Aortic perfusion score for pulmonary atresia with intact ventricular septum: An antegrade coronary perfusion scoring system that is predictive of need for transplant and mortality.

Background: Pulmonary atresia with intact ventricular septum is a unique congenital malformation of the heart in which patients may undergo single-, two- or 1½- ventricle repair. Size of the tricuspid valve annulus, morphology of the right ventricle and presence of ventriculocoronary connections can all impact the selection of appropriate palliative strategy. We developed the aortic perfusion score, a novel scoring system based on anterograde coronary perfusion with the aim of being able to identify patients at risk for death or transplant.

Predicting the Need for Neoaortic Arch Intervention in Infants with Hypoplastic Left Heart Syndrome Through the Glenn Procedure.

Neoaortic recoarctation is present in up to over one-third of patients having undergone the Norwood procedure for hypoplastic left heart syndrome. Some of these patients will require reintervention by catheterization or surgery through the time of the Glenn procedure. Echocardiography and catheterization are often utilized in this period to assess hemodynamics although no specific criteria have been identified to predict whether and when neoaortic arch reintervention will be needed.

Impact of MYH6 variants in hypoplastic left heart syndrome.

Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown. The goal of this study was to characterize a risk gene in HLHS and its effect on HLHS etiology and outcome.

Factors influencing bacteraemia in patients with isomerism and CHD: the effects of functional splenic status and antibiotic prophylaxis.

Background: "Heterotaxy syndrome", best segregated as isomerism, is characterised by laterality defects of the thoraco-abdominal organs, causing functional impairment. In particular, the spleen is frequently affected, increasing susceptibility to bacteraemia. This study explored factors that may increase the risk of bacteraemia in patients with isomerism.

Dual-Axis Rotational Angiography is Safe and Feasible to Detect Coronary Allograft Vasculopathy in Pediatric Heart Transplant Patients: A Single-Center Experience.

Coronary allograft vasculopathy (CAV) is the leading cause of graft failure in pediatric heart transplant recipients, also adding to mortality in this patient population. Coronary angiography is routinely performed to screen for CAV, with conventional single-plane or bi-plane angiography being utilized. Dual-axis rotational coronary angiography (RA) has been described, mostly in the adult population, and may offer reduction in radiation dose and contrast volume.

Is Aortic Valve Leaflet Morphology Predictive of Outcome in Pediatric Aortic Valve Stenosis?

Background: Initial palliative treatment of congenital aortic valve stenosis consists of either surgical commissurotomy or transcatheter balloon valvuloplasty. The basis for selection of primary approach usually is ill defined. It was hypothesized that aortic valve characteristics may be helpful in directing choice of intervention.

Determining bronchial morphology for the purposes of segregating so-called heterotaxy.

Unlabelled: Introduction Heterotaxy is a unique clinical entity in which lateralisation of the thoraco-abdominal organs is abnormal, typically with isomerism of the bronchial tree and atrial appendages. This study was carried out to determine whether routine clinical imaging such as chest radiographs, angiographic images, and CT/MRI can determine bronchial isomerism, and how sidedness of bronchial isomerism correlates with overall features anticipated in hearts with isomeric atrial appendages. Methods and results We identified 73 patients with heterotaxy, in whom imaging clearly demonstrated the bronchial tree, seen at our institution since 1998.

Addressing sexual health in congenital heart disease: when being the same isn't the same.

A larger number of individuals born with congenital heart disease is living into adolescence and young adulthood. With this comes the responsibility to counsel these patients regarding their sexual and reproductive health. This study utilizes representative data from the National Health and Nutrition Examination Survey to compare sexual measures including percentage of that sexually active, age of first sexual activity, number of sexual partners, condom use, and history of sexually transmitted diseases in those with and without congenital heart disease.

Impact of pre-stage II hemodynamics and pulmonary artery anatomy on 12-month outcomes in the Pediatric Heart Network Single Ventricle Reconstruction trial.

Objective: To compare the interstage cardiac catheterization hemodynamic and angiographic findings between shunt types for the Pediatric Heart Network Single Ventricle Reconstruction trial. The trial, which randomized subjects to a modified Blalock-Taussig shunt (MBTS) or right ventricle-to-pulmonary artery shunt (RVPAS) for the Norwood procedure, demonstrated the RVPAS was associated with a smaller pulmonary artery diameter but superior 12-month transplant-free survival.

Methods: We analyzed the pre-stage II catheterization data for the trial subjects.

Stenting of the right ventricular outflow tract in the high-risk infant with cyanotic teratology of Fallot.

Neonatal tetralogy of Fallot (TOF) repair carries an increased risk of low birthweight or premature infants. Studies are investigating stents in the right ventricular outflow tract (RVOT) as an alternative to aortopulmonary shunts. The authors review their institutional experience with RVOT stenting in the high-risk infant with TOF.

Intervention for recoarctation in the single ventricle reconstruction trial: incidence, risk, and outcomes.

Background: Recoarctation after the Norwood procedure increases risk for mortality. The Single Ventricle Reconstruction (SVR) trial randomized subjects with a single right ventricle undergoing a Norwood procedure to a modified Blalock-Taussig shunt or a right ventricle-pulmonary artery shunt. We sought to determine the incidence of recoarctation, risk factors, and outcomes in the SVR trial.

Leftward displacement of septum primum in hypoplastic left heart syndrome.

Embryologic development of atrial septum primum antedates formation of the atrioventricular and semilunar valves. Leftward displacement of the superior attachment of septum primum (LDSP) has only been described in hypoplastic left heart syndrome (HLHS). This study reports the frequency of LDSP in HLHS and correlates LDSP with other echocardiographic features of HLHS.

Dual-axis rotational coronary angiography: a new technique for detecting graft coronary vasculopathy in pediatric heart transplant recipients.

Annual surveillance coronary angiograpyhy to screen for graft coronary vasculopathy is routine practice after orthotopic heart transplantation. Traditionally, this is performed with direct coronary angiography using static single-plane or biplane angiography. Recently, technological advances have made it possible to perform dual-axis rotational coronary angiography (RA).

Including aortic valve morphology in computational fluid dynamics simulations: initial findings and application to aortic coarctation.

Computational fluid dynamics (CFD) simulations quantifying thoracic aortic flow patterns have not included disturbances from the aortic valve (AoV). 80% of patients with aortic coarctation (CoA) have a bicuspid aortic valve (BAV) which may cause adverse flow patterns contributing to morbidity. Our objectives were to develop a method to account for the AoV in CFD simulations, and quantify its impact on local hemodynamics.

Timing and technique of pulmonary valve replacement in the patient with tetralogy of Fallot.

Residual right ventricular (RV) outflow tract pathology is universal among patients with repaired tetralogy of Fallot, and pulmonary regurgitation (PR) is also commonly present. Although tolerated in early life, by the second decade of life PR is associated with an increased risk of death because of ventricular arrhythmias. Pulmonary valve replacement (PVR) is a safe procedure that will eliminate PR, but timing and indications are evolving.

Human gene copy number spectra analysis in congenital heart malformations.

The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations.

Exploring the environmental and genetic etiologies of congenital heart defects: the Wisconsin Pediatric Cardiac Registry.

Introduction: The Wisconsin Pediatric Cardiac Registry (WPCR) collects information on infants born in the state of Wisconsin with structural congenital heart disease (CHD).

Methods: The WPCR actively ascertains CHD cases in the state of Wisconsin. Cases must be conceived and born in Wisconsin after January 1, 2000.

Aortic exclusion: a method of handling aortic insufficiency in the pediatric population needing mechanical circulatory support.

Aortic insufficiency (AI) is generally regarded as a contraindication for mechanical circulatory support in children. In the current Berlin EXCOR trial, moderate to severe AI is an exclusion criterion. There are reports in the literature of successful mechanical circulatory support (MCS) in adult patients with significant AI via "aortic exclusion" or bioprosthetic aortic valve replacement.

Modeling geographic risk of complex congenital heart defects in Eastern Wisconsin.

Background: Geographic variation may be an indicator of risk factors for birth defects. This study models the geographic distribution of three complex congenital heart defects (CHDs) in eastern Wisconsin, and evaluates effects of demographic census variables linked to geographic location.

Methods: Cases of Hypoplastic Left Heart Syndrome (HLHS), Tetralogy of Fallot (TOF) and d-Transposition of the Great Arteries (d-TGAs) born between1995 and 2004 were identified from three medical centers serving eastern Wisconsin.

Fontan palliation in the modern era: factors impacting mortality and morbidity.

Background: Advances in management of the Fontan patient include interval superior cavopulmonary shunt, total cavopulmonary connection, either lateral tunnel or extracardiac conduit, and the use of a fenestration. Coincident with these improvements, Fontan palliation has been applied to a wider ranger of anatomic subgroups.

Methods: A cross-sectional analysis of 256 consecutive patients undergoing a total cavopulmonary connection Fontan after superior cavopulmonary shunt between January 1, 1994, and June 30, 2007 were studied.

How we approach peripheral pulmonary stenosis in Williams-Beuren syndrome.

Williams-Beuren syndrome is associated with supravalvar aortic stenosis and peripheral pulmonary artery stenosis in the majority of affected individuals. Among patients in whom surgery for supravalvar aortic stenosis is contemplated, stenosis of the branch pulmonary arteries is common. For asymptomatic patients with subsystemic right ventricular pressure, the natural history is favorable and no intervention is necessary.

The Wisconsin Pediatric Cardiac Registry: a mechanism for exploring etiologies of congenital heart defects.

On January 1, 2000, the Wisconsin Pediatric Cardiac Registry began registering families of infants born with a congenital heart defect (CHD) in Wisconsin. Pediatric cardiologists across the state developed the Registry as a database and as a research study exploring potential etiologies of CHDs. Participating pediatric cardiologists identify the infants and refer families to the Registry.

Ventricular septal defect and aortic valve regurgitation: pathophysiology and indications for surgery.

As the velocity of a fluid increases a low-pressure zone is created, this is the Venturi effect and it explains the pathogenesis of aortic valve prolapse (AVP) and aortic insufficiency (AI) that is observed in a subset of patients with a ventricular septal defect (VSD). The VSDs complicated by AI are restrictive with high velocity shunting through the VSD, creating a low-pressure zone that impacts the adjacent aortic valve cusp resulting in AVP and subsequent AI. AVP and AI are therefore acquired lesions.

Toward the etiologies of congenital heart diseases.

Congenital heart disease remains a significant cause of morbidity and mortality. In recent years, significant advances in molecular genetics, improved understanding of morphogenesis, recognition of specific patterning of abnormalities within and between species, and the impact of the Human Genome Project have accounted for these advances. Continued rapid developments in genomics and proteomics are anticipated.