Hypertrophic cardiomyopathy in Duchenne muscular dystrophy: a case series.

Duchenne muscular dystrophy is characterised by fibrofatty replacement of muscle, resulting in dilated cardiomyopathy. Hypertrophic cardiomyopathy affects 1:200-1:500 people and is characterised by asymmetric ventricular septal hypertrophy. To date, there have been two separately reported cases describing the combined pathology of these disorders.

Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy.

Background: cardiomyopathy is a distinct subset of arrhythmogenic cardiomyopathy, reported primarily in adults, that has predominantly left ventricular involvement and features of myocarditis. Clinical characteristics, risk stratification, and management of pediatric patients with variants are not well known. We sought to identify phenotypic features and prognosis of pediatric patients with pathogenic or likely pathogenic variants.

ACTION-ARC Pediatric and Adult Congenital Heart Disease Ventricular Assist Device Adverse Event Definitions-2023.

Adverse events (AEs) experienced by children and adults with congenital heart disease (CHD) on ventricular assist devices (VADs) are sometimes unique to these populations. The Advanced Cardiac Therapies Improving Outcomes Network (ACTION) and the Academic Research Consortium (ARC) aimed to harmonize definitions of pediatric and CHD AEs for use in clinical trials, registries, and regulatory evaluation. Data from the ACTION registry and adjudication committee were used to adapt general mechanical circulatory support ARC definitions.

Impact of inflammation and steroids on anti-coagulation in children supported on a ventricular assist device.

Critically ill pediatric patients supported on ventricular assist devices (VADs) are increasingly being anticoagulated on bivalirudin, but with difficulty monitoring anticoagulation. Activated partial thromboplastin time (aPTT) has recently been shown to poorly correlate with bivalirudin plasma concentrations, while dTT had excellent correlation. However, aPTT is the more common monitoring test and dTT testing is rarely used.

Wireless Pulmonary Artery Pressure Monitor Implantation in a Patient with Duchenne Muscular Dystrophy.

Assessing heart failure progression in patients with Duchenne Muscular Dystrophy (DMD) is challenging given the multi-system nature of disease. Herein we describe the first case use of an implantable pulmonary artery pressure monitor and describe the potential clinical utility of this approach in patients with DMD.

Cardiac atrial pathology in Duchenne muscular dystrophy.

Introduction/aims: Duchenne muscular dystrophy (DMD) is characterized by fibrofatty replacement of muscle. This has been documented in the ventricular myocardium of DMD patients, but there is limited description of atrial involvement. The purpose of this study is to examine the arrhythmia and ectopy burden in patients with DMD and non-DMD dilated cardiomyopathy (DCM) and to characterize the cardiac histopathologic changes in DMD patients across the disease spectrum.

Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.

Background: Duchenne muscular dystrophy (DMD) and related dystrophinopathies are neuromuscular conditions with great unmet medical needs that require the development of effective medical treatments.

Objective: To aid sponsors in clinical development of drugs and therapeutic biological products for treating DMD across the disease spectrum by integrating advancements, patient registries, natural history studies, and more into a comprehensive guidance.

Methods: This guidance emerged from collaboration between the FDA, the Duchenne community, and industry stakeholders.

Left Atrial Phasic Function via Cardiac Magnetic Resonance Imaging in Patients with Duchenne Muscular Dystrophy.

Cardiac dysfunction is a leading cause of morbidity and mortality in Duchenne muscular dystrophy (DMD). Left atrial (LA) function is a poorly understood concept in this patient population, and research suggests underlying structural changes that could affect atrial function. Cardiac magnetic resonance (CMR) imaging may provide an important non-invasive approach to evaluating LA function.

School age and adolescent heart failure following the Norwood procedure.

Background: Heart failure results in significant morbidity and mortality for young children with hypoplastic left heart syndrome (HLHS) following the Norwood procedure. The trajectory in later childhood is not well described.

Methods: We studied the outcome into adolescence of participants enrolled in the Single Ventricle Reconstruction trial who underwent the Fontan procedure or survived to 6 years without having undergone Fontan procedure.

Modifiable risk factor reduction for pediatric ventricular assist devices and the influence of persistent modifiable risk factors at transplant.

Objectives: Ventricular assist devices (VADs) are associated with a mortality benefit in children. Database-driven analyses have associated VADs with reduction of modifiable risk factors (MRFs), but validation with institutional data is required. The authors studied MRF reduction on VAD and the influence of persistent MRFs on survival after heart transplant.

In the era of outpatient ventricular assist devices, is it time to reconsider the practice of bridging older children to transplant on outpatient inotropes?

Objective: Ventricular assist devices (VADs) and inotropes are feasible modalities to bridge children to heart transplant (HT) in outpatient settings. However, it is unclear which modality yields superior clinical status at HT and posttransplant survival.

Methods: The United Network for Organ Sharing was used to identify patients aged 18 years or younger, weighing >25 kg, from 2012 to 2022 who were outpatients at HT (n = 835).

Single Center Experience With Durable Continuous Flow Single Ventricle Assist Device: A Viable Option in Fontan Circulatory Failure.

Ventricular assist devices are increasingly used for patients with single ventricle physiology. We describe the use of durable, continuous flow, single ventricular assist device (SVAD) therapy in Fontan circulatory failure patients. Retrospective, single-center review of patients with Fontan circulation implanted with a SVAD between 2017 and 2022.

Risk of Sudden Death in Patients With RASopathy Hypertrophic Cardiomyopathy.

Background: Genetic defects in the RAS/mitogen-activated protein kinase pathway are an important cause of hypertrophic cardiomyopathy (RAS-HCM). Unlike primary HCM (P-HCM), the risk of sudden cardiac death (SCD) and long-term survival in RAS-HCM are poorly understood.

Objectives: The study's objective was to compare transplant-free survival, incidence of SCD, and implantable cardioverter-defibrillator (ICD) use between RAS-HCM and P-HCM patients.

Racial disparity exists in the utilization and post-transplant survival benefit of ventricular assist device support in children.

Purpose: Children of minority race and ethnicity experience inferior outcomes postheart transplantation (HTx). Studies have associated ventricular assist device (VAD) bridge-to-transplant (BTT) with similar-to-superior post-transplant-survival (PTS) compared to no mechanical circulatory support. It is unclear whether racial and ethnic discrepancies exist in VAD utilization and outcomes.

The Prevalence and Association of Exercise Test Abnormalities With Sudden Cardiac Death and Transplant-Free Survival in Childhood Hypertrophic Cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) can be associated with an abnormal exercise response. In adults with HCM, abnormal results on exercise stress testing are predictive of heart failure outcomes. Our goal was to determine whether an abnormal exercise response is associated with adverse outcomes in pediatric patients with HCM.

SynCardia Temporary Total Artificial Heart: Single-Center Experience at a Children's Hospital.

The SynCardia temporary total artificial heart (TAH-t) is a pneumatically driven pulsatile device that replaces a patient's ventricles and all four valves. It is now available in two sizes and can be used in patients with sufficient chest size as a bridge to transplant or destination therapy. We describe our experience at a children's hospital with the TAH-t.

Initial multicenter experience with ventricular assist devices in children and young adults with muscular dystrophy: An ACTION registry analysis.

Purpose: Cardiac disease results in significant morbidity and mortality in patients with muscular dystrophy (MD). Single centers have reported their ventricular assist device (VAD) experience in specific MDs and in limited numbers. This study sought to describe the outcomes associated with VAD therapy in an unselected population across multiple centers.

Racial and socioeconomic disparities in pediatric heart transplant outcomes in the era of anti-thymocyte globulin induction.

Background: Black race is associated with worse outcomes across solid organ transplantation. Augmenting immunosuppression through antithymocyte globulin (ATG) induction may mitigate organ rejection and graft loss. We investigated whether racial and socioeconomic outcome disparities persist in children receiving ATG induction.

Comparing donor and recipient total cardiac volume predicts risk of short-term adverse outcomes following heart transplantation.

Introduction: In pediatric heart transplantation, donor: recipient weight ratio (DRWR) has long been the sole metric for size matching. Total cardiac volume (TCV)-based size matching has emerged as a novel method to precisely identify an upper limit of donor organ size of a heart transplant recipient while minimizing the risk of complications from oversizing. The clinical adoption of donor: recipient volume ratio (DRVR) to prevent short-term adverse outcomes of oversizing is unknown.