Cardiac rehabilitation in children and adolescents with long QT syndrome: the RYTHMO'FIT pilot study.

Background: To assess the feasibility, acceptability, safety, and short-term benefits of a tailored cardiac rehabilitation program for children and adolescents with long QT syndrome (LQTS).

Methods: Eight participants, aged between 6 and 18, with a positive LQTS genotype and impaired cardiorespiratory fitness, were enrolled in a 12-week centre-based cardiac rehabilitation program. The program included supervised exercise training group sessions (aerobic, resistance, and outdoor activities) and patient education workshops.

Implications of right aortic arch prenatal diagnosis: the multicentric nationwide ARCADE cohort.

Objectives: This study aims to describe the various presentations of the prenatally diagnosed isolated right aortic arch (RAA), that is, without associated congenital heart defect and to evaluate the impact of prenatal diagnosis of isolated RAA in terms of postnatal outcome.

Method: In this multicentric retrospective study, from 2010 to 2019, all live births with a prenatal ultrasound diagnosis of isolated RAA were included, with a 1-year postnatal follow-up. The concordance between the different diagnostic steps (prenatal ultrasound, postnatal ultrasound and postnatal CT scan) was evaluated using Gwet's AC1 coefficient.

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.

Background: This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate the factors associated with HRQoL in this population. Sixty-three children with MFS and 124 age- and sex-matched healthy children were recruited. HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL™) generic questionnaire.

Cardiac magnetic resonance ventricular parameters correlate with cardiopulmonary fitness in patients with functional single ventricle.

Owing to advances in medical and surgical fields, patients with single ventricle (SV) have a greatly improved life expectancy. However, progressive functional deterioration is observed over time, with a decrease in cardiopulmonary fitness. This study aimed to identify, in patients with SV, the association between cardiac magnetic resonance imaging (CMR) parameters and change in cardiopulmonary fitness assessed by cardiopulmonary exercise test (CPET), and if certain thresholds could anticipate a decline in aerobic fitness.

Aerobic physical capacity and health-related quality of life in children with sickle cell disease.

Background: Aerobic fitness is a predictor of cardiovascular health which correlates with health-related quality of life in the general population. The aim is to evaluate the aerobic capacity by cardiopulmonary exercise test (CPET) in children with sickle cell disease in comparison with healthy matched controls.

Methods: Controlled cross-sectional study.

Early hybrid cardiac rehabilitation in congenital heart disease: the QUALIREHAB trial.

Background And Aims: Cardiopulmonary fitness in congenital heart disease (CHD) decreases faster than in the general population resulting in impaired health-related quality of life (HRQoL). As the standard of care seems insufficient to encourage and maintain fitness, an early hybrid cardiac rehabilitation programme could improve HRQoL in CHD.

Methods: The QUALIREHAB multicentre, randomized, controlled trial evaluated and implemented a 12-week centre- and home-based hybrid cardiac rehabilitation programme, including multidisciplinary care and physical activity sessions.

Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy.

Background: Duchenne muscular dystrophy (DMD) is an X-linked disorder characterized by progressive muscle weakness due to the absence of functional dystrophin. DMD patients also develop dilated cardiomyopathy (DCM). We have previously shown that DMD (mdx) mice and a canine DMD model (GRMD) exhibit abnormal intracellular calcium (Ca) cycling related to early-stage pathological remodelling of the ryanodine receptor intracellular calcium release channel (RyR2) on the sarcoplasmic reticulum (SR) contributing to age-dependent DCM.

Children With Cardiac Disease and Heat Exposure: Catastrophic Converging Consequences?

Unlabelled: The detrimental impact of extreme heat exposure on the health and well-being of children is widely acknowledged. The direct and indirect effects of climate change have led to an increased risk of certain cardiovascular events which may be particularly harmful to children who are born with, or develop, heart disease.

Purpose: To highlight the worrying paucity of investigative research aimed at differentiating how higher ambient temperatures further tax an already compromised cardiovascular system in children.

Generation of patient-specific induced pluripotent stem cell lines with Type 2 Long QT Syndrome and the KCNH2 c.379C > T pathogenic variant.

Type 2 Long QT Syndrome (LQT2) is a rare genetic heart rhythm disorder causing life-threatening arrhythmias. We derived induced pluripotent stem cell (iPSC) lines from two patients with LQT2, aged 18 and 6, both carrying a heterozygous missense mutation on the 3rd and 11th exons of KCNH2. The iPSC lines exhibited normal genomes, expressed pluripotent markers, and differentiated into trilineage embryonic layers.

Reference Values of Cardiopulmonary Exercise Test Parameters in the Contemporary Paediatric Population.

Background: The evaluation of health status by cardiopulmonary exercise test (CPET) has shown increasing interest in the paediatric population. Our group recently established reference Z-score values for paediatric cycle ergometer VO, applicable to normal and extreme weights, from a cohort of 1141 healthy children. There are currently no validated reference values for the other CPET parameters in the paediatric population.

Think out of the box: association of left congenital diaphragmatic hernia and abnormal origin of the right pulmonary artery : A train can hide another.

Background: We report the occurrence of a severe pulmonary hypertension (PH) in a neonate affected by a left congenital diaphragmatic hernia (CDH). PH in this patient was associated with an abnormal origin of the right pulmonary artery from the right brachiocephalic artery. This malformation, sometimes named hemitruncus arteriosus, has to the best of our knowledge never been reported in association with a CDH.

Use of new paediatric VO2max reference equations to evaluate aerobic fitness in overweight or obese children with congenital heart disease.

Aims: Overweight and obesity in children with congenital heart disease (CHD) represent an alarming cardiovascular risk. Promotion of physical activity and cardiac rehabilitation in this population requires assessing the level of aerobic fitness (VO2max) by a cardiopulmonary exercise test (CPET). Nevertheless, the interpretation of CPET in overweight/obese children with CHD remains challenging as VO2max is affected by both the cardiac condition and the body mass index (BMI).

Health-Related Quality of Life and Its Association With Outcomes in Adults With Congenital Heart Disease and Heart Failure: Insight From FRESH-ACHD Registry.

Background Quality of Life (QoL) is a prognostic factor in heart failure (HF) of patients with acquired cardiac disease. The aim of this study was to determine the predictive value of QoL on outcomes in adults with congenital heart disease (ACHD) and HF. Methods and Results Quality of life of 196 adults with congenital heart disease with clinical heart failure (HF) (mean age: 44.

Correlation between three-dimensional echocardiography and cardiopulmonary fitness in patients with univentricular heart: A cross-sectional multicentre prospective study.

Background: The prognosis of patients with a functional single ventricle has improved, with better cardiopulmonary fitness, health-related quality of life and survival. Conventional echocardiography remains the first-line technique in single ventricle follow-up. Three-dimensional (3D) echocardiography has shown recent value in congenital cardiology, but its ability to predict functional status in patients with a single ventricle remains unknown.

Cardiorespiratory fitness, muscle fitness, and physical activity in children with long QT syndrome: A prospective controlled study.

Background: In children with congenital long QT syndrome (LQTS), the risk of arrhythmic events during exercise commonly makes it difficult to balance exercise restrictions promotion of physical activity. Nevertheless, in children with LQTS, cardiorespiratory fitness, muscle fitness, and physical activity, have been scarcely explored.

Materials And Methods: In this prospective, controlled, cross-sectional study, 20 children with LQTS (12.

Impaired aerobic capacity in adolescents and young adults after treatment for cancer or non-malignant haematological disease.

Purpose: Childhood cancer survivors are at increased risk for cardiovascular disease. Maximal oxygen uptake (VO) is a major determinant of cardiovascular morbidity. The aim of this study was to compare aerobic capacity, measured by cardiopulmonary exercise test (CPET), of adolescents and young adults in remission with that of healthy controls and to identify the predictors of aerobic capacity in this population.

Risk factors for early occurrence of malnutrition in infants with severe congenital heart disease.

To identify the risk factors of early occurrence of malnutrition in infants with severe congenital heart disease (CHD) during their first year of life. Retrospective longitudinal multicenter study carried out from January 2014 to December 2020 in two tertiary care CHD centers. Four CHD hemodynamic groups were identified.

Cardiopulmonary fitness in children with asthma versus healthy children.

Objectives: To evaluate, with a cardiopulmonary exercise test (CPET), the cardiopulmonary fitness of children with asthma, in comparison to healthy controls, and to identify the clinical and CPET parameters associated with the maximum oxygen uptake (VO) in childhood asthma.

Design: This cross-sectional controlled study was carried out in CPET laboratories from two tertiary care paediatric centres. The predictors of VO were determined using a multivariable analysis.

Aerobic fitness change with time in children with congenital heart disease: A retrospective controlled cohort study.

Background: To evaluate the change in aerobic fitness (VO), measured by cardio-pulmonary exercise test (CPET), in children with congenital heart disease (CHD), compared to matched healthy controls, and identify predictors of VO change with time in this specific population.

Method: This longitudinal retrospective multicentre cohort study was carried out from 2010 to 2020. We included CHD paediatric patients from the cohort of a previous cross-sectional study, who had a second CPET at least 1 year after the first one, during their follow-up.

Participation in physical activity of adolescents with congenital heart disease.

Background: Participation in physical activity improves health in individuals with congenital heart disease. However, most do not sufficiently engage in physical activity. The aim of this study was to collect information regarding the experiences of adolescents with congenital heart disease who practiced physical activities.

Rationale, design and methodology of APPROACH-IS II: International study of patient-reported outcomes and frailty phenotyping in adults with congenital heart disease.

Background: In recent years, patient-reported outcomes (PROs) have received increasing prominence in cardiovascular research and clinical care. An understanding of the variability and global experience of PROs in adults with congenital heart disease (CHD), however, is still lacking. Moreover, information on epidemiological characteristics and the frailty phenotype of older adults with CHD is minimal.