Pulmonary Valve Atresia Research Articles

European Contegra Multicentre Study: 7-Year Results after 165 Valved Bovine Jugular Vein Graft Implantations

The valved bovine conduit "Contegra" for RVOT reconstruction became available for clinical use within a 100 % source data monitored and echo core lab controlled prospective European Multicentre Study, carried out from 1999 to 2006. We present the results of this study. A total of 165 Contegras were implanted in 8 centres. The mean patient age was 3.9 years (2 days - 18 years, median 2.0). Total follow-up was 687 patient years. Diagnoses included: tetralogy of Fallot (64 patients, 39 %), truncus arteriosus (50, 30 %), double outlet right ventricle (16, 10 %), aortic valve disease/Ross procedure (11, 7 %), pulmonary valve atresia (10, 6 %), transposition of the great arteries (10, 6 %), 4 other malformations (2 %). Previous procedures were: 82 patients (50 %) - none; 37 (22 %) - valved conduit implantation; 14 (8 %) aortopulmonary shunt; 6 (4 %) catheter intervention. Follow-up appointments which included standardised echocardiography investigations were scheduled at 1, 3, 6, and 12 months, then annually. We evaluated freedom from death, explantation, intervention, stenosis, insufficiency, and degeneration. Results were stratified by age, diagnosis group and conduit size. The 5-year freedom-from rates were: explantation - 90 % (for patients aged 1 to 10 years) and 68 % (for younger patients); endocarditis - over 92 %; catheter intervention - 74 % (patients with congenital malformations); stenosis - 75 % and more (any group); insufficiency - 50 % (12 and 14 mm diameter conduits); any event - 13 % (patients under 1 year), 58 % (1 to 10 years), 82 % (> 10 years). Trace or mild insufficiency was a frequent, but not progressive finding. Mild calcification was detected in only 8 examinations. The performance of the Contegra conduit compares well with that of homografts when used to reconstruct paediatric right ventricular outflow tracts.

Aortopulmonary Collaterals in Single-Ventricle Congenital Heart Disease

Broadly defined, aortopulmonary collateral blood vessels (APCs) arise from the systemic arteries and supply blood to the pulmonary circulation. In the setting of acquired and congenital pulmonary and cardiac disease, the number and caliber of these vessels can increase and lead to a significant systemic-to-pulmonary shunt. APCs typically arise from the descending aorta, subclavian artery branches, and bronchial and intercostal arteries. Unlike normal bronchial arteries, they often supply flow to the terminal respiratory unit and do not necessarily travel in close proximity to the bronchial tree. Prominent APCs are associated with a variety of congenital heart diseases but are more prevalent with cyanotic lesions, particularly tetralogy of Fallot with pulmonary valve atresia. APCs are also commonly found in patients with single-ventricle heart disease, and their extent may fluctuate with successive surgical procedures.1–4 The impact and assessment of APCs in patients with a functionally single ventricle is the focus of the discussion that follows. Article see p 219 From a physiological standpoint, APCs may have both beneficial and adverse consequences. The principal advantageous effect of APCs is to improve systemic arterial oxygen saturation by increasing pulmonary blood flow leading to a higher “mixed” saturation in the ventricle. In addition, APCs may potentially inhibit the development of pulmonary arteriovenous malformations in patients with a bidirectional Glenn shunt by providing a route for hepatic venous blood to reach the lungs. Among the negative effects of APC flow is that it can compete with and limit the more effective, lower saturated blood flow to the lungs from the pulmonary arteries. Also of concern is that all APC flow returns to the single ventricle and thereby results in an additional volume load. Because these patients are at risk for the development of systolic and diastolic heart failure and atrioventricular valve regurgitation, any increased work …

Management of Older Single Functioning Ventricles With Outlet Obstruction due to a Restricted “VSD” in Double Inlet Left Ventricle and in Complex Double Outlet Right Ventricle

The occurrence of a restriction of the bulbo-ventricular foramen (BVF) in older patient with double inlet left ventricle (DILV) or tricuspid atresia (TA) with ventriculo-arterial discordance is a well-known condition. Today, the surgical management is to perform a Damus-type operation at the time of the bi-directional Glenn or at the Fontan completion. The ventricular septal defect (VSD) enlargement, associated with muscular resection and a patch enlargement of the subaortic accessory ventricular chamber, is rarely performed but remains indicated in cases with pulmonary valve atresia or regurgitation. This condition is essentially prevented by doing an early Norwood-type operation in the presence of DILV/TA with transposition of the great arteries associated with an aortic arch obstruction. The palliative switch operation is an option that was abandoned because of poor control of the pulmonary blood flow. It is only in cases of large unobstructed BVF that pulmonary artery banding could be undertaken in neonates, followed by close echocardiographic follow-up. The occurrence of a restriction or a closure of the VSD in complex DORV following a Fontan operation is a dramatic event and is quite "new business." It has been recently recognized that the VSD becomes restricted in a number of patients with DORV-nc-VSD treated with a Fontan palliation. This new condition is not surprising knowing that 75% of the VSDs must be enlarged preventively in DORV-nc-VSD repair. In the setting of a Fontan circulation, the supra-systemic left ventricle has severe consequences the right ventricle performance. Attempts at surgical VSD enlargement or catheter-based procedures have resulted in almost constant recurrence. This recently reported complication is in favor of also performing a VSD enlargement at the time of the Fontan completion in complex DORV. It justifies the biventricular repair in complex DORV with two viable ventricles.

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

NODAL and its signaling pathway are known to play a key role in specification and patterning of vertebrate embryos. Mutations in several genes encoding components of the NODAL signaling pathway have previously been implicated in the pathogenesis of human left-right (LR) patterning defects. Therefore, NODAL, a member of TGF-beta superfamily of developmental regulators, is a strong candidate to be functionally involved in congenital LR axis patterning defects or heterotaxy. Here we have investigated whether variants in NODAL are present in patients with heterotaxy and/or isolated cardiovascular malformations (CVM) thought to be caused by abnormal heart tube looping. Analysis of a large cohort of cases (n = 269) affected with either classic heterotaxy or looping CVM revealed four different missense variants, one in-frame insertion/deletion and two conserved splice site variants in 14 unrelated subjects (14/269, 5.2%). Although similar with regard to other associated defects, individuals with the NODAL mutations had a significantly higher occurrence of pulmonary valve atresia (P = 0.001) compared with cases without a detectable NODAL mutation. Functional analyses demonstrate that the missense variant forms of NODAL exhibit significant impairment of signaling as measured by decreased Cripto (TDGF-1) co-receptor-mediated activation of artificial reporters. Expression of these NODAL proteins also led to reduced induction of Smad2 phosphorylation and impaired Smad2 nuclear import. Taken together, these results support a role for mutations and rare deleterious variants in NODAL as a cause for sporadic human LR patterning defects.

Repaired tetralogy of Fallot in the adult: monitoring and management

Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart disease (CHD). The history of surgical treatment of ToF is closely linked with the origins of cardiac surgery. Before...

Pulmonary atresia with intact atrial and ventricular septums, unroofed coronary sinus, and absent aortocoronary arterial connections

A stillborn fetus with pulmonary valvar atresia and intact atrial and ventricular septums also had absence of coronary arterial connections from the aorta and an unroofed coronary sinus. A left superior caval vein drained to the dilated coronary sinus. The left coronary artery was anomalously connected to the proximal branch of the right pulmonary artery, and a fistula from the right ventricle supplied the right coronary artery.

OC182: In utero valvuloplasty for pulmonary valve atresia with hypoplastic right ventricle

OC182: In utero valvuloplasty for pulmonary valve atresia with hypoplastic right ventricle

Novel catheter positioning technique for atretic pulmonary valve perforation

Percutaneous pulmonary valve perforation in selected neonates with pulmonary valve atresia and intact ventricular septum has been well established as a therapeutic option. Pulmonary valve perforation is associated with significant risks including perforation of the right ventricle. Optimal catheter positioning is crucial to the success of the procedure. This report describes a novel technique for accurate positioning of a guiding catheter during perforation of an atretic pulmonary valve.

Transcatheter ductal stenting in critical neonatal Ebstein's anomaly

Symptomatic neonatal Ebstein's anomaly shows a very poor outcome, most frequently due to duct-dependent pulmonary circulation caused by functional pulmonary valve atresia. In this setting, percutaneous ductal stenting using high-flexibility coronary stents might be a highly cost-effective alternative to systemic-to-pulmonary shunt. Three newborns (age 4.7 +/- 2.9 days; weight 3.0 +/- 0.3 kg) with critical, duct-dependent tricuspid valve Ebstein's anomaly and functional pulmonary atresia unresponsive to prostaglandin infusion and multidrug vasodilator therapy, underwent duct stabilization with high-flexibility, open-cell stents as an alternative to surgical palliation. Their echocardiographic picture predicted a very high mortality rate. In two cases, the ductus arteriosus was recanalized using a combined pharmacological (local prostaglandin infusion) and mechanical (hydrophilic coronary guide-wire manipulation) approach. Stent implantation increased duct diameter from 0.5 +/- 0.7 to 3.2 +/- 0.2 mm (P < 0.0001), resulting in a significant rise in oxygen saturation from 67 +/- 9 to 92 +/- 4% (P < 0.00001). After the procedure, the patients were quickly weaned from mechanical ventilation and discharged after 16 +/- 7 days. Uneventful spontaneous ductal closure ensued in two patients in a few months, and percutaneous oxygen saturation was 87 +/- 3% at the last follow-up session (12 +/- 10 months). In critical newborns with severe, duct-dependent Ebstein's anomaly unresponsive to medical therapy, ductal stenting could be a reliable, safe and cost-effective alternative to either long-term prostaglandin treatment or surgical palliation, in view of lower-risk corrective surgery at older age. This option may also be attempted successfully within a few days of spontaneous ductal closure using a combined pharmacological and mechanical approach.

Unusual case of pulmonary valve atresia

No abstract available.

Factors related to the durability of a homograft monocusp valve inserted during repair of tetralogy of Fallot as based on the mid- to long-term outcomes

To maintain pulmonary valvar function subsequent to repair of tetralogy of Fallot, we have inserted a homograft monocusp when a transjunctional patch was required. In this study, we have evaluated the mid- to long-term outcomes, aiming to determine the durability of the homograft. Among 218 repairs performed for tetralogy of Fallot between July, 1996, and June, 2005, we inserted homograft monocusps in 54 patients, 4 of whom had associated absent pulmonary valve syndrome, 3 had pulmonary valvar atresia, and 1 had an atrioventricular septal defect with common atrioventricular junction. The median body weight at surgery was 7.8 kilograms, with a range from 3.9 to 42 kilograms. The function of the monocusp valve was assessed by regular echocardiography, using the Kaplan-Meier method and the Cox regression model for statistical analyses. There were 2 early deaths (3.7%), associated with respiratory infection. No late deaths were observed during the follow-up, which ranged from 0.3 to 120 months, with a median of 64.3 months. Freedom from valvar dysfunction was 67.2 +/- 6.7% at 1 year, 37.1 +/- 7.3% at 3 years, 23.8 +/- 6.7% at 5 years, and 21.2 +/- 6.4% at 7 years. We needed to replace the valve in 1 patient during follow-up. We found that ABO blood group incompatibility, stenosis of the pulmonary arteries, and associated absent pulmonary valve syndrome all adversely affected the function of the monocusp. Our experiences show that insertion of a homograft monocusp can prevent pulmonary regurgitation in the early period after repair of tetralogy of Fallot, but the effects are limited in duration as degeneration progressed. We still need to determine whether this finding can improve the longer-term function of the right ventricle.

Pulmonary atresia with intact ventricular septum (PA‐IVS) in monozygotic twins

Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare congenital heart defect (CHD) of unknown etiology, characterized by an atretic pulmonary valve with the right ventricle varying in size and morphology among different affected individuals. We report on monozygotic (monochorionic diamnionic) twin sisters with PA-IVS who died soon after birth. The patients were prematurely born at 27 weeks by caesarean to a 24-year-old gravida 1, para 0 Hispanic mother. The pregnancy course was previously uneventful, and the mother denied any exposures during pregnancy. Both parents were healthy, nonconsanguineous, with no known family history of CHD in a three-generation pedigree. The Apgar scores were 5 and 7 (Twin A), and 4 and 6 (Twin B), at 1 and 5 min, respectively. Birth weight was 1,050 g (60th centile, Twin A) and 910 grams (40th centile, Twin B), crown-heel length was 35 cm for both twins, and occipital-frontal circumferences were 24.8 cm (Twin A) and 25 cm (Twin B). Soon after birth, Twin A developed increasing respiratory rate requiring mechanical ventilation, and a systolic ejection murmur at the left upper sternal border was noted accompanied by poor oxygen saturations. Chest X-ray revealed hazy, granular lung fields consistent with hyaline membrane disease as well as a cardiac silhouette occupying nearly 70% of the thoracic diameter. An echocardiogram revealed an annular-type pulmonary valve atresia, and aortic stenosis with a bicuspid aortic valve. The left ventricle appeared normal in size and function. In spite of therapy, the patient developed respiratory failure and died at the age of 3 days. TwinB had a similar clinical course and the echocardiogram also showed pulmonary valve atresia (without aortic atresia), suprasystemic right ventricular systolic pressures and moderate tricuspid regurgitation. On day 3 of life, the echocardiogram showed poor cardiac function with left ventricular ejection fraction of 45%. Grade IV germinal matrix hemorrhage was detected by ultrasound. Comfort care was provided, and she died on day 7 of life. Unrestricted postmortem examinations, following perinatal autopsy protocols were performed in both patients. The cardiac findings present in both twins were virtually identical, consistent with the diagnosis of PA-IVS, and characterized by cardiomegaly Twin A: 16.5 g; Twin B: 15.2 g), marked right atrial dilatation, marked right ventricular myocardial hypertrophy (8–10 mm in thickness) and a small right ventricular chamber measuring approximately 9 mm from the atrioventricular annulus to the apical aspect of the chamber. In both cases, the tricuspid valves were dysplastic with two identifiable thick leaflets, attached to the right ventricular endocardium through markedly short and thickened chorda tendineae and papillary muscles. The pulmonary valvewas completely atretic in bothpatients, with three fused valves leaving no identifiable lumen. In addition, in twin A the aortic valve was bicuspid with thick, dysplastic leaflets. All other cardiac structures appeared within normal limits in both twins, and no other dysmorphic features besides the congenital heart defects were present in either twin. In particular, no short sternum, abnormal palmar creases or camptodactyly were noted.

Determinants of Outcome in Fetal Pulmonary Valve Stenosis or Atresia With Intact Ventricular Septum

Determinants of Outcome in Fetal Pulmonary Valve Stenosis or Atresia With Intact Ventricular Septum

Presentation of Congenital Heart Disease in the Neonate and Young Infant

Presentation of Congenital Heart Disease in the Neonate and Young Infant

Determinants of Outcome in Fetal Pulmonary Valve Stenosis or Atresia With Intact Ventricular Septum

Pulmonary valve stenosis or atresia with intact ventricular septum represents a spectrum of severity. This study aimed to identify ultrasound markers of biventricular versus non-biventricular outcome. The fetal echocardiograms of 41 fetuses diagnosed with pulmonary stenosis or atresia and right ventricular (RV)/left ventricular (LV) length ratios >0.4 from 17 to 31 weeks of gestation were reviewed. Of 27 live-born patients with intention to treat, 8 had non-biventricular outcomes and 19 had biventricular circulation. At the time of diagnosis, poor RV function, flow reversal in the arterial duct, the degree of tricuspid valve (TV) regurgitation, and inferior vena cava Doppler flow pattern did not differ between the 2 outcome groups. However, RV sinusoids, the RV/LV length ratio, the TV/mitral valve ratio, and TV inflow duration were significantly different. Cut-off values derived from receiver-operating characteristic curves yielding the best sensitivity and specificity for a non-biventricular outcome were TV/mitral valve ratio <0.7, RV/LV length ratio <0.6, TV inflow duration <31.5% of cardiac cycle length, and the presence of RV sinusoids. If 3 of these 4 criteria were fulfilled, this predicted a non-biventricular outcome with sensitivity of 100% and specificity of 75%. In conclusion, in fetuses < or =31 weeks of gestation with pulmonary stenosis or atresia and intact ventricular septum, progression to a non-biventricular outcome can be predicted by a 4-criterion scoring system. The criteria may be useful in selecting fetuses for prenatal catheter intervention to prevent progressive RV hypoplasia.

National rates of birth defects among hospitalized newborns

The Healthcare Cost and Utilization Project (HCUP) family of hospital discharge databases offer an unprecedented opportunity to generate national estimates of newborn infants with birth defects. This report estimates national hospital admissions for newborn infants diagnosed with birth defects computed from HCUP and compares them to pooled prevalence figures computed from state birth defect surveillance systems. HCUP-derived rates of 36 birth defects from 1997 through 2001 were compared to rates derived from pooled data reported by 26 state-based surveillance systems stratified by inclusion of elective terminations in case definitions. Rate ratios (RRs) were calculated for each birth defect by dividing the rate derived from HCUP by the rate derived from the relevant surveillance systems. HCUP newborn hospitalization rates for birth defects closely approximate pooled birth defect rates for surveillance systems that do not include elective terminations. HCUP rates were not significantly different for 35 of 36 defects. Overall, 20 HCUP rates were within 10% of state rates, 11 more were within 20% of state rates, and only 1 differed by more than 50%. HCUP rates compared most closely to state rates for cardiovascular (VSD RR = 0.98, ASD = 0.96, pulmonary valve atresia and stenosis = 0.92), orofacial (cleft palate RR = 1.10, cleft lip = 1.06), and genitourinary defects (obstructive genitourinary RR = 1.01, bladder exstrophy = 0.97). HCUP rates compared less favorably to rates derived from surveillance systems that included elective terminations. HCUP data approximate state-based surveillance system data for defects that are easily recognized in the newborn period and infrequently a cause for elective termination. HCUP data can be used to examine the impact of public health efforts on the number of infants born with birth defects as well as the cost and consequences of variations in the hospital management of birth defects.

International Perspectives

When echocardiography is necessary in the newborn period, it often is needed urgently. ( 1) However, staffing, organizational, and geographic limitations make it unlikely for pediatric cardiologists to provide 24-hour coverage for echocardiographic assessment of sick newborns in most centers. (2) Pediatric cardiology services also could be overwhelmed with requests for assessments of ductal shunting in preterm infants who have yet to develop clinical signs. (3) In many parts of the world, literature on the value of early hemodynamic assessment and increased access to ultrasonography equipment with improving image quality has motivated neonatologists to develop echocardiographic skills. As a result, echocardiography is increasingly considered an integral component of the assessment of the critically ill newborn. (2)(4)(5) An increasing number of neonatologists are undertaking assessments of functional hemodynamic status by echocardiography, with particular interest in volume of ductal shunt, (3) severity of persistent pulmonary hypertension, (6) and detection of low systemic blood flow. (7) In addition, some neonatologists have assumed the responsibility of excluding structural congenital heart disease in newborns presenting with cyanosis or a cardiac murmur. This review describes the principal applications of echocardiography by the neonatologist, with some practical guidance on method of assessment and interpretation of findings. Echocardiography is highly user-dependent. (8) The primary concern about neonatologists performing echocardiography has been the potential for misdiagnosis, particularly failure to recognize cardiac disease. There is scope for error in the diagnosis of both structural and functional cardiac pathology. Although errors in assessment of structural cardiac disease usually become evident over time, cardiac function changes dramatically during the neonatal period, so it is more difficult to assess whether interoperator discrepancies in functional assessment are due to observer error or true functional change. Some reports have suggested an unacceptably high error rate in the diagnosis of structural …

Optimal Management Strategies for Patients With Complex Congenital Heart Disease

The combination of critical pulmonary outflow obstruction with a large ventricular septal defect is symbolized by the diagnosis of tetralogy of Fallot, the most common form of cyanotic congenital heart disease. In many ways, the history of management for patients with tetralogy is representative of the evolution of management for all children with complex congenital cardiac diagnoses. Tetralogy was the first complex lesion addressed surgically with the palliative Blalock-Taussig shunt in 1945 and the first repaired completely with patients’ mothers serving as the bypass machine in 1954.1,2 The introduction of valved conduits in 1964 allowed repair of lesions not previously considered amenable to correction.3 The next 3 decades were marked by improved survival at open heart repair, recognition of the progressive deterioration of valved conduits necessitating early and repeated reoperation, and a progressive decrease in the age of primary repair to now the first few months of life.4,5 In the late 1970s, reports of arrhythmia and late sudden death among tetralogy survivors led to evaluation of tetralogy cohorts with residual right ventricular (RV) volume and/or pressure overload identified as predictors of late complications.6,7 Recognition of this problem heightened appreciation of the importance of arrhythmias in postoperative congenital heart disease patients and identified the need for informed long-term care and attention to residua of earlier procedures for all patients with congenital heart disease.8 Finally, the last 20 years have witnessed the dramatic rise in interventional procedures to address both correction of simple lesions and palliation/management of complex diagnoses.9 Article p 2598 The remarkable progress in care of children with tetralogy exemplifies the collaboration between pediatric cardiologists and congenital cardiac surgeons, the development of new techniques to address problems as they emerge, and the continuous evolution of management that have characterized care of all patients with …

Natural History of Pulmonary Atresia With Intact Ventricular Septum and Right-Ventricle–Dependent Coronary Circulation Managed by the Single-Ventricle Approach

Long-term outcome of patients with pulmonary valvar atresia and intact ventricular septum with right-ventricle-dependent coronary circulation (PA/IVS-RVDCC) managed by staged palliation directed toward Fontan circulation is unknown, but should serve as a basis for comparison with management protocols that include initial systemic-to-pulmonary artery shunting followed by listing for cardiac transplantation. Retrospective review of patients admitted to our institution with the diagnosis of PA/IVS-RVDCC from 1989 to 2004. All angiographic imaging studies, operative reports, and follow-up information were reviewed. Right-ventricle-dependent coronary circulation was defined as situations in which ventriculocoronary fistulae with proximal coronary stenosis or atresia were present, putting significant left ventricle myocardium at risk for ischemia with right ventricle decompression. Thirty-two patients were identified with PA/IVS-RVDCC. All underwent initial palliation with modified Blalock-Taussig shunt (BTS). Median tricuspid valve z-score was -3.62 (-2.42 to -5.15), and all had moderate (n = 13) or severe (n = 19) right ventricular hypoplasia. Median follow-up was 5.1 years (9 months to 14.8 years). Overall mortality was 18.8% (6 of 32), with all deaths occurring within 3 months of BTS. Aortocoronary atresia was associated with 100% mortality (3 of 3). Of the survivors (n = 26), 19 have undergone Fontan operation whereas 7, having undergone bidirectional Glenn shunt, currently await Fontan. Actuarial survival by the Kaplan-Meier method for all patients was 81.3% at 5, 10, and 15 years, whereas mean survival was 12.1 years (95% confidence interval: 10.04 to 14.05). No late mortality occurred among those surviving beyond 3 months of age. In patients with PA/IVS-RVDCC, early mortality appears related to coronary ischemia at the time of BTS. Single-ventricle palliation yields excellent long-term survival and should be the preferred management strategy for these patients. Those with aortocoronary atresia have a particularly poor prognosis and should undergo cardiac transplantation.

Rates for specific birth defects among offspring of Japanese mothers, Hawaii, 1986–2002

The objective of this investigation was to identify the rates for specific birth defects among the offspring of Japanese mothers in Hawaii and compare them to rates among the offspring of white mothers. Cases were all infants and fetuses with any of 54 specific birth defects born to Japanese and white mothers identified by a population-based birth defects registry in Hawaii. The rates were calculated for both racial groups and comparisons made by calculating the rate ratio and 95% confidence interval. The rates among the offspring of Japanese mothers were substantially higher for four of the birth defects (pulmonary valve atresia and stenosis, anomalous pulmonary venous return, cleft lip with/without cleft palate, small intestinal atresia and stenosis) and substantially lower for five of the birth defects (pyloric stenosis, hypospadias and epispadias, renal agenesis and hypoplasia, obstructive genitourinary defect, syndactyly). After adjusting for maternal age, these significantly elevated or lower rates remained. Moreover, the rate was significantly higher among the offspring of Japanese mothers for anotia/microtia, tetralogy of Fallot, and persistent cloaca and significantly lower for transposition of great arteries. The rates for a number of specific birth defects differed between Japanese and white mothers in Hawaii.