Bedside right ventricle quantification using three-dimensional echocardiography in children with congenital heart disease: A comparative study with cardiac magnetic resonance imaging.

Background: Accurate quantification of right ventricular (RV) volumes and function is crucial for the management of congenital heart diseases.

Aims: We aimed to assess the feasibility and accuracy of bedside analysis using new RV quantification software from three-dimensional transthoracic echocardiography in children with or without congenital heart disease, and to compare measurements with cardiac magnetic resonance imaging.

Methods: We included paediatric patients with congenital heart disease (106 patients) responsible for RV volume overload and a control group (30 patients).

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.

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.

Usefulness of perioperative transoesophageal echocardiography during paediatric cardiac surgery.

Background: Paediatric transoesophageal echocardiography probes allow perioperative evaluation during paediatric congenital heart disease surgery.

Aim: To assess the usefulness of perioperative transoesophageal echocardiography in evaluating the severity of residual lesions, based on the type of congenital heart disease repaired in paediatric patients.

Methods: A retrospective analysis was conducted on paediatric patients who underwent open-heart surgery at our tertiary centre over a four-year period.

Advancing paediatric cardiac imaging: a comprehensive analysis of the feasibility and accuracy of a novel 3D paediatric transoesophageal probe.

Aims: Pediatric transoesophageal echocardiography (TOE) probes have remained two-dimensional (2D) limiting their use compared to adults. While critical in pediatrics for interventions and post-surgery assessments, technological advancements introduced a three-dimensional (3D) pediatric TOE probe. This study assessed the new 3D pediatric TOE probe (GE 9VT-D) for feasibility, handling, and imaging quality.

Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age.

Purpose: The study sought to estimate the prevalence of primary non-aortic lesions (PNAL) unrelated to extension of aortic dissection (AD) in a cohort of patients with Marfan syndrome (MFS).

Methods: Adult patients presenting with pathogenic FBN1 mutations and an available pan-aortic contrast-enhanced CTA in eight French MFS clinics from April to October 2018 were included. Clinical and radiological data, particularly the presence of aortic lesions and PNAL (including aneurysm and ectasia), were retrospectively analyzed.

Impact of 3D-printed models in meetings with parents of children undergoing interventional cardiac catheterisation.

Background: Paediatric interventional catheterisation has consistently improved in recent decades, with often highly successful outcomes. However, progress is still required in terms of the information delivered to parents and how parental anxiety is managed.

Aim: To investigate the impact of cardiac printed models on improving parental understanding and alleviating anxiety before interventional catheterisation.

Radiation dose during catheter ablation in children using a low fluoroscopy frame rate.

Background: Catheter ablation (CA) in children using fluoroscopy carries risks inherent to ionizing radiation exposure.

Aims: The objective of this study was to demonstrate the feasibility of using low frames rate during ablation in children to maximally decrease radiation dose.

Methods: Hundred sixty eight successive patients<18 years of age undergoing CA performed under a 3.

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

Background: Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).

Methods And Results: We report a family referred for molecular diagnosis with HTAAD/PDA phenotype in which we found a variant at a non-conserved position of the 5' donor splice site of intron 32 of MYH11 potentially altering splicing (NM_002474.3:c.

The usefulness of 3D printed heart models for medical student education in congenital heart disease.

Background: Three-dimensional (3D) printing technology enables the translation of 2-dimensional (2D) medical imaging into a physical replica of a patient's individual anatomy and may enhance the understanding of congenital heart defects (CHD). We aimed to evaluate the usefulness of a spectrum of 3D-printed models in teaching CHD to medical students.

Results: We performed a prospective, randomized educational procedure to teach fifth year medical students four CHDs (atrial septal defect (ASD, n = 74), ventricular septal defect (VSD, n = 50), coarctation of aorta (CoA, n = 118) and tetralogy of Fallot (ToF, n = 105)).

Echocardiographic Parameters Predictive of Poor Outcome in Persistent Pulmonary Hypertension of the Newborn (PPHN): Preliminary Results.

The aim is to conduct a pilot study to prospectively describe echocardiographic parameters in neonates with pulmonary hypertension (PH) managed according to current recommendations and to identify those parameters that could predict worsening of short-term outcomes. All neonates less than 28 days old with a diagnosis of PH were prospectively enrolled in a tertiary care center for 1 year. Two echocardiograms were performed by a trained neonatologist.

Feasibility and accuracy of printed models of complex cardiac defects in small infants from cardiac computed tomography.

Background: Three-dimensional (3-D) printed models are increasingly used to enhance understanding of complex anatomy in congenital heart disease.

Objective: To assess feasibility and accuracy of 3-D printed models obtained from cardiac CT scans in young children with complex congenital heart diseases.

Materials And Methods: We included children with conotruncal heart anomalies who were younger than 2 years and had a cardiac CT scan in the course of their follow-up.

Impact of a transition education program on health-related quality of life in pediatric patients with congenital heart disease: study design for a randomised controlled trial.

Background: Recent advances in the field of congenital heart disease (CHD) led to an improved prognosis of the patients and in consequence the growth of a new population: the grown up with congenital heart disease. Until recently, more than 50% of these patients were lost to follow up because of the lack of specialized structures. The critical moment is the transition between paediatric and adult unit.

Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

Marfan syndrome (MFS) is a heritable connective tissue disorder (HCTD) caused by pathogenic variants in FBN1 that frequently occur de novo. Although individuals with somatogonadal mosaicisms have been reported with respect to MFS and other HCTD, the overall frequency of parental mosaicism in this pathology is unknown. In an attempt to estimate this frequency, we reviewed all the 333 patients with a disease-causing variant in FBN1.

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.

Background: Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in terms of management, particularly to avoid dissection and sudden death. These vascular damages are classically associated with premature osteoarthritis and skeletal abnormalities.

Impact of Sophrology on cardiopulmonary fitness in teenagers and young adults with a congenital heart disease: The SOPHROCARE study rationale, design and methods.

Background: Recent advances in the field of congenital heart disease (CHD) have significantly improved the overall prognosis. Now more attention is being given to health-related quality of life (HRQoL) and promotion of physical activity. Non-invasive relaxation therapy may be effective in cardiac patients concerned with exercise-induced dyspnoea.

Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome.

Background: Little is known about the incidence of cardiovascular events (CVEs) and their associated risk markers in children with Marfan syndrome (MFS).

Aims: To assess the incidence of CVEs and determine risk markers in a cohort diagnosed with Marfan syndrome during childhood and followed for several years.

Methods: From a French multicentre nationwide database, 462 patients with MFS diagnosed during childhood were included prospectively.

Factors influencing the participation of adolescents and young adults with a congenital heart disease in a transition education program: A prospective multicentre controlled study.

Objective: Transition education programs dedicated to adolescents and young adults with congenital heart disease (CHD) aim to facilitate transfer to adult cardiology and bring more autonomy to teenagers. This prospective controlled multicentre study analysed the factors influencing the participation in a transition education program.

Methods: CHD patients aged 13-25 y were offered to participate in the transition program.