Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams-Oliver syndrome (AOS). The clinical presentation of individuals with damaging NOTCH1 variants is characterized by variable expressivity and incomplete penetrance; however, data on systematic phenotypic characterization are limited. We report the genotype and phenotype of a cohort of 33 individuals (20 females, 13 males; median age 23.

Fetal Cardiology Bioethics: An Innovative New Curriculum for Cardiology Trainees.

Decision-making in fetal cardiology is fraught with ethical issues yet education in bioethics for trainees is limited or nonexistent. In this innovation report, we describe the development of a fetal cardiology bioethics curriculum designed to address this gap. The curriculum was developed to supplement the core curriculum for cardiology fellows and fetal cardiology subspecialty trainees.

Coronary artery lesions are associated with adverse cardiac events in children undergoing supravalvular aortic stenosis repair.

Objectives: The aim of this study was to identify the prevalence and anatomic characteristics of coronary artery lesions and their associated postoperative risk in patients undergoing supravalvular aortic stenosis repair.

Methods: The association between structural risk factors, postoperative ST-segment changes, and major adverse cardiac events was explored using logistic regression and the Fisher's exact test.

Results: In 51 consecutive patients with supravalvular aortic stenosis treated between 2000 and 2017, a total of 48 coronary lesions were identified in 27 patients (53%).

E-Health: A Game Changer in Fetal and Neonatal Cardiology?

Technological advancements have greatly impacted the healthcare industry, including the integration of e-health in pediatric cardiology. The use of telemedicine, mobile health applications, and electronic health records have demonstrated a significant potential to improve patient outcomes, reduce healthcare costs, and enhance the quality of care. Telemedicine provides a useful tool for remote clinics, follow-up visits, and monitoring for infants with congenital heart disease, while mobile health applications enhance patient and parents' education, medication compliance, and in some instances, remote monitoring of vital signs.

The relationships between acetylcholine-induced chest pain, objective measures of coronary vascular function and symptom status.

Background: Acetylcholine-induced chest pain is routinely measured during the assessment of microvascular function.

Aims: The aim was to determine the relationships between acetylcholine-induced chest pain and both symptom burden and objective measures of vascular function.

Methods: In patients with angina but no obstructive coronary artery disease, invasive studies determined the presence or absence of chest pain during both acetylcholine and adenosine infusion.

Competency Standard Derivation for Point-of-Care Ultrasound Image Interpretation for Emergency Physicians.

Study Objective: Because number-based standards are increasingly controversial, the objective of this study was to derive a performance-based competency standard for the image interpretation task of point-of-care ultrasound (POCUS).

Methods: This was a prospective study. Operating on a clinically-relevant sample of POCUS images, we adapted the Ebel standard-setting method to derive a performance benchmark in 4 diverse pediatric POCUS applications: soft tissue, lung, cardiac and focused assessment with sonography in trauma (FAST).

Comparison of Pre- and Postnatally Diagnosed Coronary Artery Fistulae: Echocardiographic Features and Clinical Outcomes.

Background: Coronary artery fistulae (CAFs) are abnormal connections of a coronary artery to a cardiac chamber or vessel. There is a paucity of data regarding clinical outcomes, especially when detected prenatally.

Methods: This was a multicenter retrospective cohort study of all CAF cases from 2002 to 2016.

Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study.

Background: Congenitally corrected transposition of the great arteries (ccTGA) is a rare disease of unknown cause. We aimed to better understand familial recurrence patterns.

Methods: An international, multicentre, retrospective cohort study was conducted in 29 tertiary hospitals in 6 countries between 1990 and 2018, entailing investigation of 1043 unrelated ccTGA probands.

Prospective Assessment of Coronary Artery Flows Before and After Cardiopulmonary Bypass in Children With a Spectrum of Congenital Heart Disease.

Background: Normative data for the effect of cardiopulmonary bypass (CPB) on coronary artery Doppler velocities by transesophageal echocardiography in paediatric patients with congenital heart disease (CHD) are lacking. The objective of the study was to prospectively examine the effects of CPB on coronary artery flow patterns by transesophageal echocardiography before and after CPB in children with CHD.

Methods: All cases undergoing CHD surgery at the Hospital for Sick Children, Toronto, were eligible.

Concurrently Low Coronary Flow Reserve and Low Index of Microvascular Resistance Are Associated With Elevated Resting Coronary Flow in Patients With Chest Pain and Nonobstructive Coronary Arteries.

Background: Coronary microvascular function can be distinctly quantified using the coronary flow reserve (CFR) and index of microvascular resistance (IMR). Patients with low CFR can present with low or high IMR, although the prevalence and clinical characteristics of these patient groups remain unclear.

Methods: One hundred ninety-nine patients underwent coronary microvascular assessments using coronary thermodilution techniques.

Is late treatment with acetaminophen safe and effective in avoiding surgical ligation among extremely preterm neonates with persistent patent ductus arteriosus?

Objective: Evaluate the association of late treatment with acetaminophen vs. immediate surgical ligation with death or neurodevelopmental impairment (NDI) among extremely low gestational age neonates (ELGANs) with persistent patent ductus arteriosus (pPDA).

Study Design: Retrospective comparative epoch study of ELGANs with pPDA being considered for surgical ligation.

Cardiac point of care ultrasound in resource limited settings to manage children with congenital and acquired heart disease.

Background: In resource limited settings, children with cardiac disease present late, have poor outcomes and access to paediatric cardiology programmes is limited. Cardiac point of care ultrasound was introduced at several Médecins Sans Frontières sites to facilitate cardiopulmonary assessment. We describe the spectrum of disease, case management and outcomes of cases reviewed over the Telemedicine platform.

Characterization of the Human Coronary Microvascular Response to Multiple Hyperaemic Agents.

Background: It is unclear whether the coronary microvascular responses to multiple, mechanistically distinct hyperaemic agents exert similar dilatory responses or share common clinical predictors. This study therefore sought to characterize the index of microvascular resistance (IMR) response to multiple hyperaemic agents in the human coronary circulation.

Methods: Thermodilution-derived IMR was determined during intravenous adenosine, intracoronary acetylcholine, and intravenous dobutamine in patients with ischemic symptoms and nonobstructive coronary angiograms.

Heterozygous NOTCH1 deletion associated with variable congenital heart defects.

Pathogenic heterozygous variants in the NOTCH1 gene are known to be associated with both left and right-sided congenital cardiac anomalies with strikingly incomplete penetrance and variable phenotypic expressivity. De novo NOTCH1 whole gene deletion has been reported rarely in the literature and its association with cardiac defects is less well established. Here, we report four cases of NOTCH1 gene deletion from two families associated with a spectrum of congenital heart defects from bicuspid aortic valve to complex cardiac anomalies.

Intraoperative echocardiographic coronary artery imaging in congenital and acquired heart disease.

Transoesophageal and epicardial echocardiography are indispensible intraoperative imaging modalities to guide paediatric heart disease surgeries and influence surgical decision-making. A less well-described role of intraoperative imaging is its utility in evaluating coronary artery patency and flow. Focused two-dimensional, colour, and spectral Doppler imaging of the coronary arteries should be performed during surgeries involving coronary manipulation or re-implantation, or in cases where there is unexpected ventricular dysfunction or electrographic signs concerning for ischaemia.

Improving Prenatal Diagnosis of Coarctation of the Aorta.

Background: The purpose of the study was to evaluate the association between fetal echocardiographic measurements and the need for intervention (primary coarctation repair, staged coarctation repair, or catheter intervention) in prenatally diagnosed coarctation of the aorta.

Methods: A single-centre retrospective cohort study (2005-2015) of 107 fetuses diagnosed with suspected coarctation of the aorta in the setting of an apex-forming left ventricle and antegrade flow across the mitral and aortic valves.

Results: Median gestational age at diagnosis was 32 weeks (interquartile range, 23-35 weeks).

Late oral acetaminophen versus immediate surgical ligation in preterm infants with persistent large patent ductus arteriosus.

Objective: The study objective was to evaluate the association of oral acetaminophen therapy versus immediate surgical ligation with neonatal outcomes in infants with persistent patent ductus arteriosus.

Methods: We performed a retrospective cohort study of preterm infants born 28 weeks or less gestational age with persistent large patent ductus arteriosus being considered for surgical ligation after unsuccessful medical therapy. Infants in epoch 1 (July 2009 to June 2012) were immediately referred for ligation, and infants in epoch 2 (July 2012 to June 2015) were treated with oral acetaminophen and referred for ligation in the absence of improvement.

Coronary artery Doppler patterns are associated with clinical outcomes post-arterial switch operation for transposition of the great arteries.

Aims: Transposition of the great arteries (TGA) is generally repaired using the arterial switch operation (ASO) involving coronary transfer. The objective of this prospective study was to determine whether specific coronary Doppler patterns intra-operatively predicted adverse early myocardial events.

Methods And Results: Patients < 3 months old with TGA undergoing the ASO were eligible.

Does prenatal diagnosis of hypoplastic left heart syndrome make a difference? - A systematic review.

Objective: Hypoplastic left heart syndrome is frequently diagnosed prenatally with variable benefit. We performed a systematic review to evaluate the impact of fetal diagnosis; the primary objective was to evaluate impact on mortality.

Methods: Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed.

Sleep Disruption is Associated with Increased Ventricular Ectopy and Cardiac Arrest in Hospitalized Adults.

Study Objectives: To determine whether sleep disruption increases ventricular ectopy and the risk of cardiac arrest in hospitalized patients.

Methods: Hospital emergency codes (HEC) trigger multiple hospital-wide overhead announcements. In 2014 an electronic "code white" program was instituted to protect staff from violent patients.

Comparison of Immune Profiles in Fetal Hearts with Idiopathic Dilated Cardiomyopathy, Maternal Autoimmune-Associated Dilated Cardiomyopathy and the Normal Fetus.

The etiology of idiopathic dilated cardiomyopathy (iDCM) remains unknown. Immune therapies have improved outcome in fetuses with DCM born to mothers with autoimmune disease (aDCM). The purpose of this retrospective study was to compare the myocardial B and T cell profiles in fetuses and neonates with idiopathic DCM (iDCM) versus autoimmune-mediated DCM (aDCM) and to describe the normal cell maturation within the human fetal myocardium.