A validated heart-specific model for splice-disrupting variants in childhood heart disease.

Background: Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the loss or creation of exon boundaries are not routinely captured and/or evaluated by standard clinical genetic tests.

Left atrial appendage aneurysm in pediatrics: Case study and literature review.

Left atrial appendage aneurysm (LAAA) is a rare cardiac pathology that is often identified in adulthood. There are a myriad of presentations related to atrial appendage enlargement, but most are asymptomatic. Pediatric cases of LAAA are extremely rare.

Age and Sex Differences in the Genetics of Cardiomyopathy.

Cardiomyopathy has variable penetrance. We analyzed age and sex-related genetic differences in 1,397 cardiomyopathy patients (Ontario, UK) with whole genome sequencing. Pediatric cases (n = 471) harbored more deleterious protein-coding variants in Tier 1 cardiomyopathy genes compared to adults (n = 926) (34.

Impact of the 2022 American Heart Association pediatric ambulatory blood pressure monitoring statement on the diagnosis of hypertension.

Background: The diagnosis of hypertension and hypertension-induced target organ injury by the 2022 American Heart Association (AHA) ambulatory blood pressure threshold as compared with 2014 AHA and 2016 European Society of Hypertension (ESH) thresholds has not been evaluated.

Methods: In a cross-sectional study (n = 291, aged 5-18 years, at a tertiary care outpatient clinic), we compared 2022 AHA with 2014 AHA and ESH thresholds (revised with 2018 adult ESH thresholds where applicable) to diagnose ambulatory hypertension (AH), and detect ambulatory arterial stiffness index (AASI) and left ventricular target organ injury (LVTOI).

Results: The 2022 AHA threshold diagnosed significantly more AH (53%) than the 2014 AHA (42%, p < 0.

Ambulatory hypertension diagnosed by 24-h mean ambulatory versus day and night ambulatory blood pressure thresholds in children: a cross-sectional study.

Background: The agreement between the commonly used ambulatory blood pressure (ABP) thresholds to diagnose ambulatory hypertension in children (patient's 24-h mean ABP classified by 24-h 95th ABP percentile threshold, American Heart Association [AHA] threshold, or patient's day and night mean ABP classified by day-night 95th ABP percentile thresholds) is not known. We evaluated the agreement among 24-h ABP threshold, AHA threshold, and day-night ABP thresholds to diagnose ambulatory hypertension, white coat hypertension (WCH) and masked hypertension (MH).

Methods: In a cross-sectional study design, we analyzed ABP recordings from 450 participants with suspected hypertension from a tertiary care outpatient hypertension clinic.

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.

Diagnosis of hypertension: Ambulatory pediatric American Heart Association/European Society of Hypertension versus blood pressure load thresholds.

The agreement between the traditionally-used ambulatory blood pressure (ABP)-load thresholds in children and recently-recommended pediatric American Heart Association (AHA)/European Society of Hypertension (ESH) ABP thresholds for diagnosing ambulatory hypertension (AH), white coat hypertension (WCH), and masked hypertension (MH) has not been evaluated. In this cross-sectional study on 450 outpatient participants, the authors evaluated the agreement between previously used ABP-load 25%, 30%, 40%, 50% thresholds and the AHA/ESH thresholds for diagnosing AH, WCH, and MH. The American Academy of Pediatrics thresholds were used to diagnose office hypertension.

Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome.

Neonatal Marfan syndrome is a severe, early onset presentation of pathogenic variants in FBN1. Because of the significant cardiac involvement and early mortality, nearly all reported cases have been de novo, and the disorder has not been documented to be inherited from a symptomatic parent. Here, we present a female infant with neonatal Marfan syndrome who was born to a father with Marfan syndrome.

Are Active Video Games Effective at Eliciting Moderate-Intensity Physical Activity in Children, and Do They Enjoy Playing Them?

Background: Despite current physical activity (PA) guidelines, children spend an average of 1-3 hours/day playing video games. Some video games offer physically active components as part of gameplay. We sought to determine if these active video games (AVGs) can elicit at least moderate PA in children, identify game elements important for PA, and determine if they are fun to play.

Diagnosis of Pediatric Hypertension: European Society of Hypertension-Recommended 24-Hour vs. 24-Hour-Day-Night Ambulatory Blood Pressure Thresholds.

Background: The impact of diagnosing pediatric hypertension based on all three-24-hour, day and night ambulatory blood pressure (ABP) thresholds (combined ABP threshold) vs. conventionally used 24-hour ABP threshold is not known.

Methods: In this cross-sectional, retrospective study from a tertiary care outpatient clinic, we evaluated the diagnosis of hypertension based on the 24-hour European Society of Hypertension (ESH) and combined ESH ABP thresholds in untreated children with essential hypertension.

Comparative Analysis of American Heart Association and European Society of Hypertension Ambulatory Blood Pressure Thresholds for Diagnosing Hypertension in Children.

Introduction: The influence of using 24-hour ambulatory blood pressure (ABP) thresholds recommended by the American Heart Association (AHA) (24-hour mean ABP >95th percentile and ABP load >25%) or the European Society of Hypertension (ESH) (mean 24-hour ABP >95th percentile or >130/80 mm Hg if mean ABP 95th percentile exceeds 130/80 mm Hg) on the diagnosis of pediatric hypertension has been understudied.

Methods: In a cross-sectional, retrospective study of 159 children from a tertiary care outpatient clinic, we classified office blood pressure (OBP) as normotension or hypertension based on the OBP thresholds recommended by the American Academy of Pediatrics (AAP) and the fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents (herein referred to as the fourth report) by the National High Blood Pressure Educational Program Working Group on High Blood Pressure in Children and Adolescents separately. Thereafter, we evaluated the agreement between the ambulatory AHA and ESH thresholds for diagnosing normotension, white-coat hypertension (WCH), masked hypertension (MH), and hypertension based on the patient's ABP and OBP hypertension pattern.

Improving remote lifestyle intervention studies in children: Participant and caregiver feedback of the smart heart study.

Objectives: We sought to describe and analyze the quantitative and qualitative feedback obtained from participants and their caregivers of the Smart Heart study, a successful 12-month lifestyle intervention for children with overweight or obesity and congenital heart disease that provided remote lifestyle counseling, to improve future lifestyle interventions in children.

Methods: Thirty-six participants and caregivers were polled using a standard program evaluation questionnaire at the end of the intervention. Feedback was compiled into themes, and facilitators and barriers to program success were identified.

Arterial Hypertension and Unusual Ascending Aortic Dilatation in a Neonate With Acute Kidney Injury: Mechanistic Computer Modeling.

Background: Neonatal asphyxia caused kidney injury and severe hypertension in a newborn. An unusually dilatated ascending aorta developed. Dialysis and pharmacological treatment led to partial recovery of the ascending aortic diameters.

Return of genetic and genomic research findings: experience of a pediatric biorepository.

Background: Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants.

Methods: Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinically actionable research findings were reviewed by a Return of Research Results Committee (RRR) and returned to the physician or disclosed directly to the participant through a research genetic counselor.

An unusual case of pericardial effusion.

We report a case of a 13-year-old male with trisomy 21 in Southwestern Ontario, Canada, who presented with bilateral pneumonia, pericardial effusion, and peripheral oedema. The pericardial effusion did not respond to standard treatment options. Evaluation revealed severe dietary restriction, consistent with kwashiorkor.

Increased blood pressure is associated with increased carotid artery intima-media thickness in children with repaired coarctation of the aorta.

Objectives: The intima-media thickness of the common carotid artery (cIMT) is a good noninvasive surrogate marker for cardiovascular disease. Regular cIMT monitoring in children with congenital heart disease has great potential. We sought to determine which anthropomorphic and haemodynamic variables were significantly associated with the cIMT in paediatric patients with obesity and children with repaired coarctation of the aorta (CoA).

Lack of access to paediatric cardiology services in the public health system in four major urban centres in Perú.

For one-third of the Peruvian population living in large cities outside the capital city Lima, there is no access to paediatric cardiology services provided by the public health care system. Children with suspected CHD living in these areas are referred to the adult cardiologist working at the regional hospitals for care and treatment. This is a consequence of the universal health care system and the heavily skewed distribution of the health care workforce towards the capital city of Lima.

Non-invasive measurement of cardiac output in children with repaired coarctation of the aorta using electrical cardiometry compared to transthoracic Doppler echocardiography.

Objective: To evaluate the equivalence of the ICON electrical cardiometry (EC) haemodynamic monitor to measure cardiac output (CO) relative to transthoracic Doppler echocardiography (TTE) in paediatric patients with repaired coarctation of the aorta (CoA).

Approach: A group of n  =  28 CoA patients and n  =  27 matched controls were enrolled. EC and TTE were performed synchronously on each participant and CO measurements compared using linear regression and Bland-Altman analysis.

Remote Lifestyle Counseling Influences Cardiovascular Health Outcomes in Youth with Overweight or Obesity and Congenital Heart Disease.

Background: Children with overweight/obesity and congenital heart disease (CHD) are at increased cardiovascular risk. A lifestyle intervention may help reduce these risks. We sought to determine the feasibility of a smartphone-based lifestyle intervention to improve cardiovascular health outcomes in children with overweight/obesity and CHD.

The use of smartphones to influence lifestyle changes in overweight and obese youth with congenital heart disease: a single-arm study: Pilot and feasibility study protocol: Smart Heart Trial.

Background: Both obesity and congenital heart disease (CHD) are risk factors for the long-term cardiovascular health of children and adolescents. The addition of smart mobile technology to conventional lifestyle counseling for weight management offers great potential to appeal to technologically literate youth and can address a large geographical area with minimal burden to participants. This pilot study seeks to examine the influence of a 1-year lifestyle intervention on nutrition and physical activity-related health outcomes in overweight or obese children and adolescents with CHD.

Implementation of clinical research trials using web-based and mobile devices: challenges and solutions.

Background: With the increasing implementation of web-based, mobile health interventions in clinical trials, it is crucial for researchers to address the security and privacy concerns of patient information according to high ethical standards. The full process of meeting these standards is often made more complicated due to the use of internet-based technology and smartphones for treatment, telecommunication, and data collection; however, this process is not well-documented in the literature.

Results: The Smart Heart Trial is a single-arm feasibility study that is currently assessing the effects of a web-based, mobile lifestyle intervention for overweight and obese children and youth with congenital heart disease in Southwestern Ontario.

Indomethacin induced and prostaglandin relieved coarctation of the aorta in right aortic arch with left arterial duct: a case report.

We describe the case of an infant with DiGeorge syndrome born with a right aortic arch and left arterial duct. Despite the remote location of the right aortic arch from the left arterial duct, he developed coarctation of the aorta during treatment with indomethacin. This was relieved by prostaglandin treatment.

Does obesity affect the non-invasive measurement of cardiac output performed by electrical cardiometry in children and adolescents?

Electrical cardiometry (EC) is a non-invasive and inexpensive method for hemodynamic assessment and monitoring. However, its feasibility for widespread clinical use, especially for the obese population, has yet to be determined. In this study, we evaluated the agreement and reliability of EC compared to transthoracic Doppler echocardiography (TTE) in normal, overweight, and obese children and adolescents.