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.

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.

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.

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.

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.

Obesity and loss of ambulation are associated with lower extremity oedema in Duchenne muscular dystrophy.

Patients with Duchenne muscular dystrophy have multiple risk factors for lower extremity oedema. This study sought to define the frequency and predictors of oedema. Patients aged 15 years and older were screened by patient questionnaire, and the presence of oedema was confirmed by subsequent physical exam.

Abdominal CT and MRI Findings of Portal Hypertension in Children and Adults with Fontan Circulation.

Background Portal hypertension in the Fontan circulation is a function of elevated systemic venous pressure and liver fibrosis. Purpose To quantify the prevalence of radiologic evidence of portal hypertension and elevated VAST score (one point each for varices, ascites, splenomegaly, and thrombocytopenia) of 2 or greater in children and adults with Fontan circulation and to determine the association with hemodynamics and adverse outcomes. Materials and Methods This was a retrospective study of individuals with Fontan circulation who underwent abdominal MRI or CT for focal liver lesion surveillance between January 2012 and December 2019.

Decreased Risk of Strokes in Children with Ventricular Assist Devices Within ACTION.

We sought to characterize strokes in children with ventricular assist devices. Of 407 patients in the ACTION registry (4/1/18-5/3/2021), 45 (11%) experienced 52 strokes (45 ischemic and 7 hemorrhagic). Median time to stroke was 23.

Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy.

Abnormal dystrophin production due to mutations in the dystrophin gene causes Duchenne Muscular Dystrophy (DMD). Cases demonstrate considerable genetic and disease progression variability. It is unclear if specific gene mutations are prognostic of outcomes in this population.

Chronic Ventricular Assist Device Support in Adult Congenital Heart Disease Patients: A Children's Hospital Perspective.

With improvement in early surgical outcomes in patients with complex congenital heart disease, most patients are now expected to survive to adulthood. As adult congenital heart disease (ACHD) patients age, they are at risk of heart failure, which has become the leading cause of mortality in ACHD. Some who develop advanced heart failure may not be candidates for transplant, and chronic ventricular assist device (VAD) therapy may be the only means of survival.

Ventricular Assist Device Therapy in the Fontan Circulation.

The number of Fontan patients with circulatory failure and systolic dysfunction is growing rapidly. The last decade has demonstrated that ventricular assist device (VAD) is an effective therapy in properly selected patients. Herein, we discuss the current approach to patient selection, implantation, and patient management.

Cardiac medication management in Duchenne muscular dystrophy.

There have been significant improvements in the skeletal muscle and respiratory care for patients with Duchenne muscular dystrophy (DMD) over the last two decades. This has resulted in longer expected survival as many patients will live into their 20s and 30s. This timeline has resulted in a greater proportion of patients experiencing heart failure and cardiac-related mortality.

Ventricular Assist Device Therapy and Fontan: A Story of Supply and Demand.

The last 10 years have seen an increase in the number of Fontan patients with heart failure. There has been a coincident rapid evolution in the field of pediatric and congenital heart disease ventricular assist device therapy. Herein, we describe the existing body of literature regarding the use of ventricular assist device therapy in the Fontan circulation as well as the current approach to clinical decision-making and device implantation within the field.

The total artificial heart in pediatrics: outcomes in an evolving field.

Background: The use of the SynCardia temporary total artificial heart (TAH-t) in adults has increased with time. The development of the smaller, 50 cc TAH-t has expanded the potential applications of the device in children. We sought to describe the evolving use of the TAH-t over time and describe outcomes in the current era.

The Creation of a Pediatric Health Care Learning Network: The ACTION Quality Improvement Collaborative.

Improving the outcomes of pediatric patients with congenital heart disease with end-stage heart failure depends on the collaboration of all stakeholders; this includes providers, patients and families, and industry representatives. Because of the rarity of this condition and the heterogeneity of heart failure etiologies that occur at pediatric centers, learnings must be shared between institutions and all disciplines to move the field forward. To foster collaboration, excel discovery, and bring data to the bedside, a new, collaborative quality improvement science network-ACTION (Advanced Cardiac Therapies Improving Outcomes Network)-was developed to meet the needs of the field.

Implantable Cardioverter Defibrillator Use in Males with Duchenne Muscular Dystrophy and Severe Left Ventricular Dysfunction.

Duchenne muscular dystrophy (DMD) is characterized by myocardial fibrosis and left ventricular (LV) dysfunction. Implantable cardioverter defibrillator (ICD) use has not been characterized in this population but is considered for symptomatic patients with severe LV dysfunction (SLVD) receiving guideline-directed medical therapy (GDMT). We evaluated ICD utilization and efficacy in patients with DMD.