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.

Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.

Background: LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are two rare neuromuscular diseases characterized by proximal and axial muscle weakness, scoliosis, spinal rigidity, low bone quality and respiratory impairment. Cardiac involvement has previously been described in retrospective studies and case reports, but large case series and prospective studies in unselected cohorts are lacking.

Objective: The objective of this study is to conduct prevalence estimations, perform cardiac phenotyping, and provide recommendations for clinical care.

Left ventricular strain-volume loops and myocardial fibrosis in pediatric patients with Duchenne muscular dystrophy.

Background: The left ventricular strain-volume loop (SVL) combines changes in global longitudinal strain (GLS) and LV volume across a cardiac cycle, providing insight into cardiac dynamics. This study explored the association between left ventricular SVL and presence of fibrosis, assessed with late gadolinium enhancement, in patients with Duchenne muscular dystrophy (DMD).

Methods And Results: 34 pediatric patients with DMD were included.

Thyroid dysfunction in pediatric Fontan patients is associated with unfavorable hemodynamic status and severity of protein-losing enteropathy: A report from the Fontan care network.

Background: Thyroid dysfunction may have adverse effects on Fontan hemodynamics. Data on thyroid function in pediatric Fontan patients with or without protein-losing enteropathy (PLE) are limited.

Methods: This retrospective multicenter study included 67 Fontan patients (median age 10.

-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study.

Background And Objectives: -related muscular dystrophy (-MD) is a rare neuromuscular disease characterized by proximal and axial muscle weakness, rigidity of the spine, scoliosis, and respiratory impairment. No curative treatment options exist, yet promising preclinical studies are ongoing. Currently, there is a paucity on natural history data, and appropriate clinical and functional outcome measures are needed.

Left ventricular deformation and myocardial fibrosis in pediatric patients with Duchenne muscular dystrophy.

Background: Left ventricular (LV) strain and rotation are emerging functional markers for early detection of LV dysfunction and have been associated with the burden of myocardial fibrosis in several disease states. This study examined the association between LV deformation (i.e.

Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.

LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are rare neuromuscular diseases caused by mutations in the LAMA2 and SELENON (SEPN1) gene, respectively. Systematic reviews on cardiac features in both neuromuscular diseases are lacking. This scoping review aims to elucidate the cardiac involvement in LAMA2-MD or SELENON-RM.

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Isolated long-chain 3-keto-acyl CoA thiolase (LCKAT) deficiency is a rare long-chain fatty acid oxidation disorder caused by mutations in LCKAT is part of a multi-enzyme complex called the mitochondrial trifunctional protein (MTP) which catalyzes the last three steps in the long-chain fatty acid oxidation. Until now, only three cases of isolated LCKAT deficiency have been described. All patients developed a severe cardiomyopathy and died before the age of 7 weeks.

Fontan Circulation Associated Organ Abnormalities Beyond the Heart, Lungs, Liver, and Gut: A Systematic Review.

Introduction: Patients with a Fontan circulation are at risk for sequelae of Fontan physiology during follow-up. Fontan physiology affects all organ systems and an overview of end-organ damage is needed.

Methods: We performed a systematic review of abnormalities in multiple organ systems for patients with a longstanding Fontan circulation.

Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy.

Objectives: The goal of this study was to describe characteristics, cascade screening results, and predictors of adverse outcome in pediatric-onset arrhythmogenic right ventricular cardiomyopathy (ARVC).

Background: Although ARVC is increasingly recognized in children, pediatric ARVC cohorts remain underrepresented in the literature.

Methods: This study included 12 probands with pediatric-onset ARVC (aged <18 years at diagnosis) and 68 pediatric relatives (aged <18 years at first evaluation) referred for cascade screening.

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.

Background: SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mutations in the LAMA2 gene (LAMA2-related muscular dystrophy, LAMA2-MD) has a similar clinical phenotype, with either a severe, early-onset due to complete Laminin subunit α2 deficiency (merosin-deficient congenital muscular dystrophy type 1A (MDC1A)), or a mild, childhood- or adult-onset due to partial Laminin subunit α2 deficiency. For both muscle diseases, no curative treatment options exist, yet promising preclinical studies are ongoing.

The added value of the electrocardiogram in Noonan syndrome.

Noonan syndrome is a genetic disorder characteried by short stature, typical facial features, developmental delay, and CHD. In this single-centre retrospective study, we analysed typical Noonan syndrome-related electrocardiographic features in 95 patients with clinically and molecularly confirmed Noonan syndrome. Typical Noonan syndrome-related electrocardiographic features are left axis deviation, small left precordial R-waves, large right precordial S-waves, abnormal Q-wave, and abnormal wide QRS complex.

Comparability of different Z-score equations for aortic root dimensions in children with Marfan syndrome.

Background: Aortic root dilation is a major complication of Marfan syndrome and is one of the most important criteria in establishing the diagnosis. Currently, different echocardiographic nomograms are used to calculate aortic root Z-scores. The aim of the present study was to assess the potential differences in aortic root measurements when aortic root Z-scores were obtained in a cohort of paediatric Marfan patients using several published nomograms.

Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric Patient.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is rarely diagnosed in childhood. We describe the case of a 9-year-old girl with genetically confirmed ARVC who presented with syncope, ventricular arrhythmia, and biventricular myocardial dysfunction. This case highlights the need for development of pediatric ARVC diagnosis criteria specific for pediatric patients and discusses potential diagnostic improvement using echocardiographic deformation imaging.

Emerging clinical applications of strain imaging and three-dimensional echocardiography for the assessment of ventricular function in adult congenital heart disease.

Management of congenital heart disease (CHD) in adults (ACHD) remains an ongoing challenge due to the presence of residual hemodynamic lesions and development of ventricular dysfunction in a large number of patients. Echocardiographic imaging plays a central role in clinical decision-making and selection of patients who will benefit most from catheter interventions or cardiac surgery..

Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study.

Background: Primary hyperoxaluria (PH) is characterized by progressive chronic kidney disease (CKD) and systemic oxalate deposition. Myocardial dysfunction might be present early in the course of the disease. However, this hypothesis has not yet been tested in the PH population.

Successful biventricular cardiac resynchronization therapy in a failing Fontan patient: Implications of ventriculo-ventricular interdependency in single ventricle physiology.

We describe a Fontan patient with severe heart failure who was successfully treated with biventricular cardiac resynchronization therapy (CRT). Our case shows that strain imaging might play a crucial role in guiding placement of pacing leads and in characterizing the electromechanical substrate associated with a favorable CRT response. Furthermore, we demonstrate for the first time that ventriculo-ventricular interdependency seems an important mechanical concept, which can be utilized to augment cardiac performance in failing Fontan patients with a functional hypoplastic ventricle.

Off-label use of duct occluder devices to close hemodynamically significant perimembranous ventricular septal defects: A multicenter experience.

Objective: We sought to evaluate the feasibility, technical aspects, and outcome of transcatheter perimembranous ventricular septal defect (pmVSD) closure using duct occluder devices with a single retention disc.

Background: Use of duct occluder devices to close pmVSD seems a promising alternative therapy. However, limited data exist on this technique.

An Echocardiographic Screening Program Helps to Identify Pulmonary Hypertension in Extremely Low Birthweight Infants with and without Bronchopulmonary Dysplasia: A Single-Center Experience.

Background: Pulmonary hypertension (PH) affects 1 in 6 infants with a birthweight <1,000 g (extremely low birthweight; ELBW) and is frequently associated with bronchopulmonary dysplasia (BPD). If untreated, the mortality rates of the disease are high.

Objectives: The aim of this study was to characterize risk factors for PH in ELBW infants and to describe the timing of onset of the disease by setting up a screening program.

Toward evidence-based diagnosis of myocarditis in children and adolescents: Rationale, design, and first baseline data of MYKKE, a multicenter registry and study platform.

Unlabelled: The aim of this registry is to provide data on age-related clinical features of suspected myocarditis and to create a study platform allowing for deriving diagnostic criteria and, at a later stage, testing therapeutic interventions in patients with myocarditis.

Study Design And Results: After an initial 6-month pilot phase, MYKKE was opened in June 2014 as a prospective multicenter registry for patients from pediatric heart centers, university hospitals, and community hospitals with pediatric cardiology wards in Germany. Inclusion criteria consisted of age<18 years and hospitalization for suspected myocarditis as leading diagnosis at the discretion of the treating physician.

Stenting the Fontan pathway in paediatric patients with obstructed extracardiac conduits.

Objectives: An unobstructed extracardiac conduit (ECC) is essential for optimal Fontan haemodynamics. We aimed to evaluate the feasibility and results of percutaneous transcatheter stenting of the ECC in paediatric patients with a significant Fontan pathway obstruction.

Methods: Our institutional database was searched to identify all Fontan patients who had a stent placed in their ECC.

Disease control via intensified lipoprotein apheresis in three siblings with familial hypercholesterolemia.

Background: Familial hypercholesterolemia (FH), the prevalent monogenic form of hypercholesterolemia, carries the risk of premature coronary heart disease. Lipoprotein-apheresis is established in children with severe dyslipidemia. We present 3 siblings with a negative/negative residual low-density lipoprotein (LDL) receptor mutation (p.