30 Years' Experience in Percutaneous Pulmonary Artery Interventions in Transposition of the Great Arteries.

Background: Pulmonary artery (PA) stenosis is common after arterial switch operation (ASO) for transposition of the great arteries (TGA). Differences between balloon angioplasty (BA) and stents on right ventricular (RV) and PA pressures are not well studied.

Objectives: The purpose of this study was to analyze percutaneous PA interventions' frequency after ASO, complications, and the effects of BA and stents on RV and PA pressures.

Hybrid palliation to promote growth of left ventricle and left ventricular outflow tract.

Objectives: In patients with borderline left hearts or a severe left ventricular outflow tract obstruction, hybrid palliation can be used to stabilize the patient and postpone biventricular repair (BVR). In this study, we analysed growth of left-sided structures and outcomes of these patients.

Methods: We conducted a retrospective cohort study including patients who received hybrid palliation between January 2010 and September 2023.

Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals.

Background: The first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac and urogenital malformations. The aim of this study was to assess the prevalence of congenital abnormalities in an unbiased cohort of patients with FOXP1 syndrome and to document rare complications.

Methods: Patients with FOXP1 syndrome were included, mostly diagnosed via whole-exome sequencing for neurodevelopmental delay.

Transcatheter aortic valve-in-valve implantation in right ventricle-aorta conduit in an adult patient with Fontan circulation.

Catheter interventions can offer patient tailored solutions in high-risk congenital heart disease patients. A 21-year-old male with a Fontan circulation in the setting of unbalanced atrioventricular septal defect with a hypoplastic left ventricle and an aortic homograft connecting the right ventricular outflow tract to the ascending aorta, developed failure of the heavily calcified homograft with severe regurgitation and stenosis. He underwent three sequential transcatheter aortic valve-in-valve implantations to address the homograft failure and the subsequent paravalvular regurgitation, with satisfactory result and improved hemodynamics.

Combining Congenital Heart Surgical and Interventional Cardiology Outcome Data in a Single Database: The Development of a Patient-Centered Collaboration of the European Congenital Heart Surgeons Association (ECHSA) and the Association for European Paediatric and Congenital Cardiology (AEPC).

The European Congenital Heart Surgeons Association (ECHSA) Congenital Database (CD) is the second largest clinical pediatric and congenital cardiac surgical database in the world and the largest in Europe, where various smaller national or regional databases exist. Despite the dramatic increase in interventional cardiology procedures over recent years, only scattered national or regional databases of such procedures exist in Europe. Most importantly, no congenital cardiac database exists in the world that seamlessly combines both surgical and interventional cardiology data on an international level; therefore, the outcomes of surgical and interventional procedures performed on the same or similar patients cannot easily be tracked, assessed, and analyzed.

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.

Background: The arrhythmogenic cardiomyopathy (ACM) phenotype, with life-threatening ventricular arrhythmias and heart failure, varies according to genetic aetiology. We aimed to characterise the phenotype associated with the variant c.1211dup (p.

Combining Congenital Heart Surgical and Interventional Cardiology Outcome Data in a Single Database: The Development of a Patient-Centered Collaboration of the European Congenital Heart Surgeons Association (ECHSA) and the Association for European Paediatric and Congenital Cardiology (AEPC).

The European Congenital Heart Surgeons Association (ECHSA) Congenital Database (CD) is the second largest clinical pediatric and congenital cardiac surgical database in the world and the largest in Europe, where various smaller national or regional databases exist. Despite the dramatic increase in interventional cardiology procedures over recent years, only scattered national or regional databases of such procedures exist in Europe. Most importantly, no congenital cardiac database exists in the world that seamlessly combines both surgical and interventional cardiology data on an international level; therefore, the outcomes of surgical and interventional procedures performed on the same or similar patients cannot easily be tracked, assessed, and analyzed.

An unusual case of unilateral vascular hypoplasia in an adult patient - late diagnosis of PHACE syndrome.

A case of unilateral vascular hypoplasia is presented. A female patient was born with a complex aortic arch anatomy - a double aortic arch with an interrupted left arch. Surgical correction was performed at the age of 3 months.

AEPC recommendations for training in interventional catheterisation for CHD.

To reflect new developments in imaging, indications, and techniques in catheterisation of patients with CHD, the training recommendations of the Association for European Paediatric and Congenital Cardiology (AEPC) for the training in interventional catheterisation for CHD have been reviewed and updated after more than 7 years. They include detailed information about knowledge, skills, and approach to clinical practice expected from trainees at basic, intermediate, and advanced level.

Growth of the aortic root in children and young adults with Marfan syndrome.

Objectives: The primary aim was to gain insight into the growth of the aortic root in children and young adults with Marfan syndrome (MFS). Furthermore, we aimed to identify a clinical profile of patients with MFS who require an aortic root replacement at a young age with specific interest in age, sex, height and fibrillin-1 () genotype.

Methods: Aortic root dimensions of 97 patients with MFS between 0 year and 20 years and 30 controls were serially assessed with echocardiography.

Delayed biventricular repair of interrupted aortic arch with left ventricular outflow tract obstruction in 22q11.2 deletion syndrome: a case report.

In patients with critical left ventricular outflow tract obstruction but adequately sized ventricles, the treatment of choice is biventricular repair. Several options have been proposed, including neonatal Yasui or Ross-Konno operation. However, each of these procedures carries a high mortality risk, especially in syndromic neonates.

Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy.

Background: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of left ventricular hypertrophy has a nonlinear relationship with SCD, but it is not known whether the same complex relationship is seen in childhood. The aim of this study was to describe the relationship between left ventricular hypertrophy and SCD risk in a large international pediatric HCM cohort.

Consolidation of the clinical and genetic definition of a related neurodevelopmental syndrome.

Background: A neurodevelopmental syndrome was recently reported in four patients with heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this syndrome.

Methods: We newly identified 17 patients with variants, predicted variant pathogenicity using in silico tests and in vitro functional assays and analysed the patients' phenotypes.

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.

The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy.

Aims: The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for risk stratification, but this has not been independently validated. This aim of this study was to describe the ECG phenotype of childhood HCM in a large, international, multi-centre cohort and investigate its role in risk prediction for arrhythmic events.

The Leiden Convention coronary coding system: translation from the surgical to the universal view.

Aims: The Leiden Convention coronary coding system structures the large variety of coronary anatomical patterns; isolated and in congenital heart disease. It is widely used by surgeons but not by cardiologists as the system uses a surgeons' cranial view. Since thoracic surgeons and cardiologists work closely together, a coronary coding system practical for both disciplines is mandatory.

Left heart growth and biventricular repair after hybrid palliation.

Objectives: We evaluated the outcomes of biventricular repair after initial hybrid palliation performed in small infants with various forms of left ventricle hypoplasia.

Methods: Between September 2010 and January 2020, a total of 27 patients had biventricular repair after hybrid palliation at a median age of 11 days. Indications for the hybrid approach included growth promotion of the left ventricle outflow tract and/or the aortic valve in 14 patients and that of the left ventricle in 13 patients.

Critical Coarctation of the Aorta in Selective Fetal Growth Restriction and the Role of Coronary Stent Implantation.

Introduction: Monochorionic twins are at increased risk of congenital heart defects (CHDs). Up to 26% have a birth weight <1,500 g, a CHD requiring neonatal surgery, therefore, poses particular challenges.

Objective: The aim of the study was to describe pregnancy characteristics, perinatal management, and outcome of monochorionic twins diagnosed with critical coarctation of the aorta (CoA).

Pulmonary ductal coarctation and left pulmonary artery interruption; pathology and role of neural crest and second heart field during development.

Objectives: In congenital heart malformations with pulmonary stenosis to atresia an abnormal lateral ductus arteriosus to left pulmonary artery connection can lead to a localised narrowing (pulmonary ductal coarctation) or even interruption We investigated embryonic remodelling and pathogenesis of this area.

Material And Methods: Normal development was studied in WntCre reporter mice (E10.0-12.

Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids).

Importance: Sudden cardiac death (SCD) is the most common mode of death in childhood hypertrophic cardiomyopathy (HCM), but there is no validated algorithm to identify those at highest risk.

Objective: To develop and validate an SCD risk prediction model that provides individualized risk estimates.

Design, Setting, And Participants: A prognostic model was developed from a retrospective, multicenter, longitudinal cohort study of 1024 consecutively evaluated patients aged 16 years or younger with HCM.

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

The first human mutations in GATA6 were described in a cohort of patients with persistent truncus arteriosus, and the phenotypic spectrum has expanded since then. This study underscores the broad phenotypic spectrum by presenting two patients with de novo GATA6 mutations, both exhibiting complex cardiac defects, pancreatic, and other abnormalities. Furthermore, we provided a detailed overview of all published human genetic variation in/near GATA6 published to date and the associated phenotypes (n = 78).

Acute and midterm outcomes of the post-approval MELODY Registry: a multicentre registry of transcatheter pulmonary valve implantation.

Aims: The post-approval MELODY Registry aimed to obtain multicentre registry data after transcatheter pulmonary valve implantation (TPVI) with the Melody™ valve (Medtronic plc.) in a large-scale cohort of patients with congenital heart disease (CHD).

Methods And Results: Retrospective analysis of multicentre registry data after TPVI with the Melody™ valve.