Studying electric field effects on embryonic myocytes

OBJECTIVE: Little attention has been paid to the occurrence of aortic regurgitation after complete repair in patients with pulmonary atresia and ventricular septal defect or tetralogy of Fallot. To highlight the development of aortic regurgitation or aortic root dilation severe enough to necessitate aortic valve replacement with or without aortic aneurysmorrhaphy or aortic root replacement, we retrospectively reviewed the records of patients who underwent aortic valve operation at our institution subsequent to repair of pulmonary atresia and ventricular septal defect or tetralogy of Fallot. METHODS: We searched the Mayo Clinic database for patients with pulmonary atresia and ventricular septal defect or tetralogy of Fallot who subsequently had aortic valve or aortic root operations. The degree of aortic regurgitation before operation was noted. Aortic sinus and root dimensions were measured. RESULTS: Sixteen patients underwent complete repair at a median age of 17 years, followed by an aortic operation a median of 13.5 years later. All 16 patients had dilated aortic sinuses at the time of the aortic valve operation. These 16 patients had aortic valve replacement: 11 with mechanical prostheses and 5 with bioprostheses. Five of the 16 also had reduction of aortic dilation by lateral aneurysmorrhaphy, and 1 had graft replacement of the ascending aorta. Five patients had associated conditions (evidence of valvular damage, recurrent ventricular septal defect, or history of endocarditis) discovered at the aortic valve operation that have been reported to be related to the development of aortic regurgitation. The remaining 11 patients had progressive aortic regurgitation despite complete, uncomplicated repair. CONCLUSIONS: Progressive aortic regurgitation and aortic root dilation can occur despite complete repair of pulmonary atresia and ventricular septal defect or tetralogy of Fallot.     

Progression of Alzheimer histopathological changes

OBJECTIVE: To describe the morphology of the pulmonary arteries in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries with and without monosomy 22q11. DESIGN: A retrospective analysis of all patients with this congenital heart defect who are being followed at the University Children's Hospital Erlangen. SETTING: A tertiary referral centre for paediatric cardiology and paediatric cardiac surgery. PATIENTS: 21 patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Monosomy 22q11 was diagnosed by fluorescent in situ hybridisation using the D22S75 probe (Oncor). The morphology of the pulmonary arteries was assessed on the basis of selective angiograms. RESULTS: 10 patients (48%) were shown to have a microdeletion in 22q11 (group I). There was no difference with respect to the presence of confluent central pulmonary arteries between these patients (80%) and the remaining 11 patients (group II) without monosomy 22q11 (91%). Patients of group I, however, more often had arborisation anomalies of the pulmonary vascular bed (90% in group I v 27% in group II). Because of the more severe abnormalities of the pulmonary arteries, a biventricular repair had not been possible in any of the children with monosomy 22q11, though repair had been carried out in 64% of the children in group II. CONCLUSION: The developmental disturbance caused by the monosomy 22q11 seems to impair the connection of the peripheral pulmonary artery segments to the central pulmonary arteries in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries, resulting in a lower probability of biventricular repair.     

Utility of psychophysiological measurement in the diagnosis of posttraumatic stress disorder: results from a Department of Veterans Affairs Cooperative Study

OBJECTIVE: Predicting postrepair right ventricular/left ventricular pressure ratio has prognostic relevance for patients undergoing total repair of pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. To this purpose, we currently rely on 2 novel parameters: (1) preoperative total neopulmonary arterial index and (2) mean pulmonary artery pressure changes during an intraoperative flow study. METHODS: Since January 1994, 15 consecutive patients (aged 64 +/- 54 months) with pulmonary atresia, ventricular septal defect, and major aortopulmonary collaterals were managed according to total neopulmonary arterial index. Seven patients with hypoplastic pulmonary arteries and a total neopulmonary arterial index less than 150 mm(2)/m(2) underwent palliative right ventricular outflow tract reconstruction followed by secondary 1-stage unifocalization and ventricular septal defect closure. The other 8 patients with a preoperative index of more than 150 mm(2)/m(2) underwent primary single-stage unifocalization and repair. The ventricular septal defect was closed in all cases (reopened in 1). In 9, such decision was based on an intraoperative flow study. RESULTS: Patients treated by right ventricular outflow tract reconstruction had a significant increase of pulmonary artery index (P=.006) within 22 +/- 6 months. Repair was successful in 14 cases (postrepair right ventricular/left ventricular pressure ratio = 0.47 +/- 0.1). One hospital death occurred as a result of pulmonary vascular obstructive disease, despite a reassuring intraoperative flow study. Accuracy of this test in predicting the postrepair mean pulmonary artery pressure was 89% (95% CI: 51%-99%). At follow-up (18 +/- 12 months), all patients are free of symptoms, requiring no medications. CONCLUSIONS: The integrated approach to total repair of pulmonary atresia, ventricular septal defect, and major aortopulmonary collaterals by preoperative calculation of total neopulmonary arterial index, right ventricular outflow tract reconstruction (when required), and intraoperative flow study may lead to optimal intermediate results.     

Tooth enamel thickness in the mature dentition of domestic dogs and cats--preliminary study

Eleven patients underwent late repeated correction of tetralogy of Fallot in 1991-1993. The previous operation was repair of simple Fallot's tetralogy in seven cases, repair plus transannular patch in one case and repair of tetralogy and pulmonic atresia in three cases. The indications for reoperation were residual ventricular septal defect, right ventricular outflow tract (R.V.O.T.) obstraction, residual branch pulmonary artery stenosis, aneurysmal dilatation of R.V.O.T. Patch or combination of any of the above. At reoperation these defects were corrected. The post operative course was uneventful in eight patients. Two required mechanical ventilation for 2-3 days, and one underwent another operation for residual branch pulmonary artery stenosis. The functional and haemodynamic results were good in ten patients, and one had residual distal pulmonary artery stenosis. There were no death during 2 years of follow-up. Repeated correction of tetralogy of Fallot thus had low postoperative morbidity and good haemodynamic results. For the relatively few patients initially found to have tetralogy of Fallot and pulmonic atresia, the outcome may be less favorable.     

Primary repair is superior to initial palliation in children with atrioventricular septal defect and tetralogy of Fallot

OBJECTIVE:The objective was to explore the best management algorithm for atrioventricular septal defect in conjunction with tetralogy of Fallot. METHODS: We reviewed the cases of 38 children referred to our division (March 1981-August 1997) who had atrioventricular septal defect associated with tetralogy of Fallot; 32 (84%) had Down syndrome. Twenty-one received initial palliation with a systemic-to-pulmonary artery shunt; of these, 2 (9.5%) died before complete repair. Thirty-one children underwent complete repair; 14 of these (45%) had undergone initial palliation (mean age at shunt 20 +/- 24 months). Right ventricular outflow obstruction was relieved by a transannular patch in 22 (71%); 14 (64% of 22) had a monocuspid valve inserted. Four required an infundibular patch. RESULTS: Two children (6.4%) died early after repair; 1 had undergone previous palliation. Patients with palliation underwent repair at an older age (78 vs 36 months), required longer ventilatory support (8 vs 4 days) and inotropic support (8 vs 4 days), and had longer intensive care stays (11 vs 6 days) and hospital stays (24 vs 15 days). Eleven children (35%) underwent reoperation, 7 (58%) for right ventricular outflow reconstruction and pulmonary arterioplasty. Reoperation was more frequent in the palliation group than in the primary operation group (64% vs 12%). The single late death was related to a reoperation in the palliation group. CONCLUSIONS: Atrioventricular septal defect with tetralogy of Fallot can be repaired with a low mortality rate. Initial palliation with a shunt resulted in a more complex postoperative course and a higher reoperative rate. Primary repair is superior to initial palliation with later repair.     

Role of neutrophil elastase in stress-induced gastric mucosal injury in rats

To evaluate the growth of a pulmonary trunk reconstructed without an extracardiac conduit, the hemodynamics and diameter of a new pulmonary trunk were measured in 5 patients from the right ventriculogram and MRI at postoperative follow-up periods. There were tetralogy of Fallot with pulmonary atresia in two patients, tetralogy of Fallot with single coronary in one, truncus arteriosus type I in one and transposition of the great arteries with ventricular septal defect and pulmonary stenosis in one. The age at operation ranged from 26 days to 4.5 years. The posterior wall continuity of the right ventricle and pulmonary artery was established by the direct pulmonary-right ventricular anastomosis in three patients and by the interposition of the left atrial appendage in two. Postoperative follow-up periods ranged from 2 years and 6 months to 3 years and 10 months (median: 2 years and 11 months). In four of them, the postoperative right ventricular to aortic or left ventricular systolic pressure ratios were less than 0.4 without any significant systolic pressure gradients between pulmonary artery and right ventricle. In these four patients, the diameters of the reconstructed pulmonary trunks grew from 10-18 mm to 18-21 mm postoperatively. These diameters were more than 100% of normal values. In the remaining patient with tetralogy of Fallot and single coronary artery, the obstruction of the new pulmonary trunk by a bulged left atrial appendage, which was used as the posterior wall, was observed on the right ventricular outflow tract reconstruction without an extracardiac conduit has growth potential in the future.     

Monocusp homograft VSD patch in atrioventricular canal with tetralogy of Fallot

A monocusp aortic homograft was used to compensate for deficient right atrioventricular valve tissue during repair of complete atrioventricular canal defect with tetralogy of Fallot. The homograft was used to produce a comma-shaped ventricular septal defect patch together with the septal leaflet of the right atrioventricular valve, thus committing native leaflet tissue to left atrioventricular valve reconstruction. One year postoperatively the child is in New York Heart Association class I with no tricuspid regurgitation.     

The role of a bidirectional cavopulmonary anastomosis in the correction and palliation of complex congenital cardiopathies

Between May 1990 and January 1998, 68 patients underwent bidirectional cavo-pulmonary anastomosis. We evaluated all patients in whom the bidirectional cavo-pulmonary anastomosis was associated with additional pulmonary flow (group A) and those in whom it was associated with biventricular repair (group B). Group A included 23 patients (33.8%), 14 males and 9 females, mean age 25 years and 6 months (range 4 months-16 years). Diagnoses were double outlet right ventricle (6), univentricular heart (6), tricuspid atresia (5), congenitally-corrected transposition of the great arteries with ventricular septal defect and pulmonary stenosis (3), right isomerism (2) and pulmonary atresia with atrioventricular canal (1). Group B included 13 patients (19.1%), 6 males and 7 females, mean age 13 years and 7 months (range 1 year-37 years). Diagnoses were pulmonary atresia with intact ventricular septum (4), Ebstein's anomaly (3), tetralogy of Fallot (3), atrioventricular canal (1), hypoplastic right ventricle (1), and pulmonary and tricuspid insufficiency (1). Four patients (17.3%) in group A died in the postoperative period, whereas there was no postoperative mortality in group B. Follow-up data were available in 31 patients (19 from group A, 13 from group B). Mean follow-up was 1 year and 6 months (range 30 days to 6 years). Evaluation was done by NYHA class functional status. In group A, 14 patients are doing well (NYHA I or II), while five patients (26.3%) underwent Fontan operation with one death. All group B patients are currently doing well (NYHA class I or II). In group A, complications were pericardial effusion (7), transient superior vena cava syndrome (5), pleural effusion (4), chylothorax (1) and rhythm disturbance (1). Complications in group B involved neurological events (2), pleural effusion (1) and rhythm disturbance (1). Bidirectional cavo-pulmonary anastomosis can be associated with additional pulmonary flow with good short- and intermediate-term outcome. Concern remains for the ability to properly regulate the amount of effective pulmonary blood flow. Bidirectional cavo-pulmonary anastomosis can be associated with biventricular repair in patients with diminutive right ventricles, amenable to anatomic complete correction, with good clinical outcome.     

The clamshell approach for the surgical treatment of complex cardiopulmonary pathology in infants and children

BACKGROUND: The surgical approach to children with complex cardiovascular and pulmonary anomalies is still controversial. Staged operations through multiple incisions are often performed in this setting. OBJECTIVE: The different applications and clinical advantages of a bilateral thoracosternotomy approach to complex cardiothoracic disease requiring surgical repair were reviewed retrospectively. METHODS: Between January 1993 and June 1995, 33 patients, aged between 2 months and 17 years (mean 7.8 +/- 5.3) underwent surgical treatment of complex cardiovascular or pulmonary disease using a clamshell approach. Twenty-one patients (64%) had undergone 1-5 previous surgical procedures (mean 2.5 +/- 1.0/patient). The technique involved supine position placement, submammary incision, access to the pleural space bilaterally through the fourth intercostal space and transverse division of the sternal body. RESULTS: Four groups of patients were operated on via this approach: (1) patients undergoing lobar, lung or heart-lung transplantation (40%); (2) patients undergoing repair of tetralogy of Fallot/pulmonary atresia (36%); (3) patients with previously corrected miscellaneous procedures (12%), including completion of Fontan, one-stage repair of left main bronchial stenosis and atrial septal defect, one-stage repair of partial anomalous pulmonary venous connection and aortic coarctation, and repair of congenital pulmonary venous stenosis. There were two early (< 30 days) deaths, giving a perioperative mortality of 6% for the entire series. Complications included postoperative hemorrhage in 4 patients (12%), prolonged ventilation time due to mechanical failure in 4 (12%). There were no wound infections. Analysis of complications by group showed the lung transplant group to be more affected (18% of patients experienced complications). Except for 2 infants undergoing complete unifocalization and presently awaiting completion of repair of tetralogy of Fallot/pulmonary atresia, in the remaining 31 (94%) a definitive surgical treatment could be performed in one-stage. CONCLUSIONS: The bilateral thoracosternotomy allows optimal exposure of all intrathoracic anatomic structures making one-stage surgical repair possible in a variety of complex cardiovascular and pulmonary anomalies. Early mortality and technique-related morbidity do not differ from those reported with the conventional approaches to the different disease conditions. A wider application of the clamshell approach for the management of complex intrathoracic pathology in infants and children is advocated.     

Intraoperative discovery of neuroblastoma in an infant with pulmonary atresia

There have been 28 previously reported cases of neuroblastoma associated with congenital heart disease. Because many of these have been defects of the conotruncal region, it has been proposed that abnormal neural crest cell migration or maturation may be a factor that links these normally disparate pathologic conditions. Most neuroblastomas in these cases have been detected at autopsy or by radiologic studies conducted in the evaluation of the cardiac anomalies. Recently, we discovered an occult posterior mediastinal neuroblastoma in a patient undergoing a unifocalization procedure for tetralogy of Fallot with pulmonary atresia and major aortopulmonary collaterals. The tumor was resected, and the patient has demonstrated no evidence of residual or metastatic neuroblastoma.     

Atrial arrhythmias in adults after repair of tetralogy of Fallot. Correlations with clinical, exercise, and echocardiographic findings

BACKGROUND: The long-term success of intracardiac repair of tetralogy of Fallot is hampered by the occurrence of arrhythmias. Numerous studies have stressed the potential role of ventricular arrhythmias. However, the importance of other arrhythmias in the morbidity of these patients appears to be underestimated. Furthermore, most follow-up studies have been limited to children or adolescents, whereas many patients have reached adulthood after earlier repair of tetralogy of Fallot. The aim of the present study was to determine the incidence of atrial fibrillation, atrial flutter, and other supraventricular arrhythmias in adult patients after intracardiac repair for tetralogy of Fallot and their correlation with surgical and clinical findings. METHODS AND RESULTS: The study group consisted of 53 consecutive patients referred to the Thoraxcenter adult congenital heart disease clinic. They underwent repair at a mean age of 9.1 years (range, 0.7 to 55 years). The median age at the time of study was 23.2 years (range, 15 to 57 years; mean age, 26.6 years), and the mean duration of follow-up of 17.5 years (range, 1.4 to 32 years) after surgery. Records were reviewed extensively for evidence of arrhythmias. The follow-up study included routine 12-lead ECG, 24-hour continuous ambulatory monitoring, and echocardiography, and 46 patients underwent exercise testing. Sinus node dysfunction was recorded in 19 patients (36%), of whom 4 required a permanent pacemaker. Atrial fibrillation or flutter was found in 12 patients, and other supraventricular tachycardias were found in 6. The former were more frequently of older age at follow-up. Antiarrhythmic therapy and cardioversion were typically directed at control of atrial (and not ventricular) tachyarrhythmias. Ten patients (19%) showed nonsustained ventricular tachycardia; they were older at initial surgery and older at follow-up and had more intracardiac repairs and longer cardiopulmonary bypass times. CONCLUSIONS: Despite an emphasis on ventricular ectopy in past series, the main sources of morbidity in adult patients after surgical correction of tetralogy of Fallot emanated from atrial arrhythmias, which were present in one third of the patients.     

Echocardiographic diagnosis alone for the complete repair of major congenital heart defects

OBJECTIVES: The study was done to determine the diagnostic accuracy of echocardiography alone in the preoperative diagnosis of children with major congenital heart defects undergoing primary complete repair. BACKGROUND: Although echocardiography is well established as the first-line imaging technique for the diagnosis of all forms of congenital heart disease, most institutions continue to perform cardiac catheterization prior to complete repair of more complex defects. METHODS: To determine the diagnostic accuracy of echocardiography alone and echocardiography plus catheterization, we reviewed the records of 503 children with major congenital heart defects who underwent primary complete repair at our institution between July 1992 and June 1997. We included children with transposition of the great arteries, tetralogy of Fallot, double-chamber right ventricle, interrupted aortic arch, aortic coarctation, atrioventricular septal defect, truncus arteriosus, aortopulmonary septal defect, and totally anomalous pulmonary venous return. We excluded children with less complex defects such as isolated shunt lesions, as well as those with the most complex defects that would require surgical palliation (e.g., functional univentricular heart). We defined major errors as those that increased the surgical risk and minor errors as those that did not. Errors in diagnosis were determined at surgery. RESULTS: Eighty-two percent of children (412 of 503) underwent surgery after preoperative diagnosis by echocardiography alone. There were 9 major (2%) and 10 minor errors in the echocardiography alone group and 7 major and 5 minor errors in the echocardiography plus catheterization group. The most common type of error was misidentification of coronary artery anatomy in patients with transposition of the great arteries. No error in either group resulted in surgical morbidity or mortality. CONCLUSIONS: This study suggests that echocardiography alone is an accurate tool for the preoperative diagnosis of major congenital heart defects in most children undergoing primary complete repair, and may obviate the need for routine diagnostic catheterization.     

Assessment of the role and reliability of sonographic post-prandial flow response in grading Crohn''s disease activity

CONTEXT: The incidence of infective endocarditis after surgical repair of congenital heart defects is unknown. OBJECTIVE: To determine the long-term incidence of endocarditis after repair of any of 12 congenital heart defects in childhood. DESIGN: Population-based registry started in 1982. SETTING: State of Oregon. PARTICIPANTS: All Oregon residents who underwent surgical repair for 1 of 12 major congenital defects at the age of 18 years or younger from 1958 to the present. MAIN OUTCOME MEASURE: Diagnosis of infective endocarditis confirmed by hospital or autopsy records. RESULTS: Follow-up data were obtained from 88% of this cohort of 3860 individuals through 1993. At 25 years after surgery, the cumulative incidence of infective endocarditis was 1.3% for tetralogy of Fallot, 2.7% for isolated ventricular septal defect, 3.5% for coarctation of the aorta, 13.3% for valvular aortic stenosis, and 2.8% for primum atrial septal defect. In the cohorts with shorter follow-up, at 20 years after surgery the cumulative incidence was 4.0% for dextrotransposition of the great arteries; at 10 years, the cumulative incidence was 1.1% for complete atrioventricular septal defect, 5.3% for pulmonary atresia with an intact ventricular septum, and 6.4% for pulmonary atresia with ventricular septal defect. No children with secundum atrial septal defect, patent ductus arteriosus, or pulmonic stenosis have had infective endocarditis after surgery. CONCLUSION: The continuing incidence of endocarditis after surgery for congenital heart defect, particularly valvular aortic stenosis, merits education about endocarditis prophylaxis for children and adults with repaired congenital heart defects.     

Risk factors for higher cost in congenital heart operations

BACKGROUND: For many congenital heart defects, hospital mortality is no longer a sensitive parameter by which to measure outcome. Although hospital survival rates are now excellent for a wide variety of lesions, many patients require expensive and extensive hospital-based services during the perioperative period to enable their convalescence. These services can substantially increase the cost of care delivery. In today's managed care environment, it would be useful if risk factors for higher cost could be identified preoperatively so that appropriate resources could be made available for the care of these patients. The focus of this retrospective investigation is to determine if risk factors for high cost for repair of congenital heart defects can be identified. METHODS: We assessed financial risk by tracking actual hospital costs (not charges) for 144 patients undergoing repair of atrial septal defect (58 patients), ventricular septal defect (48 patients), atrioventricular canals (14 patients), or tetralogy of Fallot (24 patients) at Duke University Medical Center between July 1, 1992, and September 15, 1995. Furthermore, we were able to identify where the costs occurred within the hospital. Financial risk was defined as a large (> 60% of mean costs) standard deviation, which indicated unpredictability and variability in the treatment for a group of patients. RESULTS: Cost for atrial septal defect repair was predictably consistent (low standard deviation) and was related to hospital length of stay. There were factors, however, for ventricular septal defect, atrioventricular canal, and tetralogy of Fallot repair that are identifiable preoperatively that predict low- and high-risk groups using cost as an outcome parameter. Patients undergoing ventricular septal defect repair who were younger than 6 months of age at the time of repair, who required preoperative hospital stays of longer than 7 days before surgical repair, or who had Down's syndrome had a less predictable cost picture than patients undergoing ventricular septal defect repair who were older than 2 years, who had short (< 4 days) preoperative hospitalization, or who did not have Down's syndrome ($48,252 +/- $42,539 versus $15,819 +/- $7,219; p = 0.008). Patients with atrioventricular canals who had long preoperative hospitalization (> 7 days), usually due to pneumonia (respiratory syncytial virus) with preoperative mechanical ventilation had significantly higher cost than patients with atrioventricular canals who underwent elective repair with short preoperative hospitalization ($83,324 +/- $60,138 versus $26,904 +/- $5,384; p = 0.05). Patients with tetralogy of Fallot had higher costs if they had multiple congenital anomalies, previous palliation (combining costs of both surgical procedures and hospital stays), or severe "tet" spells at the time of presentation for operation compared with patients without these risk factors ($114,202 +/- $88,524 versus $22,241 +/- $7,071; p = 0.0005). One patient (with tetralogy of Fallot) with multiple congenital anomalies died 42 days after tetralogy of Fallot repair of sepsis after a gastrointestinal operation. Otherwise, hospital mortality was 0% for all groups. CONCLUSIONS: Low mortality and good long-term outcome for surgical correction of congenital heart defects is now commonplace, but can be expensive as some patients with complex problems receive the care necessary to survive. This study demonstrates that it is possible to identify factors preoperatively that predict financial risk. This knowledge may facilitate implementation of risk adjustments for managed care contracting and for strategic resource allocation.     

Excellent late results of total circulatory annuloplasty with absorbable suture for the repair of mitral regurgitation of atrioventricular septal defects in children

We treated 15 children with atrioventricular septal defects (6 complete type and 9 incomplete type) using total circulatory annuloplasty for mitral regurgitation. In 14 patients, total circulatory annuloplasty was performed with absorbable suture and in one patient with polypropylene suture. Operative death was one patient associated with tetralogy of Fallot and another 14 patients survived. Preoperative mitral regurgitation was grade 1 in one patient, grade 2 in 6 patients and grade 3 in 7 patients. After operation mitral regurgitation reduced to grade 1 in 13 patients and grade 2 in one patient. In the late results, only one patient underwent reoperation for exacerbation of mitral regurgitation. The present data suggested that total circulatory annuloplasty with absorbable suture was very useful technique for the repair of mitral regurgitation of atrioventricular septal defects in children.     

Provoked enuresis-like episodes in healthy children 7 to 12 years old

A 15-year-old boy with tetralogy of Fallot and pulmonary atresia without central pulmonary arteries who was successfully treated using a staged approach is presented. The first stage consisted of the creation of central pulmonary arteries. In the second stage, the continuity between the right ventricle and the pulmonary arteries was established with closure of the ventricular septal defect. Some patients previously considered to be unsuitable candidates for correction may be successfully repaired using this approach.     

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

Conotruncal malformations account for about 50% of congenital heart defects diagnosed in newborns. We studied prospectively 104 patients admitted in our neonatal intensive care unit for conotruncal defects by fluorescence in situ hybridization to estimate the prevalence of the interstitial deletion in this category of congenital heart disease. Cardiac phenotypes were: truncus arteriosus (17), interrupted aortic arch (18), tetralogy of Fallot with or without pulmonary valve atresia (55), tetralogy of Fallot with absent pulmonary valves (5), ventricular septal defect with malalignment of the conal septum (9). We discovered a microdeletion 22q11 at loci D22S39 or D22S398 in 50 newborns (48%). The prevalence of this microdeletion in different groups of conotruncal defects was: truncus arteriosus 7/17, interrupted aortic arch 16/18, tetralogy of Fallot 19/55, absent pulmonary valves 2/5, and ventricular septal defect 6/9 respectively. Only two patients without any clinical or biological feature of the so called CATCH22 syndrome exhibited the deletion. Parental studies confirmed that the deletion occurred de novo in 47/50 cases (three parental microdeletions). On the other hand, recurrence of conotruncal heart defects in families of "undeleted probands" was higher than expected (13%). CONCLUSION: In 50/104 newborns with conotruncal defects, an interstitial deletion 22q11 was found. Fluorescence in Situ Hybridization should be performed in newborn infants with conotruncal defect and at least one additional manifestation of the CATCH22 phenotype.     

Different ancestor alleles: a reason for the bimodal fragment size distribution in the minisatellite D2S44 (YNH24)

The aim of this study was to evaluate whether MR could depict pulmonary arterial anatomy in more detail than routine angiography in patients with congenital interruption or acquired occlusion of the left pulmonary artery or pulmonary atresia. This study included 10 patients with tetralogy of Fallot (n=6) or pulmonary atresia with ventricular septal defect (n=3) or aorticopulmonary window (n=1) diagnosed by cardiac angiography and MR. Surgical confirmation was made in seven patients. Interruption of the proximal left pulmonary artery, diagnosed at the time of evaluation, was found in seven patients and acquired obstruction of the hilar pulmonary artery (PA) was found in two at cardiac angiography. In the remaining one patient with pulmonary atresia and an occluded palliative shunt, the central PA was not visualized at angiography. MR showed 3-6 mm-sized hilar PAs in five and a central PA in a patient with pulmonary atresia. In 4 of 6 (67%) surgically-proven patients with congenital or acquired left PA obstruction, the status of the PA distal to the obstruction was correctly diagnosed with MR. In conclusion, MR is an effective modality in depicting sizable PAs when routine angiography fails to visualize the PA anatomy.     

Transatrial-transpulmonary tetralogy of Fallot repair is effective in the presence of anomalous coronary arteries

OBJECTIVES: The study's object was to analyze the outcomes of transatrial-transpulmonary repair in children with tetralogy of Fallot and anomalous coronary artery crossing the right ventricular outflow tract. METHODS: The transatrial-transpulmonary approach was used in 611 consecutive repairs, 36 (5.9%) of which were associated with a surgically relevant coronary artery anomaly. The median age and weight of the patients at repair were 23 months (2.8-170 months) and 9.9 kg (5.2-41 kg), respectively. Anomalies included left anterior descending coronary artery from right coronary artery or single right coronary artery (n = 22), right coronary artery from left coronary artery or left anterior descending coronary artery (n = 8), and large right coronary artery conal branch (n = 6). Diagnosis was established before the operation in 25 of 36 cases by angiography (n = 24) or echocardiography (n = 1). The approach was successful in 34 cases, in 25 of which placement of a limited transannular patch was necessary. Two patients had a right ventricle-pulmonary artery conduit as a result of proximity of the coronary branch to the pulmonary arterial anulus and inability to adequately relieve the right ventricular outflow tract obstruction. RESULTS: There have been no early or late deaths. Mean right ventricle-pulmonary artery gradient at last follow-up was 19 mm Hg (95% confidence interval 14.5-24 mm Hg), compared with 15 mm Hg (95% confidence interval 12.5-17.5 mm Hg) for patients with normal coronary arteries (P = .3). Actuarial freedom from reoperation at 120 months was 96.5% (95% confidence interval 79.8%-99.5%) and was also similar between patients with and without coronary artery abnormalities (P = .92). CONCLUSIONS: Surgically important coronary anomalies in tetralogy of Fallot can be dealt with through the transatrial-transpulmonary approach in most cases without major alterations in technique. Outcomes are similar to those of other patients with tetralogy of Fallot. The presence of anomalous coronary arteries does not impart incremental risk after this surgical strategy.     

Anomalous coronary artery with tetralogy of Fallot and aortopulmonary window

Anomalous origin of the left main coronary artery from the pulmonary artery is rarely associated with other conditions. We report the case of an infant born with tetralogy of Fallot and aortopulmonary window who at the time of surgical repair was found to have an anomalous left main coronary artery originating from the right pulmonary artery.