Echocardiographic diagnosis of pulmonary atresia with intact interventricular septum and associated Ebstein anomaly

Pulmonary atresia with intact ventricular septum is an uncommon congenital cardiac anomaly which very often present varying degrees of downward displacement and dysplasia of the tricuspid valve. We describe a case of pulmonary atresia and intact ventricular septum associated with Ebstein's malformation of the tricuspid valve first diagnosed with echocardiography and confirmed by angiocardiography and anatomic studies.     

Coronary sinus type atrial septal defect in a child with pulmonary atresia and Ebstein's anomaly

At birth an infant was found to have an unusual series of abnormalities with a coronary sinus type atrial septal defect complicating pulmonary atresia with an intact ventricular septum and Ebstein's anomaly. The functionally important anomalies were diagnosed by echocardiography and cardiac catheterisation. The coronary sinus defect and Ebstein's anomaly were detected only at necropsy. Although only a single case, the features of this heart favour Bull's revised classification of pulmonary atresia.     

Pulmonary atresia with an intact septum: indications for the neonatal surgical treatment guided by 2-dimensional and Doppler echocardiography

Twelve neonates with pulmonary atresia and intact ventricular septum underwent surgical treatment based on two-dimensional and Doppler echocardiography. Ten patients with adequate morphology of the right ventricular outflow tract portion shown by means of two-dimensional echocardiography underwent pulmonary valvulotomy and systemic-to-pulmonary shunt. Two neonates with atresia of the right ventricular infundibulum on two-dimensional echocardiography underwent systemic-to-pulmonary artery shunt without valvulotomy. In all patients the qualitative and quantitative echocardiographic diagnosis was confirmed at surgery and/or with the subsequent angiocardiographic study. Two-dimensional and Doppler echocardiography is a precise diagnostic method for planning surgical treatment in neonates with pulmonary atresia and intact ventricular septum.     

Tricuspid atresia or severe stenosis with partial common atrioventricular canal: anatomic data, clinical profile and surgical considerations

The anatomic findings in 11 cases of tricuspid atresia and in two cases of severe tricuspid stenosis, both combined with partial common atrioventricular (AV) canal, are presented in detail. Twelve cases were documented by postmortem examination and the diagnosis was confirmed by echocardiography and surgical observation in the one living patient. Clinical data available in nine cases and cardiac catheterization data obtained in eight are included in this report. In three cases (23%)--two with tricuspid atresia and one with extreme tricuspid stenosis--the tricuspid valve and right ventricle exhibited characteristics seen in Ebstein's anomaly. In all 13 cases, the great arteries were normally related. The ventricular septal defect(s) in 10 (83%) of the 12 postmortem cases rapidly became smaller and this resulted in marked diminution of the pulmonary blood flow and severe hypoxia. Only three of the eight patients with available cardiac catheterization and angiocardiographic data showed the scooped-out appearance of the left ventricular septal surface characteristic of AV canal defects. By contrast, two-dimensional echocardiography, available in the three most recent cases, accurately demonstrated all the defects present and represents the diagnostic method of choice. Early surgical intervention to establish a systemic to pulmonary artery anastomosis is essential for survival. More definitive surgical treatment can be achieved later by an atriopulmonary or cavopulmonary anastomosis with or without replacement of the cleft and often regurgitant mitral valve. The one living patient exemplifies this approach. This is the largest series of this unusual type of tricuspid atresia reported to date.     

Congenital hypoplasia of right ventricular myocardium (Uhl's anomaly) associated with pulmonary atresia in a newborn

A third case of congenital marked hypoplasia of the right ventricular myocardium (Uhl's anomaly) associated with pulmonary valvular atresia and absent tricuspid leaflets is reported. The anatomic differences between this disease, hypoplasia of the right ventricle and Ebstein's anomaly are discussed. During the neonatal period the clinical diagnosis is difficult. Malformations like tricuspid atresia, pulmonary atresia with intact ventricular septum and Ebstein's anomaly can all give almost the same clinical picture. The prognosis of the complete form of Uhl's anomaly remains poor.     

Severe tricuspid stenosis presenting as tricuspid atresia. Echocargraphic diagnosis and surgical management.

Two cases of pulmonary atresia with intact ventricular septum and severe tricuspid stenosis are described in which the initial angiographic diagnosis was tricuspid atresia and pulmonary atresia. Two dimensional echocardiography showed the features of an imperforate tricuspid valve because in each case contrast echocardiography failed to show anterograde flow from the right atrium to right ventricle. Successful radical surgical repair was achieved in one patient with performing a tricuspid valvotomy and inserting an external valved conduit between the hypoplastic right ventricle and the main pulmonary artery. In the second case, an infant died four weeks after tricuspid valvotomy and right ventricular outflow tract reconstruction.     

Formalin infiltration of ductus arteriosus in cyanotic congenital heart disease.

Formalin infiltration of the ductus arteriosus was performed in 13 neonates with pulmonary atresia (three with ventricular septal defect, two with tricuspid atresia, and eight with intact ventricular septum, one of whom had Ebstein's anomaly) in an attempt to maintain duct patency. Nine patients had an additional retrograde pulmonary valvotomy and one a Blalock-Taussig shunt. The mean preoperative systemic PO2 was 31 mmHg and rose significantly to 46 mmHg after operation. However, the PO2 rose in only two of the four patients who had formalin infiltration alone. There were five early deaths and three had clinical evidence of duct closure. Four patients needed further surgery (systemic-pulmonary artery shunt) within eight days. Seven of eight surviving patients were shown to have a closed duct at repeat cardiac catheterisation (two to 13 months after operation). The eighth died before restudy. There were four late deaths, one following late reoperation and the other three within five months of early reoperation. These results suggest that formalin infiltration cannot ensure long-term duct patency. As short-term patency can be maintained more reliably by prostaglandin administration, we have abandoned the operation.     

Differentiation of functional and structural pulmonary atresia: Role of aortography

Among certain critically ill neonates with severe tricuspid regurgitation, including those with Ebstein's anomaly of the tricuspid valve, tricuspid valve dysplasia, transient tricuspid regurgitation of the newborn, Uhl's anomaly and hypoplasia of the right ventricle, selective right ventriculography may not distinguish between patients with associated functional and those with structural pulmonary atresia. In patients with a normal pulmonary valve and infundibulum, functional obstruction (nonvisualization of the pulmonary artery on right ventricular angiography when the pulmonary valve is anatomically patent and nonobstructive) results from a combination of massive tricuspid insufficiency and increased perinatal pulmonary vascular resistance. This differentiation between functional and structural pulmonary atresia is essential because of the therapeutic implications.In 33 neonates studied at cardiac catheterization from January 1974 through October 1977 standard hemodynamic measurements and right ventriculograms could not distinguish between functional and structural pulmonary atresia. Retrograde aortography, in the presence of a patent ductus arteriosus, provided excellent visualization of the pulmonary root and valve in these cases and, without exception, pulmonary regurgitation across the valve was observed in the patients with functional pulmonary atresia. Usually, the amount of regurgitated contrast material was dense and both the right ventricle and the right atrium were opacified. In addition, among the patients with functional pulmonary atresia, the pulmonary root and valve appeared wider and more patulous than in the patients with structural pulmonary atresia and normal or mildly increased right ventricular pressure was appreciated.     

室间隔完整型肺动脉闭锁的彩色多普勒超声诊断

目的 探讨室间隔完整型肺动脉闭锁（PAIVS）的超声影像特点.方法 回顾分析7例PAIVS的超声心动图表现,并与外科手术结果进行比较.结果 PAIVS的超声心动图特征明显：（1）二维超声心动图胸骨旁左心室长轴切面显示室间隔回声完整.（2）心尖四腔切面显示2个心房正位,室间隔回声完整.（3）胸骨旁大动脉短轴切面显示2条大动脉位置关系正常,肺动脉瓣无开放运动,肺动脉瓣无血流信号通过.手术证实7例PAIVS中肺血由未闭的动脉导管供应者6例;主肺动脉及分支发育不良,仅有体肺动脉侧支供应肺血者1例.心房水平右向左分流者7例：其中5例为卵圆孔未闭,2例为房间隔缺损.合并畸形包括三尖瓣闭锁,三尖瓣发育不良伴狭窄、房间隔膨凸瘤等.结论 PAIVS患儿肺血来源多样化,肺动脉发育程度不一,超声心动图特征明显,对PAIVS有特异性诊断价值.     

Initial and late results after catheter intervention for neonatal critical pulmonary valve stenosis and atresia with intact ventricular septum: a technique in continual evolution.

Critical pulmonary valve stenosis or atresia with intact ventricular septum is a rare congenital cardiac defect that can be technically difficult to alleviate in the catheterization laboratory. Over the past 10 years, several techniques and modifications with variable results have been advocated to facilitate the valvuloplasty procedure. This report describes a single operator's experience using various techniques in 28 neonates with critical pulmonary stenosis or atresia who were considered candidates for transcatheter intervention. The first two patients underwent a gradational balloon valvuloplasty approach that resulted in prolonged fluoroscopy exposure. Thereafter, a "snare assisted" umbilical artery approach was developed which facilitated the valvuloplasty procedure and resulted in significantly fewer balloons used and shorter fluoroscopy times. Early in our experience, stiff guidewire perforation of atretic pulmonary valves was used, whereas in our last two patients, a simplified perforation technique with a new 0.9-mm excimer laser catheter was used. Late echocardiographic and clinical follow-up evaluation in 27 patients demonstrates persistent gradient relief, resolution of tricuspid valve insufficiency, and elimination of right to left shunting at the atrial level. Balloon valvuloplasty is the treatment of choice for critical pulmonary valve stenosis or atresia with intact ventricular septum. When necessary, the use of umbilical artery "snare assistance" facilitates the valvuloplasty technique and shortens procedure time while laser perforation is currently preferable for perforation of the atretic pulmonary valve.     

Congenital pulmonary atresia with tricuspid insufficiency: Morphologic study

In an anatomic study of 21 cases of pulmonary atresia with tricuspid insufficiency (pulmonary atresia with intact ventricular septum, type II), the morphologic features of the tricuspid valve and the right ventricle were found to differ greatly from those seen in pulmonary atresia with tricuspid stenosis (pulmonary atresia with intact ventricular septum, type I). Morphologically, pulmonary atresia with tricuspid insufficiency (type II) has a greater resemblance to Ebstein's disease with pulmonary atresia than to type I pulmonary atresia. The anomaly may be more amenable to surgery than pulmonary atresia with tricuspid stenosis because the right ventricle in the former may be converted into a functional chamber by a valvotomy combined with a shunting procedure and atrial septostomy.     

Echocardiographic findings in Uhl's anomaly. Demonstration of diastolic pulmonary valve opening.

The echocardiographic findings in a case of Uhl's anomaly, or congenital hypoplasia of the right ventricular myocardium, are reported. Diastolic opening of the pulmonary valve is described. Comparison is made with echocardiograms in Ebstein's disease of the tricuspid valve, and it is suggested that echocardiography can help in differentiating these two entities. In addition to the pulmonary valve finding, increased right ventricular dimension, delayed tricuspid closure and abnormality (prolapse) of the mitral valve were noted. The echocardiographic findings are compared with cardiac catheterization data.     

Doppler echocardiographic evaluation of pulmonary artery flow after modified Fontan operation: importance of atrial contraction.

Doppler echocardiography was used to evaluate blood flow in the pulmonary artery in 14 patients 2 to 42 months (mean (SD) 17 (12) months) after a modified Fontan operation incorporating a direct atriopulmonary anastomosis. Preoperatively six patients had tricuspid atresia, six had a double inlet left ventricle, and two had pulmonary atresia with an intact ventricular septum. The postoperative rhythm was sinus in 11 patients, junctional in one, ventricular pacing in one, and atrioventricular sequential pacing in one. In one patient the Doppler trace was unsatisfactory for analysis. In all patients forward flow in the pulmonary artery had biphasic peaks related to both atrial and ventricular contraction. The mean (SD) peak flow velocity that was synchronous with atrial contraction was 80 (30) cm/s and that synchronous with ventricular contraction was 74 (23) cm/s. The atrial contribution to total pulmonary artery flow, assessed by velocity-time integrals, varied between 22% and 73% (mean (SD) 45 (14)%). In patients with tricuspid atresia the mean (SD) peak flow velocity with atrial contraction was 90 (27) cm/s and that with ventricular contraction was mean (SD) 68 (24) cm/s. In patients with double inlet left ventricle the mean (SD) peak flow velocity was 67 (36) cm/s with atrial contraction and 80 (25) cm/s with ventricular contraction. The atrial contribution to total pulmonary blood flow in patients with tricuspid atresia was significantly higher (53 (11)%) than in those with double inlet left ventricle (37 (14)%). Pulmonary artery flow after modified Fontan operation was biphasic and was related to both atrial and ventricular contraction. The atrial contribution to pulmonary blood flow is greater in patients with tricuspid atresia than in those with a double inlet left ventricle. The mechanism of the second peak related to ventricular contraction is unknown.     

Doppler echocardiographic evaluation of pulmonary artery flow after modified Fontan operation: importance of atrial contraction

Doppler echocardiography was used to evaluate blood flow in the pulmonary artery in 14 patients 2 to 42 months (mean (SD) 17 (12) months) after a modified Fontan operation incorporating a direct atriopulmonary anastomosis. Preoperatively six patients had tricuspid atresia, six had a double inlet left ventricle, and two had pulmonary atresia with an intact ventricular septum. The postoperative rhythm was sinus in 11 patients, junctional in one, ventricular pacing in one, and atrioventricular sequential pacing in one. In one patient the Doppler trace was unsatisfactory for analysis. In all patients forward flow in the pulmonary artery had biphasic peaks related to both atrial and ventricular contraction. The mean (SD) peak flow velocity that was synchronous with atrial contraction was 80 (30) cm/s and that synchronous with ventricular contraction was 74 (23) cm/s. The atrial contribution to total pulmonary artery flow, assessed by velocity-time integrals, varied between 22% and 73% (mean (SD) 45 (14)%). In patients with tricuspid atresia the mean (SD) peak flow velocity with atrial contraction was 90 (27) cm/s and that with ventricular contraction was mean (SD) 68 (24) cm/s. In patients with double inlet left ventricle the mean (SD) peak flow velocity was 67 (36) cm/s with atrial contraction and 80 (25) cm/s with ventricular contraction. The atrial contribution to total pulmonary blood flow in patients with tricuspid atresia was significantly higher (53 (11)%) than in those with double inlet left ventricle (37 (14)%). Pulmonary artery flow after modified Fontan operation was biphasic and was related to both atrial and ventricular contraction. The atrial contribution to pulmonary blood flow is greater in patients with tricuspid atresia than in those with a double inlet left ventricle. The mechanism of the second peak related to ventricular contraction is unknown.     

Echocardiographic and Doppler study of pulmonary atresia with an intact interventricular septum

Pulmonary atresia with intact ventricular septum represents a congenital cardiac lesion for which the prognosis depends on the patency of the ductus arteriosus. Nine children with pulmonary atresia and intact ventricular septum underwent echocardiographic studies before cardiac catheterization trying to visualize the anatomy of the outflow tract of the right ventricle, the dimension of the ventricular cavity, the characteristics of the tricuspid valve and finally the size and integrity of the interventricular septum. Using Doppler ultrasound it was possible to evaluate the function of the tricuspid valve and the patency of the ductus arteriosus. The results obtained were correlated with the angiographic and anatomic studies. We concluded that noninvasive assessment of this malformation permits an excellent correlation with the angiographic and anatomic studies.     

Diagnosis of atrial septal defect using magnetic resonance imaging

We studied the morphological features of defects of the interatrial septum using magnetic resonance imaging (MRI) to determine the sizes of defects and other abnormalities. MR images were obtained in 28 patients with atrial septal defect, including five cases with complicated anomalies (two with Ebstein's anomaly, one pentalogy of Fallot, and one anomalous pulmonary vein connection and azygos continuation). Images were also obtained in the control subjects including seven normal volunteers and 142 patients with various acquired heart diseases. The diagnosis of atrial septal defect was established by cardiac catheterization, angiography and two-dimensional echocardiography prior to the MRI studies, and in 14 patients, the diagnosis was confirmed by surgery. The MRI unit had a superconducting magnet and operated at 0.25 or 0.50 Tesla. A spin echo pulse sequence was used with an echo time of 40 or 60 msec. At the beginning of this study, non-gated MRI images were obtained in the 28 controls and in three patients with atrial septal defect. Nongated MRI could not image the anatomical structure of the interatrial septa of 12 of the 28 controls, or any of the three patients with atrial septal defect. Nongated MRI was, therefore, inadequate for visualizing cardiac anatomy. Gated MRI images were obtained in 141 controls and in 25 patients with atrial septal defect. Gated MRI revealed the interatrial septum, interventricular septum, atrioventricular septum, mitral valve, tricuspid valve and other intracardiac structures in most subjects. In 17 control subjects (12%), however, there was a very faint signal from the central portion of the interatrial septum. In these instances, there was a gradual fading of the signal of the interatrial septum, so that they could be distinguished from the atrial septal defect. The sudden disappearance of the signal from the interatrial septum was observed by gated MRI in all 25 patients with atrial septal defect. The sizes of the defects by MRI coincided with the findings at surgery in all 14 patients. MRI showed right atrial dilatation, right ventricular hypertrophy and dilatation, and pulmonary artery dilatation in most of the patients having atrial septal defect. Complex anomalies associated with atrial septal defect were also clearly shown by MRI, such as displacement of the tricuspid leaflets in two patients with Ebstein's anomaly, and anomalous pulmonary venous connection and persistent left superior vena cava in one patient. These results indicated that gated MRI is a valuable noninvasive method of diagnosing atrial septal defect and complicating anomalies.     

Two-dimensional echocardiographic assessment of dextrocardia: A segmental approach

Two-dimensional echocardiography was used in the prospective evaluation of 40 patients with the clinical diagnosis of dextrocardia. A segmental analysis of the situs, connections, ventricular anatomy, and chamber positions was utilized for a complete diagnostic assessment. An adequate examination was possible in 33 of these patients; the findings were confirmed by cardiac catheterization and angiography in 31 patients and at operation in 26.

Use of the location of the liver and the drainage of the hepatic veins and inferior vena cava allowed atrial visceral situs to be defined in 33 patients (solitus 21, inversus 9, and ambiguous 3). Pulmonary venous connections were correctly identified in 27. In 33 patients, atrioventricular (AV) and ventriculoarterial connections and ventricular anatomy were correctly predicted. Twenty patients had 2 separate well-developed ventricles. Ventriculoarterial connections were determined correctly in all 20 patients: concordant in 5, discordant in 6, double-outlet right ventricle in 5, and single-outlet right ventricle (pulmonary atresia) in 4. In 16 patients a ventricular septal defect was correctly identified. In the remainder the ventricular septum was intact.

Thirteen patients had univentricular heart: 8 had 2 AV valves (double-inlet ventricle), 3 had common AV inlet, and 2 had atresia of 1 AV connection.

Two-dimensional echocardiography allowed the accurate assessment of complex congenital heart defects associated with dextrocardia. Utilizing a segmental approach, one can correctly predict atrial-visceral situs, ventricular morphology and situs, and AV and ventriculoarterial connections.     

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.     

Diagnosis and natural history of Ebstein's anomaly

Thirty five cases of Ebstein's anomaly were diagnosed by cardiac catheter study or echocardiography between 1962 and 1984. The anomaly was an isolated abnormality in 27 patients; the remainder had additional heart lesions. Six patients have died and four of these had other cardiac lesions. Thirteen are currently symptom free. Twelve cases presented with cyanosis and heart murmur on the first day of life. Eight of these had associated thrill which is a rare finding in neonates. As pulmonary vascular resistance fell there was clinical improvement. This was assisted by oxygen treatment. Another two cases presented in the first week of life and 10 in the first decade with a murmur or supraventricular tachycardia. Eleven cases presented as adolescents or adults with a murmur, cardiomegaly, or cardiac symptoms. Three patients were seen initially in the sixth decade. Clinical diagnosis was correct in only one adult. Twenty five patients had cardiac catheterisation. Important arrhythmias occurred in 10 cases, and two required cardioversion. Difficulty was experienced in entering the pulmonary artery in 11 infants and children. Diagnosis at initial catheter study was incorrect in four patients. Echocardiograms were recorded in 29 cases. Earlier M mode measurements of time delay of tricuspid closure compared with mitral closure did not always lead to the correct diagnosis. Cross sectional studies gave good images of tricuspid leaflet displacement, its tethering, and the atrialised portion of the right ventricle and have facilitated the diagnosis of more cases in recent years. Echocardiography is the procedure of choice for diagnosis of Ebstein's anomaly.     

Diagnosis and natural history of Ebstein's anomaly.

Thirty five cases of Ebstein's anomaly were diagnosed by cardiac catheter study or echocardiography between 1962 and 1984. The anomaly was an isolated abnormality in 27 patients; the remainder had additional heart lesions. Six patients have died and four of these had other cardiac lesions. Thirteen are currently symptom free. Twelve cases presented with cyanosis and heart murmur on the first day of life. Eight of these had associated thrill which is a rare finding in neonates. As pulmonary vascular resistance fell there was clinical improvement. This was assisted by oxygen treatment. Another two cases presented in the first week of life and 10 in the first decade with a murmur or supraventricular tachycardia. Eleven cases presented as adolescents or adults with a murmur, cardiomegaly, or cardiac symptoms. Three patients were seen initially in the sixth decade. Clinical diagnosis was correct in only one adult. Twenty five patients had cardiac catheterisation. Important arrhythmias occurred in 10 cases, and two required cardioversion. Difficulty was experienced in entering the pulmonary artery in 11 infants and children. Diagnosis at initial catheter study was incorrect in four patients. Echocardiograms were recorded in 29 cases. Earlier M mode measurements of time delay of tricuspid closure compared with mitral closure did not always lead to the correct diagnosis. Cross sectional studies gave good images of tricuspid leaflet displacement, its tethering, and the atrialised portion of the right ventricle and have facilitated the diagnosis of more cases in recent years. Echocardiography is the procedure of choice for diagnosis of Ebstein's anomaly.