Corrected Transposition of the Great Arteries with Isolated Aortic Coarctation: In Utero Echocardiographic Diagnosis

Physiologically corrected transposition of the great arteries (cTGA), defined by discordant atrioventricular and ventriculoarterial connections, is an uncommon congenital cardiac malformation. It rarely exists without associated cardiac anomalies, the most common of which are ventricular septal defect, pulmonary outflow obstruction, tricuspid valve (systemic) deformity, and rhythm disturbances. Conversely, hypoplasia of the systemic ventricle and systemic inflow or outflow obstructions have seldom been reported, although their recognition may significantly influence surgical repair and the patient's prognosis. We report a case of cTGA with complete heart block, moderate hypoplasia of the systemic ventricle, and severe aortic coarctation that was echocardiographically diagnosed in utero at 30 weeks' gestation because of fetal growth retardation and persistent fetal bradycardia. After delivery the patient underwent epimyocardial pacemaker implantation and aortic coarctation repair at 2 weeks of age. Unfortunately, the patient died on the seventh postoperative day because of systemic ventricular hypertrophy. Although it is well known that fetal echocardiography may reliably diagnose uncommon congenital cardiac malformations, to the best of our knowledge, this paper represents the first reported case of antenatal diagnosis of this complex anomaly.     

Noninvasive evaluation of systolic pressures of pulmonary artery and right ventricle using contrast-enhanced doppler echocardiography: Comparative study using sonicated albumin or glucose solution

Evaluation of pulmonary arterial pressure is essential for the diagnosis and management of patients with congenital heart disease; it is usually done by cardiac catheterization. An alternative, noninvasive method may be clinically more useful. The purpose of this study was to assess the usefulness of the noninvasive determination of systolic pressure of the pulmonary artery and right ventricle by contrast-enhanced Doppler echocardiography. We selected 30 pediatric patients (28 with trivial or nonsignificant tricuspid regurgitant Doppler signals and 2 with significant tricuspid regurgitant Doppler signals) aged 2 months to 21 years. The flow velocity of tricuspid regurgitation was measured with continuous-wave Doppler of the right ventricular inflow view or left parasternal or apical four-chamber view before and after injection of two types of contrast medium (hand-agitated 5% glucose or sonicated albumin). The systolic pressure of the pulmonary artery was assessed as the estimated right ventricular systolic pressure (albumin method) minus the peak pressure gradient across the pulmonary valve (nonenhanced Doppler method). After injection of hand-agitated 5% glucose and sonicated albumin, trivial tricuspid regurgitation signals were enhanced in 25 of 28 patients (89%). In two patients, spectral envelopes were well defined enough to obtain the peak systolic velocity of the tricuspid regurgitation jet without contrast medium injection. Peak velocity was not altered by injection of contrast medium in these patients. There was significant correlation between the estimation by contrast-enhanced Doppler using hand-agitated 5% glucose and the cardiac catheterization measurement of the transtricuspid pressure gradient (r= 0.88). The transtricuspid pressure gradients obtained by continuous-wave Doppler during sonicated albumin enhancement corresponded closely to those measured by cardiac catheterization (r = 0.95). Pulmonary arterial and right ventricular systolic pressures measured by Doppler using sonicated albumin and those obtained by cardiac catheterization were highly correlated (right ventricle, r = 0.96; pulmonary artery, r = 0.95). In conclusion, this technique may be a valuable noninvasive method for determining accurate right ventricular and pulmonary arterial systolic pressures.     

Balloon Atrial Septostomy Under Two-Dimensional Echocardiographic Control: A New Outlook

Between January 1989 and February 1995 a group of 47 consecutive infants aged 31–180 days (mean 83.5 ± 48.8 days) with various cyanotic heart diseases and poor intracardiac mixing underwent balloon atrial septostomy (BAS) under two-dimensional (2D) echocardiographic control in the procedure room or intensive care unit. Diagnoses were 27 cases of transposition of the great arteries (TGA), 1 mitral atresia, 9 tricuspid atresia, 7 critical pulmonary stenosis with hypoplastic right ventricle, 3 pulmonary atresia with intact interventricular septum, and 1 total anomalous pulmonary venous return. A standard subcostal view was used mainly to delineate the interatrial septum and to guide the balloon catheter. The creating (tearing) of the atrial septal defect was seen clearly during the procedure, and the 2D echocardiographic imaging was helpful for assessing the adequacy of the BAS at the end of the procedure. The results were good (5–9 mm in diameter) with no significant complications. The 2D echocardiographic scans showed no significant changes in the created atrial hole sizes during the follow-up of 1–6 months. We conclude that BAS under 2D echocardiographic control can be performed successfully and safely in infants with cyanotic congenital heart disease up to 6 months of age. This method should be considered for palliation, avoidance of surgery, or allowing the patient to survive until an appropriate time for corrective surgery.     

Definition of inseparably fused ventricular myocardium in thoracopagus: Fetal echocardiographic utility and pathologic refinement

Summary Correlative echocardiographic and pathological findings in a thoracopagus with conjoined hearts are reported. One twin had tricuspid atresia with discordant atrioventricular connections and concordant ventriculoarterial connections. The morphologic right ventricle was hypoplastic and there was a large muscular ventricular septal defect. The other twin had hypoplasia of the mitral valve anulus and left ventricle with double-outlet right ventricle and pulmonary valve atresia. The tricuspid valve was severely insufficient in part because of a large orifice and redundant, elongated leaflets with abnormal chordal attachments. The left ventricles of these two twins shared a perforated common free wall with at least two large defects allowing mixing of the circulations at that level. Not all anatomic details were established conclusively by fetal echocardiography; however, sufficient diagnostic information was obtained to support a decision not to aggressively resuscitate these twins after elective cesarean delivery at 31 weeks' gestation.     

A case of severe Ebstein's anomaly with incompetent pulmonary valve

A case of Ebstein's anomaly with functional pulmonary atresia diagnosed in utero is presented. The diagnosis was confirmed by postnatal echocardiographic, angiographic, and postmortem pathologic findings. On echocardiography the septal leaflet of the tricuspid valve was displaced towards the right ventricular apex. The tricuspid valve was moderately regurgitant and the arterial duct was patent. Continuous wave or color Doppler revealed serious reduction in forward flow from right ventricle through the pulmonary arteries; however, massive pulmonary regurgitation was observed. Pulmonary circulation was dependent on the ductal flow due to functional pulmonary atresia. Angiography revealed the massively enlarged right atrium, the absence of forward flow through the tricuspid valve, transfer of contrast material through the atrial septal defect to the left atrium, and the retrograde inflow of the pulmonary arteries from the aorta via the patent arterial duct. Ebstein's anomaly accompanied by functional pulmonary atresia is very rare. The fetal and neonatal presentation of this anomaly is associated with poor outcome.     

Congenitally corrected transposition of the great arteries: clinical features,diagnosis and prognosis

Congenitally corrected transposition of the great vessels occurs rarely with an incidence of approximately 0.02 per 1000 live births. Two embryologic errors, atrioventricular discordance and ventriculo-arterial discordance, result in physiologically corrected blood flow. Although some patients may present without additional cardiac anomalies, commonly associated lesions include complete heart block, ventricular septal defect, pulmonary stenosis and tricuspid valve anatomic abnormalities which can result in tricuspid regurgitation. Distinguishing features of clinical presentation, physical exam, electrocardiogram and chest X-ray are detailed. Diagnosis can currently be made non-invasively by echocardiography, including fetal, transthoracic and transesophageal modalities. Cardiac catheterization carries a significant risk of the induction of temporary or permanent complete heart block and is therefore only indicated for hemodynamic, electrophysiologic and angiographic assessment of associated abnormalities in symptomatic individuals when surgical intervention is anticipated. Prognosis for patients with corrected transposition of the great vessels depends on the severity of associated lesions. Since the onset of complete heart block occurs at a rate of 2% per year, and arrhythmia-related deaths are not uncommon, early pacemaker placement is indicated. Concern regarding the ability of the right ventricle to function as the long-term systemic pump has led to the recent concept of double switch repair as opposed to intracardiac repair of associated lesions, particularly in those patients with systemic right ventricular failure and tricuspid regurgitation. Due to the complexity of this congenital heart defect, recommendations for intervention must remain highly individualized.     

Atrioventricular Septal Defect with Cor Triatriatum: Case Report and Review of the Literature

Atrioventricular septal defect with cor triatriatum is a rare combination, with only nine cases reported so far. Cor triatriatum, a potentially correctable cause of pulmonary arterial hypertension in atrioventricular septal defect patients, was missed in a few earlier case reports, leading to death and subsequent diagnosis at autopsy. We report the case of 3-year-old female child with this combination (partial atrioventricular septal defect with cor triatriatum) wherein the final diagnosis was made at cardiac catheterization. Successful surgical correction was performed.     

Double-Inlet and Double-Outlet Left Ventricle in Situs Inversus

Double-outlet left ventricle is a rare congenital cardiac malformation that has been traditionally difficult to diagnose accurately. We report a unique case of situs inversus totalis, L-loop, double-inlet left ventricle and double-outlet left ventricle with pulmonary stenosis, diagnosed mainly by transesophageal echocardiography and magnetic resonance imaging.     

Common Pulmonary Vein Atresia: A Diagnostic and Therapeutic Challenge

Following Doppler echocardiographic evaluation, a 16 hour-old infant underwent successful surgical repair of common pulmonary vein atresia. Investigations for prolonged postoperative ventilatory assistance, including cardiac catheterization and computerized tomography, led to a clinical diagnosis of associated pulmonary lymphangiectasia. Although this has caused continuing tachypnoea, at 16 months of age, he remains otherwise well but with an uncertain prognosis.     

Morphology of Tricuspid Valve in Pulmonary Atresia with Intact Ventricular Septum

Pulmonary atresia with intact ventricular septum (PAIVS) is a rare congenital cardiac anomaly that has been classified into two types: one is a more frequent type having dysplasia of tricuspid valve (TV) with a small annulus, underdeveloped right ventricle (RV) with a hypoplastic cavity and a hypertrophic wall; the other type has severe dysplasia of TV and dilatation of RV, right atrium (RA), and right atrioventricular junction with thinning of the RV wall. We performed a morphologic study on 11 autopsied hearts with PAIVS, giving particular emphasis to the variation of morphology of the TV. We could classify these hearts into 3 groups according to the degree of right ventricular development. In the first group of 7 cases (type I), the RVs were underdeveloped. Thick leaflets, restricted valve apparatus with short chordae, and small annuli were characteristics of the TV. In the second group of 3 cases (type II), the RVs showed marked enlargement of the cavity and thinning of the wall. The TV showed redundant, dysplastic, sail-like anterior leaflets, and the downward displacement of septal leaflet and/or posterior leaflet, which are the findings frequently observed in Ebstein's malformation. The RVs were dilated and with partially unguarded tricuspid orifice. The septal leaflet of the TV was dysplastic and, in two cases, the septal leaflet showed chordal structure at the upper surface facing the RA, which is a peculiar finding that has not been described in the literature. The remaining case was a heart with a moderately developed RV (type III). The TV showed mildly dysplastic appearance and we classify this as a separate type, because we could expect the best surgical results in this type. This type had optimal size of RV and the mildest degree of dysplasia of TV. In PAIVS, the morphology of TV correlates well with the type of the right ventricular development.     

Serial Pulsed Doppler Assessment of Pulmonary Artery Pressure in Very Low Birth-Weight Infants

We assessed pulmonary artery pressure (PAP) during the early neonatal period in very low birth-weight (VLBW) infants using serial echocardiographic measurements of the ratio of the pulmonary artery acceleration time to the right ventricular ejection time corrected by heart rate [AT:RVET(c)]. Eighty-four VLBW infants weighing less than 1500 g were examined using serial color Doppler echocardiography from 3 hours to day 7 after birth. The AT:RVET(c) of infants born after 30 weeks of gestation showed a rapid, significant increase during the early neonatal period, whereas those of the groups born at less than 30 weeks showed no significant increase before day 14. At 24 hours after birth, the AT:RVET(c) values of VLBW infants did not correlate well with either the ratio of the right preejection period to the right ventricular ejection time on M-mode echocardiography or the pressure gradient between the right ventricle and the right atrium, as estimated by tricuspid regurgitation on pulsed Doppler echocardiography. The AT:RVET(c) value for the chronic lung disease (CLD) group did not differ significantly from that for the oxygen-dependent group at any assessment point. During the early neonatal period, the AT:RVET(c) of VLBW infants, as calculated by pulsed Doppler echocardiography, differed with their gestational age and did not appear to correlate well with PAP. Our data also suggest that AT:RVET(c) values may not be a good predictor of the subsequent occurrence of CLD in VLBW infants.     

Doppler Echocardiography with Extended Transesophageal Atrial Pacing: Predicting the Efficacy of Permanent Atrial Pacing in the Patient with a Small Left Ventricle and Sinus Node Dysfunction

A 2100-g neonate underwent a two-ventricular surgical repair of a right ventricle-dominant unbalanced atrioventricular septal defect associated with the heterotaxy syndrome and sinus node dysfunction. Postoperative congestive heart failure persisted despite bradycardia management by temporary ventricular pacing. Spectral Doppler echocardiographic analysis of pulmonary venous inflow and aortic outflow patterns demonstrated significant improvement with transesophageal atrial pacing. Extended transesophageal pacing was performed for two days, resulting in dramatic clinical improvement. This is the first report of extended transesophageal atrial pacing complementing Doppler echocardiography predicting an improved outcome with permanent atrial pacing.     

Unguarded Mitral Orifice Associated with Discordant Atrioventricular Connection,Double-Outlet Right Ventricle,and Pulmonary Atresia

We report a case of unguarded mitral valve orifice in a newborn boy that was associated with mirror-image cardiac sidedness, ambiguous abdominal sidedness, discordant atrioventricular connection, double-outlet right ventricle, and pulmonary atresia.     

Balloon Dilatation of the Pulmonary Valve in a Patient with Pulmonary Atresia and Intact Ventricular Septum Using a Commercially Available Radiofrequency Catheter

Using a commercially available 5F deflectable radiofrequency catheter, we have succeeded in percutaneous valvotomy of an imperforate pulmonary valve and consecutive balloon dilatation in a baby with pulmonary atresia and intact ventricular septum. After the procedure, right ventricular systolic pressure fell from 125 mmHg to 65 mmHg, and right ventriculography demonstrated anterograde blood flow into the pulmonary arteries. There were no major complications. Doppler echocardiography at 1 year after the procedure demonstrated a pressure gradient across the pulmonary valve of 20 mmHg with mild pulmonary and tricuspid regurgitations.     

A case of double-outlet left ventricle with atrioventricular discordance

The clinical, echocardiographic and angiographic aspects of a four-month-old boy with double-outlet left ventricle, atrioventricular discordance, L-malposition of the great arteries, ventricular septal defect and pulmonary stenosis are described. Additionally, in this patient, the right arcus aorta and the ligament of ductus arteriosus caused anterior compression of the trachea. The anterior position of the morphological left ventricle is the most interesting feature.     

Boy:girl ratio in children born with different forms of cardiac malformation: A population-based study

Summary The boy: girl ratio was calculated for all live births with cardiac malformation in Bohemia (population 6.3 million) from 1977–1984. Complete coverage of all deceased children in Bohemia by necropsy and of all patients with heart disease by our center enabled us to collect reliable data. Of 4409 children born with a heart defect, there were 2296 boys and 2113 girls, a ratio of 1.09: 1. In the total population of 664,218 children born during the same period of time, the ratio was 1.06:1. A higher proportion of boys was found with double outlet right ventricle (2.68:1), hypoplastic left heart (2.25:1), transposition of the great arteries (2.11:1), aortic stenosis (1.95:1), pulmonary atresia (1.55:1), tricuspid atresia (1.45:1), coarctation of the aorta (1.30:1), and corrected transposition of the great arteries (1.25:1). There were significantly more girls than boys with persistent ductus arteriosus (1:1.66), Ebstein's anomaly of the tricuspid valve (1:1.57), truncus arteriosus (1:1.22), atrioventricular septal defect (1:1.17), and tetralogy of Fallot (1:1.12). The difference in sex prevalence in the remaining heart defects was less than 10%.     

Congenital Malformations of the Tricuspid Valve in Siblings

The occurrence of familial heart disease in association with tricuspid atresia is rare. The first reported instance of tricuspid atresia and Ebstein's anomaly in siblings is presented. The presence of these two distinct pathologic variants of tricuspid valve malformations in siblings suggests that these malformations result from a common abnormality occurring during the development of the inlet portion of the right ventricle.     

Right Ventricular Myocardial Sinusoidal–Coronary Artery Connections in Critical Pulmonary Valve Stenosis

Ventriculo-coronary arterial connections are frequently observed in pulmonary atresia with intact interventricular septum. Sustained right ventricular hypertension during cardiac morphogenesis is thought to be responsible for persistence of myocardial sinusoidal–coronary artery connections. Considering an unusual observation of ventriculo-coronary arterial connections in a patient with critical pulmonary valve stenosis, we speculate that sinusoidal connections in pulmonary atresia with intact ventricular septum occur not only because it is the only exit for blood from the blind right ventricle, but also because of intrinsic altered morphogenesis of the right ventricle myocardium.     

Congenitally Malformed Hearts from a Population of Children Undergoing Cardiac Transplantation: Comments on Sequential Segmental Analysis and Dissection

Our aim is to examine the types of cardiac malformations found in a population of children undergoing cardiac transplantation, and to discuss a method for examining cardiac explants based on intrinsic morphology. We describe in detail the congenital malformations found in 65 cardiac explants acquired from a population of children over a period of 15 years. The specimens were examined and diagnosed using the method of sequential segmental analysis. The most prevalent type of cardiac malformation was severe obstruction of the left heart (29.2%), followed by double-outlet right ventricle (15.4%), complete transposition (13.8%), hearts with left-hand ventricular topology (10.8%), ventricular septal defect(s) (9.2%), tricuspid valvar agenesis (4.6%), and tetralogy of Fallot (4.6%). These abnormalities accounted for 87.6% of the specimens studied. We also cataloged the extracardiac malformations found at autopsy in those patients who died despite the transplantation. Extracardiac malformations were identified in 10 of the 19 patients who came to autopsy. Three had heterotaxy syndrome with isomerism of the atrial appendages, one with right and two with left isomerism. Other anomalies included tracheoesophageal fistula, pulmonary sequestration, extrahepatic biliary atresia, duodenal atresia, choanal atresia, and vascular malformations. Our study shows that even the most complicated cardiac malformations can readily be diagnosed in an explanted heart using the segmental approach based on observed morphology. Received July 20, 1998; accepted July 15, 1999.     

The Abnormal Contralateral Atrioventricular Valve in Mitral and Tricuspid Atresia in Neonates: An Echocardiographic Study

Abnormalities of the mitral valve (MV) or the tricuspid valve (TV) morphology and/or function in patients with functional single ventricle may result in early morbidity and death. The purpose of this study was to determine the incidence of contralateral atrioventricular valve (AVV) pathologies in mitral valve atresia (MA) and tricuspid valve atresia (TA). We retrospectively reviewed the echocardiographic data of 50 neonates with MV and 20 with TA. Appearance of the papillary muscles, chordae tendinae, and valve leaflets was assessed. AVV regurgitation was semiquantitated by color-flow Doppler and the AVV annulus diameter was measured and indexed to body surface area. MV abnormalities were found in 9 of 20 (45%) of patients with TA. The MV was myxomatous in 9 patients, the leaflets were redundant in 5 patients, and prolapsing occurred in 4 patients. Mild regurgitation was found in 2 patients. In 18 of 20 (90%) patients MV annulus size was larger than 95% of predicted normal values. TV abnormalities were found in 12 of 50 (24%) patients with MA. The TV was myxomatous in 4 patients, prolapsing in 2, and redundant in 3, and moderate TV regurgitation was found in 3 patients. In 29 of 50 (58%) patients TV annulus size was larger than 95% of predicted normal values. Contralateral AVV abnormalities in tricuspid and mitral valve atresia are common and should be assessed carefully before surgical procedures.