Nonobstructing accessory mitral valve tissue and ventricular septal defect

A 4-month-old boy with ventricular septal defect was found to have accessory mitral valve tissue attached to the anterior leaflet of the mitral valve. Operation was successfully performed to excise the accessory mitral tissue in the left ventricular outflow tract and close the ventricular septal defect. Most previously reported cases with accessory mitral valve tissue were associated with left ventricular outflow tract obstruction. This boy had no pressure gradient across the left ventricular outflow tract. The indications for prophylactic excision of nonobstructing accessory mitral valve tissue in a patient with other forms of congenital cardiac disease are discussed.     

Mitral valve replacement under beating heart in 137 cases

To avoid damage of myocardial ischemia, myocardial hypoxia and reperfusion injury, we designed mitral valve replacement in beating heart under extracorporeal circulation with low dose temperature of 31 degrees C to 35 degrees C in 137 cases of rheumatic heart disease, congenital heart disease mitral stenosis and mitral insufficiency, or concurrent aortic insufficiency. The patients were rept in unblocking aorta, unfilling cardiac arrest perfusion, idle pulse and dradycardia of 40-50 times/min, nose temperature of 32 +/- 1 degrees C. Patients with concurrent aortic insufficiency should first undergo replacement of aorta under cold cardiac arrest and then replacement mitral valve under beating heart to reduce the time of cold heart ischemia. Plastic surgery for tricuspid valve was done under beating heart. Good postoperative prognosis was nated: an average arterial pressure of 9.5-10.5 kPa (70 to 80 mmHg), dose of dopamine was obviously reduced. No low cardiac output syndrome, acute renal failure and severe arrythmia were observed in 137 cases, except 4 deaths due to infection and blood coagulation (2.9%). A left cardiac chamber no-level air removal device and aorta perfusioner leading flow device were designed for exsufflation of left pneumatocardia.     

Congenital malformations of the mitral valve in children. Pathology and surgical treatment

A systematic study of congenital mitral valve malformations was undertaken on a surgical basis in an attempt to develop techniques of valvular reconstruction adapted to the various lesions. Forty-seven children between the ages of 4 months and 12 years (average 6 years, 4 months) have been operated upon between January, 1970, and March, 1976. Valvular lesions were classified into four group: Group I, mitral insufficiency owing to valvular lesions: Group II mitral insufficiency with subvalvular lesions; Group III, mitral insufficiency and stenosis; Group IV, stenosis. Associated lesions (ventricular or atrial septal defects, coarctation, or aortic valve stenosis) were present in 31 patients (65 per cent) and were corrected during the same operation. Valve reconsruction was possible in 38 patients whereas valve replacement was necessary in 9 patients. In the valve repair group there were three operative deaths (8 per cent), no late deaths, one reoperation for residual ventricular septal defect, and one myocardial infarction. In the valve replacement group of 9 patients, there were three operative deaths, three late deaths, and one case of repeated embolization. Thirty-one of 38 patients in the valve repair group were classified into Functional Class I after the operation (86 per cent), 2 were in Class II, and one in Class III. Minimal or moderate regurgitation and cardiomegaly persisted in the majority of the patients. Pulmonary artery pressure significantly decreased, however, as demonstrated by postoperative catheterization in 17 patients.     

Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction

Among 41 consecutive children with classic Noonan syndrome, 27 patients (66%) presented cardiac anomalies. Eight patients (19.5%) had a congenital anomaly of the mitral valve consisting of 5 with partial atrioventricular canal defect and 3 with anomalous insertion of the mitral valve on the ventricular septum. Five patients (12%) presented with a significant left ventricular outflow tract obstruction caused by the anterior leaflet of the mitral valve: two cases with atrioventricular canal and three cases with isolated anomalous insertion of the mitral valve. Echocardiography is the best tool for the diagnosis. Cardiac defects of patients with Noonan syndrome may be explained on the basis of anomalies of the extracellular matrix involving cardiac valves including the mitral valve. CONCLUSION: In children with Noonan syndrome and left ventricular hypertrophy a careful echocardiographic assessment of the mitral valve should reveal those in whom the left ventricular outflow tract obstruction is anatomical in nature.     

The cumulative risks of prolapsing mitral valve. 40 years of follow-up

Prolapsing mitral valve is a common cardiac condition, occurring in approximately 16 million people in the United States alone. Primary prolapsing mitral valve may be familial or nonfamilial and may be associated with myxomatous degeneration of the mitral valve leaflets, such as occurs in Marfan syndrome and other connective tissue disorders. Secondary forms may be associated with such entities as rheumatic fever (especially after commissurotomy) and coronary artery disease (in the presence of ruptured chordae tendineae), and with such congenital conditions as interatrial defect and primary cardiomyopathy with outflow tract obstruction. Prolapsing mitral valve is characterized by late systolic murmur, mid-systolic click, or both. Arrhythmias occur in the form of benign premature atrial contraction, premature nodal contraction, and paroxysmal atrial tachycardia. As the patient ages, atrial flutter and atrial fibrillation tend to develop. In some chronic cases, especially those involving atrial fibrillation, systemic emboli may occur. Rare premature ventricular contractions may be largely benign, whereas more frequent premature ventricular contractions may lead to severe arrhythmic complexes such as ventricular tachycardia or ventricular fibrillation. With advancing age, atrioventricular conduction defects of varying degrees or sick sinus syndrome may necessitate a pacemaker installation. About one quarter of prolapsing mitral valve cases progress, with increasing mitral insufficiency and increasing enlargement of the left atrium and left ventricle, which at times leads to congestive heart failure. Coronary artery disease may occur with the severity commensurate with the patient's age group. About three quarters of patients with prolapsing mitral valve syndrome lead normal lives.     

Pulsatile total cavopulmonary shunt for hypoplastic right heart syndrome with abnormal systemic venous return--a case report

A pulsatile total cavopulmonary shunt was successfully performed on a 5-year-old girl with hypoplastic right heart syndrome associated with abnormal systemic venous return; at the same time, modified mitral valve replacement was performed for mitral regurgitation. The right atrium, tricuspid valve and right ventricle were all extremely dimunitive. The diameter of the tricuspid valve was 50% of normal and the volume of the right ventricle was 8.6% of normal. In addition, there were severe subpumonary stenosis, a restrictive ventricular septal defect (VSD) and an atrial septal defect (ASD). The bilateral superior venae cavae (SVCs) and the hepatic vein drained to the left atrium, and the inferior vena cava was infrahepatically interrupted with a hemiazygos connection to the left superior vena cava. At the operation, each SVC was anastomosed end-to-side to each branch of the pulmonary artery (PA). The restrictive ventricular septal defect and stenotic subpulmonary lesion were left. The diameter of the ASD was reduced from 12 mm to 7 mm. The main PA was neither divided nor banded. The pulsatile blood flow from the left heart to the PA was regurated by a native restrictive VSD and stenotic subpulmonary lesion, and that from the right heart via the ASD was limited by reducing the size of the ASD. These described anatomic arrangements produced adequate antegrade pulsatile flow in the PA, which might prevent the development of pulmonary arteriovenous fistulae and, besides permit transfer of drainage of the hepatic vein from the left to the right atrium via the ASD in future.     

Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS)

OBJECTIVE: There is a high prevalence of congenital heart defects in patients with Turner's syndrome. Few studies have reported echocardiographic data in unselected patients according to the different chromosomal patterns. The aim of our study was to evaluate a large series of patients with Turner's syndrome, comparing these data with those of the general population. METHODS: Five hundred ninety-four patients with Turner's syndrome, aged 1 month to 24 years, in the Italian Study Group for Turner Syndrome underwent full cardiologic evaluation. Karyotype distribution was: 45,X (54%), X-mosaicism (13%), and X-structural abnormalities (33%). RESULTS: The prevalence of cardiac malformations was 23%. Bicuspid aortic valve (12.5%), aortic coarctation (6.9%), and aortic valve disease (3.2%) were the most prevalent malformations. In comparison with the general population, partial anomalous pulmonary venous drainage had the highest relative risk. A correlation was found between type of congenital heart defect and karyotype. The patients with 45,X karyotype had the greatest prevalence of partial anomalous pulmonary venous drainage and aortic coarctation, whereas bicuspid aortic valve and aortic valve disease were more common in the patients with X-structural abnormalities. The patients with severe dysmorphic signs showed a significantly higher relative risk of cardiac malformations. CONCLUSION: X-linked factors may be involved in determining cardiac defects in Turner's syndrome.     

Attributable fraction for cardiac malformations

To the authors' knowledge, attributable fractions for cardiac malformations have not been reported before. The Baltimore-Washington Infant Study published factors associated with several major cardiac malformations in Maryland, the District of Columbia, and adjacent counties of northern Virginia in 1981-1989. For eight of these malformations, the authors provide attributable fractions of those factors that are potentially causal. Summary attributable fractions range from 13.6% (four factors) for hypoplastic left heart to 30.2% (seven factors) for transposition of great arteries with intact ventricular septum. Extra attributable fraction for factor x, defined as summary attributable fraction for all factors minus that for all but x, is largest for: 1) paternal marijuana use in transposition of great arteries with intact ventricular septum, 7.8%; 2) paternal anesthesia in tetralogy of Fallot, 3.6%; 3) painting in atrioventricular septal defect with Down syndrome, 5.1 %; 4) solvent/degreasing agent exposure in hypoplastic left heart, 4.6%; 5) sympathomimetics in coarctation of aorta, 5.8%; 6) pesticide exposure in isolated membranous ventricular septal defect, 5.5%; 7) hair dye in multiple/multiplex membranous ventricular septal defect, 3.3%; and 8) urinary tract infection in atrial septal defect, 6.4%. Percent-of-cases-exposed dominates relative risk in attributable fraction. If these factors are causal, the larger extra attributable fractions suggest the potential for prevention by specific interventions before/during pregnancy.     

Hypertrophic obstructive cardiomyopathy in pediatric patients: results of surgical treatment

Between April 1975 and May 1995, 25 pediatric patients on one hospital service underwent extended left ventricular septal myectomy because of hypertrophic obstructive cardiomyopathy. Ages ranged from 2 months to 20 years (mean, 11.2 years). Seventeen patients had moderate to severe mitral valve insufficiency. Medical therapy had failed in all patients and one patient had undergone dual-chamber pacemaker implantation without improvement. Left ventricular outflow tract gradients ranged from 50 to 154 mm Hg (mean, 99.9 +/- 25.2). Concomitant cardiac procedures included mitral valve repair (n = 2), automatic implantable cardioverter defibrillator implantation (n = 1), and closure of atrial septal defect (n = 1). Intraoperative premyectomy left ventricular outflow tract gradients ranged from 20 to 117 mm Hg (mean, 60.4 + 26.2) and postmyectomy gradients ranged from 0 to 20 mm Hg (mean, 6.6 +/- 5.9). Postmyectomy mitral insufficiency was reduced to a regurgitant fraction of 0% to 12%, and no patient required mitral valve replacement. One patient required a pacemaker because of complete heart block; on subsequent follow-up, normal sinus rhythm had returned. There was no early mortality and no instance of aortic or mitral valve injury or ventricular septal defect. Follow-up ranged from 10 months to 20 years (mean, 6.4 years). There were no late deaths. Left ventricular outflow tract gradients by echocardiography were a mean of 14.2 mm Hg with a median of 5.0 mm Hg. All patients had normal sinus rhythm. Reoperation because of recurrent left ventricular outflow tract obstruction was necessary in two patients at 3.2 years and 12.4 years after initial myectomy, respectively. All patients but one have New York Heart Association class I or II function. We conclude that extended septal myectomy is a safe and effective means of relieving cardiac symptoms and left ventricular outflow tract obstruction in pediatric patients with severe hypertrophic obstructive cardiomyopathy unresponsive to medical management, and late survivorship compares favorably with the natural history of the disease.     

Use of bovine heterografts in intravenous therapy

Severe prolapse of the mitral valve leaflets was seen at left ventricular angiography in 16 of 92 patients with a secundum type atrial septal defect studied prospectively from 1970 to 1974. The patients were aged 15 to 69 years; angioplasty or mitral valve replacement was carried out in nine. In 9 of 122 patients aged 15 to 55 years who were operated on for closure of a secundum type atrial septal defect between 1956 and 1969, mitral regurgitation due to prolapse but with intact chordae tendineae was seen at operation. In three of these patients chordal rupture was seen at a second operation 2 to 6 years later. The outlook in the syndrome of mitral valve prolapse may be less benign than is usually believed.     

Facile minimally invasive cardiac surgery via ministernotomy

BACKGROUND: The public's and surgeons' perception of minimally invasive operations are frequently at odds. Nevertheless, real or perceived benefits may result from limiting skin and skeletal trauma. METHODS: Beginning in January 1996, we began approaching most infant and pediatric open heart procedures through an upper sternal split incision using a 1- to 3-inch skin opening and then extended this technique using a 2.5- to 3.5-inch incision for adult aortic and mitral valve replacement. RESULTS: A total of 82 patients, 57 infants and children and 25 adults, have been operated on using this approach (age range, newborn to 81 years). Operations accomplished through ministernotomy have included aortic valvotomy, arterial switch, tetralogy of Fallot, atrial or ventricular septal defect closure, aortic valve replacement, mitral valve replacement and repair, redo aortic or mitral valve replacement, double valve replacement, aortic root replacement, and complex arch reconstruction. In adults, the sternum was divided and then a T incision was made at the second, third, or fourth intercostal space. The mitral valve was reached through the roof of the left atrium. In children, a lower sternal split was used for atrial septal defect repairs. All cannulas were introduced through the ministernotomy incision, eliminating femoral cannulation. No new instruments, retractors, or ports were used. Mediastinal drainage was accomplished through a Blake drain connected to Heimlich-valved grenade suction. All but 2 patients were extubated immediately. Hospital stay was from 1 to 20 days (median 2 days). Patient and family acceptance is very high. CONCLUSIONS: On the basis of this initial experience, we attempt all congenital cardiac and isolated adult valve operations through ministernotomy.     

Cardiac morphology at late fetal stages in the mouse with trisomy 16: consequences for different formation of the atrioventricular junction when compared to humans with trisomy 21

OBJECTIVE: The mouse with trisomy 16 (Ts16) is held to be a genetic model for humans with Down's syndrome (Ts21). Both trisomies are associated with atrioventricular septal defects, but the precise morphology in the mouse remains unclear. We have therefore characterised cardiac morphology in the mouse with Ts16. METHODS: Ts16 fetuses, from a Rb(11.16)2H/Rb(16.17)7Bnr x C57BL/6J cross, were collected on gestational days 17 or 18 (full term = 19 days) and studied using scanning electron microscopy and serial sections. RESULTS: The hearts showed a spectrum of deficient atrioventricular septation which we categorised into two types. In one, a common atrioventricular junction was separated into right and left orifices by a tongue of tissue joining two valvar leaflets that bridged the ventricular septum to varying extent. In the other, a common atrioventricular junction was connected exclusively to the left ventricle. All hearts had ostium primum atrial and ventricular septal defects, together with abnormal ventriculo-arterial connections. No heart had the typical morphology seen in the human with Down's syndrome, namely a balanced common atrioventricular junction, guarded by a common valve, with the aorta connected exclusively to the left ventricle. CONCLUSIONS: The cardiac defects seen in Ts16 mice show marked differences from the typical anatomy in human Ts21, suggesting more complex mechanisms of cardiac dysmorphogenesis in Ts16. The mouse model will prove valuable in elucidating the mechanism of normal expansion of the atrioventricular junctions, and help in charting the precise steps involved in atrial and ventricular septation.     

An experience in clinical application of real-time two-dimensional echocardiography

An experience with a real-time two-dimensional echocardiographic system was presented. In this report a sagittal plane section, i.e., the section which was parallel to the long axis of the left ventricle was used. The two-dimensional section of the normal heart, mitral stenosis, interventricular septal defect (preoperatively and postoperatively), mitral prosthetic valve, pericardial effusion, and acute myocardial infarction were studied. Easy applicability, quick recording, and non-invasive nature of the procedure, make the indications widened including acutely distressed patients. We conclude that real-time two-dimensional echocardiography is one of the most promising cardiac examinations.     

A new operative technique for pulmonary artery banding: adjustment of pulmonary artery bands by mitral valve flow velocity

We developed a new technique to adjust the pulmonary artery band at surgery by monitoring the mitral valve flow velocity, which is indirectly indicative of the pulmonary flow. We employed this technique for 10 consecutive patients aged from 5 days to 5 months (mean, 1 months) weighing from 2.7 to 4.4 kg (mean, 3.3 kg). Underlying disease was aortic coarctation or interrupted+ventricular septal defect in 7 patients, single ventricule in 1 patients and miscellaneous defects in 2 patients. The pulmonary artery was exposed through a left lateral thoracotomy and a 3 mm wide Teflon tape was placed around the main pulmonary artery. The transducer of the Doppler echocardiography was placed along the left sternal border. The band was tightened gradually until the maximum velocity of the mitral valve flow decreased to around 70% of the previous level. During banding procedure, arterial oxygen saturation, heart rate and left ventricular contractility were monitored continuously. If bradycardia, unacceptable hypoxemia or ventricular dysfunction occurred, the band was released. The mitral valve flow velocity decreased rapidly by just a little additional tightness of the band between the range of 50% to 80% of the previous level. This technique enabled a very fine adjustment (less than 0.5 mm plication) and postoperative management has become very easy. Although there is a limitation of this technique that monitoring of the mitral valve flow velocity cannot be applied to the patients with significant interatrial shunt or mitral regurgitation, we conclude that this technique is simple and useful to obtain the optimum constriction of the pulmonary artery with excessive pulmonary blood flow.     

Congenital heart defects in adolescence and adulthood: fatalities and morbidity in primary and reoperation

Adolescents and adults with congenital heart disease have become a new, continuously growing group of patients, because currently improved diagnostics and therapy allow the majority of newborns with congenital heart disease to survive to adulthood. The objective of this retrospective study was to investigate lethality and morbidity after surgery for congenital heart disease in adolescents and adults. Between 1989 and 1994, we operated 137 patients (age between 15 and 75 years; mean 33.8 +/- 15.1) because of congenital heart disease. This was equivalent to 2.7% of all patients, who were operated during this period of time. 101 cases were primary operations, in 36 cases (26.3%) a reoperation was performed. The most frequent diagnoses were ostium-secundum-defect (37.9%), anomalies of the aortic valve including sub- and supravalvular stenoses (9.5%), anomalies of the mitral valve (8%), ventricular septal defect (7.3%) and aortic coarctation (7.3%). Overall lethality was 5.8%, including emergency cases and all late deaths, which have been reported so far. Evaluation of morbidity showed an intraoperative cardiac low-output-syndrome in 3.7%, pulmonary failure in 5.8%, postoperative renal failure in 4.4% and postoperative bleeding complications in 7.3% of cases. Mean duration of postoperative ventilation and intensive care treatment were 2.3 +/- 5.3 and 3.6 +/- 7.3 d, respectively. In comparison to their preoperative status, 71% of patients had improved by one or two NYHA classes. We found that the higher perioperative risk related to reoperation had no impact on the operation's functional result, as evaluation of postoperative functional class showed no difference between primary and re-do cases. The general term congenital heart disease describes a very inhomogeneous group of patients with a broad spectrum of different diagnoses. The variable morphology and pathophysiology of the different congenital heart defects require an individual surgical strategy for each patient, in rare cases even the decision for a heart- or heart-lung-transplantation. Furthermore, adequate follow-up and competent ambulatory treatment of these patients require the cooperation of pediatric and adult cardiologists and cardiac surgeons in interdisciplinary outpatient clinics.     

Diagnosis of endocardial cushion defect with cross-sectional and M-mode scanning echocardiography. Differentiation from secundum atrial septal defect

Twelve cases of endocardial cushion defect were studied before and after operation with ultrasono-cardiotomography (tomography) cross-sectional echocardiography, two-dimensional echocardiography, B-scan echocardiography) and M-mode scan along a horizontal section of the heart. For comparison, 20 healthy subjects, 18 cases of mitral valvular disease, 4 cases of congestive cardiomyopathy, 1 case of partial anomalous pulmonary venous drainage, and 25 cases of atrial septal defect of secundum type were also examined with the same technique. In cases without cardiac malformation, the echo of the anterior mitral valve was usually continuous medially with that of the interatrial septum in the horizontal plane at the level of the membranous septum. This feature was clearly recorded in all cases with right heart enlargement. In ostium secundum atrial septal defect the echo of the anterior mitral valve continued into that of the interatrial septum. An echo interruption was shown, indicating the defect itself to be in the middle part of the interatrial septum. In all the cases of endocardial cushion defect which we examined discontinuity was shown between the echo of the anterior mitral valve and that of the interatrial septum. This discontinuity was interpreted as indicating the defect itself. The mitral valve ring echo was close to the basal end of that of the interventricular septum, possibly reflecting an abnormal attachment of the mitral valve. In all cases, after operation, the echo of the artificial interatrial septum was recorded, continuous with that of the anterior mitral valve. The features of the echocardiographic sweep from the anterior mitral valve to the interatrial septum were thus different in the three groups. These echocardiographic differences are thought to correspond to the anatomical differences between the normal, atrial septal defect of secundum type, and endocardial cushion defect, and are essential features differentiating them from each other.     

Echocardiography in Lutembacher's syndrome

The findings in a patient with surgically proven Lutembacher's syndrome (coexisting mitral stenosis and atrial septal defect) are presented. In addition to a typical pattern of mitral stenosis, the preoperative echocardiogram revealed paradoxical septal motion, thereby providing, prior to cardiac catheterization, a basis for the suspicion of an associated lesion due to diastolic overload of the right ventricle.     

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.     

Repair of coarctation with resection and extended end-to-end anastomosis

BACKGROUND: Our surgical strategy for infant coarctation changed from subclavian flap aortoplasty to resection with extended end-to-end anastomosis in 1991. The purpose of this review was to evaluate the results of that strategy. METHODS: From 1991 through 1997, 55 infants underwent repair of coarctation of the aorta using resection with extended end-to-end anastomosis. Isolated coarctation of the aorta was present in 26 patients, 20 patients had a ventricular septal defect, and 9 patients had other associated intracardiac lesions. Mean age at surgery was 0.20+/-0.24 years (median, 21 days). In 34 patients (62%), arch reconstruction was performed through a left thoracotomy. Twenty patients (36%) had median sternotomy with simultaneous repair of coarctation of the aorta and intracardiac repair of associated lesions. One patient had recoarctation repair through a median sternotomy. All coarctation and ductal tissue was resected and the anastomosis was constructed starting opposite the left carotid artery with running polypropylene suture. RESULTS: There was one early death 26 days after coarctation of the aorta and ventricular septal defect repair in a child on extracorporeal membrane oxygenation for meconium aspiration and 2 late deaths owing to pneumonia and pulmonary hypertension (1) and interventricular hemorrhage (1). There were no instances of paraplegia. Follow-up in survivors ranges from 10 to 76 months (mean, 39.8+/-17.2 months). Recoarctation has developed in 2 patients, who have had successful balloon dilation 6 and 14 months after the operation. This yields a low recoarctation rate of 3.6%. CONCLUSIONS: Resection with extended end-to-end anastomosis yields a low mortality and particularly a low recoarctation rate and is our procedure of choice for infants with coarctation of the aorta.     

On the generalization of the receiver operating characteristic analysis to the population of readers and cases with the jackknife method: an assessment

Interstitial deletions in chromosome 22 and features associated with CATCH-22 syndrome have been reported in patients with conotruncal congenital heart anomalies. Absent pulmonary valve syndrome is characterized by absent or rudimentary pulmonary valve cusps, absent ductus arteriosus, conoventricular septal defect, and massive dilation of the pulmonary arteries. Because absence of the ductus arteriosus is a key element in the pathogenesis of this syndrome and aortic arch malformations are frequently seen in patients with CATCH-22 syndrome, we hypothesized that patients with absent pulmonary valve syndrome would have a high incidence of deletions in the critical region of chromosome 22. Eight patients with absent pulmonary valve syndrome were studied. Metaphase preparations were examined with fluorescent in situ hybridization of the N25 (D22S75) probe to the critical region of chromosome 22q11.2. Deletions were detected in 6 of 8 patients. The presence of deletions in chromosome 22 in most of the patients we have examined with a diagnosis of absent pulmonary valve syndrome supports a specific genetic and embryologic mechanism involving the interaction of the neural crest and the primitive aortic arches as one cause of congenital absence of the pulmonary valve.