Impact of Heart Transplant Allocation Changes on Waitlist Mortality and Clinical Practice in Pediatric and Adult Patients With Congenital Heart Disease and Cardiomyopathy.

Background: The United Network of Organ Sharing made changes to the priority for allocation of hearts for transplantation (HT) in 2016 for pediatric patients and 2018 for adult patients. Although recent work has evaluated the impact of the revised allocation systems on mechanical circulatory support practices and waitlist outcomes, there are limited data that focus more specifically on the impact of the allocation changes on patients with congenital heart disease (CHD) or cardiomyopathy and how these relationships might differ in pediatric and adult patients.

Methods: The United Network of Organ Sharing database was queried for pediatric (<18 years of age) and adult (18-50 years of age) patients with a CHD or cardiomyopathy diagnosis listed for HT.

NAD+ precursors prolong survival and improve cardiac phenotypes in a mouse model of Friedreich's Ataxia.

Friedreich's ataxia (FRDA) is a progressive disorder caused by insufficient expression of frataxin, which plays a critical role in assembly of iron-sulfur centers in mitochondria. Individuals are cognitively normal but display a loss of motor coordination and cardiac abnormalities. Many ultimately develop heart failure.

Prolonged Inotrope Use After Surgery for Congenital Heart Disease: A Common Occurrence with a High Burden of Mortality.

Outcomes in patients requiring prolonged inotropes (PI) following surgery for congenital heart disease (CHD) have not been well studied. We aimed to describe the burden of PI use in the immediate postoperative period after CHD surgery and identify risk factors for in-hospital mortality. We conducted a retrospective cohort study using the Pediatric Health Information System® (PHIS) database.

Insulin sensitivity and insulin secretion in adults with Friedreich's Ataxia: the role of skeletal muscle.

Introduction: Friedreich's Ataxia (FRDA) is a multi-system disorder caused by frataxin deficiency. FRDA-related diabetes mellitus (DM) is common. Frataxin supports skeletal muscle mitochondrial oxidative phosphorylation (OXPHOS) capacity, a mediator of insulin sensitivity.

Quality of Life and Exercise Capacity in Early Stage and Subclinical Hypertrophic Cardiomyopathy: A Secondary Analysis of the VANISH Trial.

Background: The health-related quality of life (HRQOL) and cardiopulmonary exercise testing (CPET) performance of individuals with subclinical and early stage hypertrophic cardiomyopathy (HCM) have not been systematically studied. Improved understanding will inform the natural history of HCM and factors influencing well-being.

Methods: VANISH trial (Valsartan for Attenuating Disease Evolution in Early Sarcomeric HCM) participants with early stage sarcomeric HCM (primary analysis cohort) and subclinical HCM (sarcomere variant without left ventricular hypertrophy comprising the exploratory cohort) who completed baseline and year 2 HRQOL assessment via the pediatric quality of life inventory and CPET were studied.

Mechanical Circulatory Support in Pediatric Myocarditis: Support Strategies and Outcomes in a Nationally Representative Cohort.

Background: Myocarditis is a common cause of pediatric heart failure which may require mechanical circulatory support (MCS). The purpose of this study is to describe MCS strategies used in a nationwide cohort of pediatric patients with myocarditis, identify trends over time, and compare outcomes between MCS strategies.

Methods: This study utilized the Kids' Inpatient Database (KID), a national sample of administrative discharge data.

Subspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States.

Background And Objectives: Standards of care exist to optimize outcomes in Duchenne and Becker muscular dystrophy (DBMD), caused by alterations in the DMD gene; however, there are limited data regarding health care access in these patients. This study aims to characterize outpatient subspecialty care utilization in pediatric patients with DBMD.

Methods: This retrospective cohort study used administrative claims data from IBM MarketScan Medicaid and Commercial Claims and Encounters Research Databases (2013-2018).

Hybrid stage 1 palliation with simultaneous off-pump ventricular assist device placement in neonates with high-risk single ventricle anatomy: Initial experience.

Background: Infants with single ventricle heart disease and severe atrioventricular valve regurgitation have poor outcomes following conventional staged palliation. As such, ventricular assist device (VAD) placement along with hybrid stage 1 palliation has been proposed as a bridge to heart transplant. We present a novel surgical technique for VAD implantation concurrent with hybrid stage 1 that avoids cardiopulmonary bypass.

Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement.

Background: The left ventricular (LV) changes which occur in Friedreich ataxia (FRDA) are incompletely understood.

Methods: Cardiac magnetic resonance (CMR) imaging was performed using a 1.5T scanner in subjects with FRDA who are homozygous for an expansion of an intron 1 GAA repeat in the FXN gene.

Characterization of clinical serum cardiac biomarker levels in individuals with Friedreich ataxia.

Friedreich ataxia is a progressive autosomal recessive neurodegenerative disorder characterized by ataxia, dyscoordination, and cardiomyopathy. A subset of patients with Friedreich ataxia have elevated levels of serum cardiac troponin I, but associations with disease outcomes and features of cardiomyopathy remain unclear. In this study, we characterized clinically obtained serum cardiac biomarker levels including troponin I, troponin T, and B-type natriuretic peptide in subjects with Friedreich ataxia and evaluated their association with markers of disease.

Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia.

Introduction/aims: Traditional exercise is often difficult for individuals with Friedreich ataxia (FRDA), and evidence is limited regarding how to measure exercise performance in this population. We evaluated the feasibility, reliability, and natural history of adaptive cardiopulmonary exercise test (CPET) performance in children and adults with FRDA.

Methods: Participants underwent CPET on either an arm cycle ergometer (ACE) or recumbent leg cycle ergometer (RLCE) at up to four visits (baseline, 2 weeks, 4 weeks, and 1 year).

Programmatic Palliative Care Consultations in Pediatric Heart Transplant Evaluations.

Guidelines advocate for integrating palliative care into the management of heart failure (HF) and of children with life-limiting disease. The potential impact of palliative care integration into pediatric HF on patient-centered outcomes is poorly understood. The present study sought to assess the association of programmatic implementation of palliative care into the heart transplant evaluation process with hospital-free days (HFD) and end of life (EOL) treatment choices.

Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia.

We examined the clinical features of Friedreich ataxia (FRDA) patients who present first with cardiac disease in order to understand the earliest features of the diagnostic journey in FRDA. We identified a group of subjects in the FACOMS natural history study whose first identified clinical feature was cardiac. Only 0.

Multicenter Study of Survival Benefit of Cardiac Resynchronization Therapy in Pediatric and Congenital Heart Disease.

Background: Evidence for the efficacy of cardiac resynchronization therapy (CRT) in pediatric and congenital heart disease (CHD) has been limited to surrogate outcomes.

Objectives: This study aimed to assess the impact of CRT upon the risk of transplantation or death in a retrospective, high-risk, controlled cohort at 5 quaternary referral centers.

Methods: Both CRT patients and control patients were <21 years of age or had CHD; had systemic ventricular ejection fraction <45%; symptomatic heart failure; and significant electrical dyssynchrony (QRS duration z score >3 or single-site ventricular pacing >40%) at enrollment.

Research Gaps in Pediatric Heart Failure: Defining the Gaps and Then Closing Them Over the Next Decade.

Given the numerous opportunities and the wide knowledge gaps in pediatric heart failure, an international group of pediatric heart failure experts with diverse backgrounds were invited and tasked with identifying research gaps in each pediatric heart failure domain that scientists and funding agencies need to focus on over the next decade.

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.

Objective: To assess the diagnostic yield of exome sequencing (ES) in pediatric cardiomyopathy.

Study Design: A single-institution, retrospective chart review of 91 patients with pediatric cardiomyopathy was performed. While pediatric cardiomyopathy is often genetic in nature, no genetic test is recommended as standard of care.

Hypertension: An Important But Reversible Cause of Systolic Dysfunction in a Cohort of Pediatric Patients.

Cardiac dysfunction due to hypertension (CDHTN) in pediatrics is not well described. We aimed to describe the presentation and outcomes of pediatric CDHTN and identify clinical features associated with resolution of dysfunction. A single-center retrospective cohort study of patients ≤ 21 years with CDHTN from January 2005-September 2020 was performed.

Three decades of collaboration through the Pediatric Heart Transplant Society Registry: A journey through registry data with a highlight on children with single ventricle anatomy.

Background: The Pediatric Heart Transplant Society (PHTS) Registry was founded 30 years ago as a collaborative effort among like-minded providers of this novel life-saving technique for children with end-stage heart failure. In the intervening decades, the data from the Registry have provided invaluable knowledge to the field of pediatric heart transplantation. This report of the PHTS Registry provides a comprehensive look at the data, highlighting both the longevity of the registry and one unique aspect of the PHTS registry, allowing for exploration into children with single ventricle anatomy.

Deep Learning Algorithm Detects Presence of Disorganization of Retinal Inner Layers (DRIL)-An Early Imaging Biomarker in Diabetic Retinopathy.

Purpose: To develop and train a deep learning-based algorithm for detecting disorganization of retinal inner layers (DRIL) on optical coherence tomography (OCT) to screen a cohort of patients with diabetic retinopathy (DR).

Methods: In this cross-sectional study, subjects over age 18, with ICD-9/10 diagnoses of type 2 diabetes with and without retinopathy and Cirrus HD-OCT imaging performed between January 2009 to September 2019 were included in this study. After inclusion and exclusion criteria were applied, a final total of 664 patients (5992 B-scans from 1201 eyes) were included for analysis.

Temporal trends in primary payers in pediatric heart transplant and association with long-term survival.

Background: Pediatric heart transplantation (HT) is resource intensive. In adults, there has been an increase in the proportion of HTs funded by public insurance, with post-HT outcomes inferior to those funded by private sources. Trends in the funding of pediatric HT and outcomes in children have not been described.

Word imageability is associated with expressive vocabulary in children with autism spectrum disorder.

Background & Aims: Throughout typical development, children prioritize different perceptual, social, and linguistic cues to learn words. The earliest acquired words are often those that are perceptually salient and highly imageable. Imageability, the ease in which a word evokes a mental image, is a strong predictor for word age of acquisition in typically developing (TD) children, independent of other lexicosemantic features such as word frequency.