prevalence of associated cardiac abnormalities is large, asplenia, polysplenia, chromosomal abnormalities and other congenital noncardiac abnormalities occur in only 12.5% of patients with double outlet right ventricle.     

Mitral valve abnormalities in patients with right ventricular pressure overload. Analysis by real time cross sectional echocardiography

Abnormalities of the mitral valve in patients with pulmonary stenosis, tetralogy of Fallot, and pulmonary hypertension with right ventricular pressure overload were studied by real time cross sectional echocardiography. Dislocation of the anterior and posterior mitral leaflets at the coaptation zone in systole was present in 16 of 46 cases: nine of 11 (82%) cases of pulmonary hypertension, four of 20 (20%) cases of tetralogy of Fallot, and three of 15 (20%) cases of pulmonary stenosis. The incidence was highest in patients with pulmonary hypertension. In eight of the 16 patients with mitral valve lesions, mitral regurgitation was seen on left ventriculograms or cross sectional Doppler echocardiograms. The dislocation was located near the posteromedial commissure of the anterior mitral leaflet in all cases. These findings are similar to the mitral valve abnormalities seen in patients with secundum atrial septal defect, and therefore may be due to a common cause. No relation could be found between the left ventricular deformity index and the incidence of dislocation of the mitral leaflets. Thus, the reason why this mitral valve abnormality occurs in conditions with right ventricular pressure overload could not be established.