The use of submaximal parameters in the assessment of exercise capacity in children with obesity.

Background: Peak oxygen uptake (VO) is considered the most important indicator of aerobic exercise capacity during cardiopulmonary exercise testing (CPET). However, its accuracy is compromised when maximal effort is not achieved. In such cases, submaximal parameters can serve as surrogates for assessing exercise performance.

Health-Related Quality of Life After Neonatal Treatment of Symptomatic Tetralogy of Fallot: Insights from the Congenital Cardiac Research Collaborative.

To evaluate the association between initial management strategy of neonatal symptomatic Tetralogy of Fallot (sTOF) and later health-related quality of life (HRQOL) outcomes. We performed a multicenter, cross-sectional evaluation of a previously assembled cohort of infants with sTOF who underwent initial intervention at ≤ 30 days of age, between 2005 and 2017. Eligible patients' parents/guardians completed an age-appropriate Pediatric Quality of Life Inventory, a Pediatric Quality of Life Inventory Cardiac Module Heart Disease Symptoms Scale, and a parental survey.

Repurposing of glatiramer acetate to treat cardiac ischemia in rodent models.

Myocardial injury may ultimately lead to adverse ventricular remodeling and development of heart failure (HF), which is a major cause of morbidity and mortality worldwide. Given the slow pace and substantial costs of developing new therapeutics, drug repurposing is an attractive alternative. Studies of many organs, including the heart, highlight the importance of the immune system in modulating injury and repair outcomes.

Egr1 regulates regenerative senescence and cardiac repair.

Senescence plays a key role in various physiological and pathological processes. We reported that injury-induced transient senescence correlates with heart regeneration, yet the multi-omics profile and molecular underpinnings of regenerative senescence remain obscure. Using proteomics and single-cell RNA sequencing, here we report the regenerative senescence multi-omic signature in the adult mouse heart and establish its role in neonatal heart regeneration and agrin-mediated cardiac repair in adult mice.

Leadless Pacemaker Implantation in Fontan Patients with Multimodality Imaging: Tips and Tricks.

Current leadless pacemaker (LP) systems, which have been developed and used in patients with normal cardiac anatomy, are rare and technically even more challenging to implant in patients with congenital heart diseases, especially with univentricular physiology and Fontan palliation. We report two cases of percutaneous LP implantation in an adult and a child, respectively, highlighting the unconventional approaches, different challenges, and use of multimodality imaging in patients who underwent a Fontan operation.

"You Have to Find a Way for This Child to Be at the Center": Pediatric Cardiologists' Views on Triadic Communication in Consultations on Congenital Heart Defects.

Congenital heart defects (CHDs) are present at birth and require ongoing management of personal, family, and medical aspects of care, including communication between family and medical staff. Effective communication is considered one of the main objectives of patient-centered care. Communication in pediatric medicine is especially challenging because it includes children and their parent(s), and children's cognitive and communication skills are still developing.

Guidelines for Performing a Comprehensive Pediatric Transthoracic Echocardiogram: Recommendations From the American Society of Echocardiography.

Echocardiography is a fundamental component of pediatric cardiology, and appropriate indications have been established for its use in the setting of suspected, congenital, or acquired heart disease in children. Since the publication of guidelines for pediatric transthoracic echocardiography in 2006 and 2010, advances in knowledge and technology have expanded the scope of practice beyond the use of traditional modalities such as two-dimensional, M-mode, and Doppler echocardiography to evaluate the cardiac segmental structures and their function. Adjunct modalities such as contrast, three-dimensional, and speckle-tracking echocardiography are now used routinely at many pediatric centers.

Competitive Sports Participation is Associated with Decreased Risk of Obesity in Children with Bicuspid Aortic Valve.

Individuals with bicuspid aortic valve (BAV) have historically been advised to avoid contact sports and isometric exercise for risk of increasing aortic dilation and valve disease. There is mounting evidence that current sports participation guidelines qualify children for a high rate of sports exclusion, and that this population is at increased risk of obesity. The primary aim of this study was to evaluate relationship between sports participation and aortic dilation in children with bicuspid aortic valve and secondarily the relationship between competitive sports participation and obesity.

Significant exercise limitations after recovery from MIS-C related myocarditis.

Background: Myocarditis is one of the presentations of multisystemic inflammatory syndrome in children (MIS-C) following coronavirus disease 2019 (COVID-19). Although the reported short-term prognosis is good, data regarding medium-term functional capacity and limitations are scarce. This study aimed to evaluate exercise capacity as well as possible cardiac and respiratory limitations in children recovered from MIS-C related myocarditis.

Prenatal diagnosis of isolated coronary artery fistula: systematic review, analysis of perinatal prognostic factors and case report.

Background: Isolated coronary artery fistula (CAF) is a rare entity in which evidence for both prognosis and need for perinatal treatment is lacking. We aim to evaluate the characteristics, evolution and perinatal outcomes of reported cases, including one from our center.

Material And Methods: We performed a systematic review in Medline, Pubmed, and Embase databases for cohort studies or case series related to prenatally diagnosed isolated congenital CAF according to PRISMA guidelines.

Primary neonatal and pediatric ECMO transport: First experience in Spain.

Introduction: The organization of primary Extracorporeal membrane oxygenation (ECMO) transport is highly variable.

Methods: To present the experience of the first mobile pediatric ECMO program in Spain, we designed a prospective descriptive study of all primary neonatal and pediatric (0-16 years) ECMO transports carried out over 10 years. The main variables recorded include demographic information, patient background, clinical data, ECMO indications, adverse events, and main outcomes.

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.

Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric subspecialties, it is not yet routinely used by general pediatric hospitalists. We aim to investigate the impact of exome sequencing in sequencing-naive children suspected of having monogenic disorders while receiving inpatient care.

Common Arterial Trunk in Fetal Life: Accuracy of Diagnosis and Prediction of Outcome.

Introduction: Common arterial trunk (CAT) is a congenital heart disease with significant perinatal mortality in which diagnostic agreement remains low.

Methods: We conducted a retrospective cohort study on fetuses with suspected CAT. Diagnostic accuracy was tested considering gold-standard postnatal ultrasound or necropsy.

The Compatibility of Children with Obesity to Self-Report Aspects of Physical Activity Domains.

Questions about the different aspects of physical activity (PA) are commonly asked in the clinical setting, yet their compatibility for use with children, particularly children with obesity (OB) is uncertain. Our aim was to investigate different PA-related questions when compared to an objective maximal cardiopulmonary exercise test (CPET) or validated questionnaires. For this study, 33 normal-weight (NW) (5 to less than 85% BMI percentile) and 35 OB (≥95% BMI percentile) children responded to three self-report PA questions evaluating PA domains (exercise capacity, limitations, and the maintenance of an active lifestyle); they also completed a maximal CPET and two validated questionnaires: the New York Heart Association (NYHA) questionnaire and the international physical activity questionnaire (IPAQ).

Right ventricular outflow tract landing zone perimeter / circularised diameter - new imaging standards in pulmonary valve replacement reporting.

Background: Right ventricular outflow tract intervention spans transcatheter, surgical, or hybrid pulmonary valve replacement methodologies. Standardised pre-procedure workup includes cardiac MRI to identify an intended valve site (landing zone). Our institutional practice includes measurement of the right ventricular outflow tract perimeter (circumference) of this site in end-systole.

Percutaneous transhepatic and transseptal dilatation of a surgically implanted Melody Valve in the mitral position in a 2-year-old child.

The use of the Melody (Medtronic, Minneapolis, MN, USA) biological prosthesis in mitral position has shown acceptable short-term results. Furthermore, it allows its expansion with a balloon when the patient grows up, and this procedure can be performed by a venous catheterization through transseptal approach through an interatrial communication or puncturing the septum. Patients with complex congenital heart disease undergoing multiple surgical and percutaneous interventions may present with vascular complications such as thrombosis of the femoral venous system that make percutaneous access impossible.

Vici syndrome in Israel: Clinical and molecular insights.

Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It is mainly characterized by global developmental delay, seizures, agenesis of the corpus callosum, hair and skin hypopigmentation, bilateral cataract, and varying degrees of immunodeficiency, among other features. Vici Syndrome is caused by biallelic pathogenic variants in , resulting in impaired autophagy.

Differences in severity of cardiovascular anomalies in children with Noonan syndrome based on the causative gene.

Background: Noonan syndrome (NS) is a genetic syndrome, characterized by various dysmorphic features, cardiac anomalies, short stature, and developmental delay. NS is a leading cause of cardiovascular anomalies. The syndrome results from dysregulation in the RAS-MAPK pathway and is related to the RASopathy family syndromes.

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

Purpose: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis.

Methods: Clinical, genomic, biochemical, and functional studies were performed alongside in vivo modeling of DAW1 variants.

Vigilance in the Decision-Making Process Regarding Termination of Pregnancy Following Prenatal Diagnosis of Congenital Heart Disease-Application of the 'Conflict Decision-Making Model'.

The decision-making process regarding termination of pregnancy following prenatal diagnosis of congenital heart disease is a stressful experience for future parents. Janis and Mann’s conflict decision-making model describes seven ideal stages that comprise vigilant information-gathering as an expression of the qualitative decision-making process. In our study, we attempted to determine whether parents who face the decision regarding termination of pregnancy undertake a qualitative decision-making process.

Scimitar syndrome and left pulmonary vein stenosis: A serious and rare association.

Scimitar syndrome is a rare constellation of cardiovascular anomalies consisting of partial right anomalous pulmonary venous drainage to the inferior vena cava, hypoplasia of the right lung, cardiac dextroposition, and in many cases, one or more aortopulmonary collaterals from the descending aorta to the hypoplastic lung. The "infantile form" commonly presents with significant heart failure and pulmonary hypertension. Stenosis of the left pulmonary veins associated with scimitar syndrome is a rare but well-described combination, usually associated with a poor prognosis.