Neonatal dilated cardiomyopathy and cardiospondylocarpofacial syndrome linked to a novel MAP3K7 gene mutation.

Cardiospondylocarpofacial syndrome (CSCF) is a rare congenital disorder characterized by growth impairment, polyvalvular heart diseases, and skeletal anomalies caused by a mutation in the mitogen-activated protein three kinase seven (MAP3K7) gene. It encodes transforming growth factor-β activated kinase1 (TAK1), a member of the mitogen-activated protein kinase (MAPK) family, and is responsible for abnormal skeletal and cardiac morphogenesis. We report a case of CSCF syndrome with a novel variant of the MAP3K7 gene c.

Navigating women with congenital heart disease during pregnancy: Management strategies and future directions.

Women with adult congenital heart disease (CHD) face unique challenges during pregnancy, as gestational cardiovascular (CV) and hemodynamic changes can exacerbate underlying cardiac conditions. While these adaptations are well tolerated in women with structurally and functionally normal hearts, they pose significant risks for those with adult CHD (ACHD), whether repaired, palliated, or with residual defects. Maternal CHD is associated with an increased risk of adverse CV events, including stroke, heart failure, arrhythmias, and thromboembolic complications during pregnancy and the peripartum period.

Impact of the angiotensin receptor-neprilysin inhibitor on chronic heart failure due to adult congenital heart disease: A systematic review and meta-analysis.

Background: Heart failure (HF) is a significant complication in adults with congenital heart disease (ACHD), often requiring advanced therapeutic strategies. Angiotensin receptor-neprilysin inhibitors (ARNIs) have emerged as a promising alternative to angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor blockers (ARBs) in HF management. However, their safety and efficacy in ACHD-related HF remain unclear.

Mechanism and Treatment of Right Ventricular Failure Due to Pulmonary Hypertension in Children.

Pulmonary hypertension (PH) is a progressive disorder characterized by obstructive changes in the pulmonary vasculature, leading to increased pulmonary vascular resistance (PVR), right ventricular (RV) strain, and eventual RV failure (RVF). Despite advancements in medical therapy, PH remains associated with significant morbidity and mortality, particularly in children. RVF is a clinical syndrome resulting from complex structural and functional remodeling of the right heart, leading to inadequate pulmonary circulation, reduced cardiac output, and elevated venous pressure.

Contemporary treatment of right ventricular failure.

Right ventricular failure (RVF) is a clinical syndrome resulting from structural and functional changes in the right ventricle (RV), leading to inadequate blood flow to the pulmonary circulation and elevated systemic venous pressures. Factors modulating RV function include afterload, preload, contractility, and interventricular dependency. The pathophysiology of RVF involves complex interactions, such as maladaptive hypertrophy, metabolic reprogramming, inflammation, fibrosis, apoptosis, and endothelial dysfunction.

Novel Therapies for Right Ventricular Failure.

Purpose Of Review: Traditionally viewed as a passive player in circulation, the right ventricle (RV) has become a pivotal force in hemodynamics. RV failure (RVF) is a recognized complication of primary cardiac and pulmonary vascular disorders and is associated with a poor prognosis. Unlike treatments for left ventricular failure (LVF), strategies such as adrenoceptor signaling inhibition and renin-angiotensin system modulation have shown limited success in RVF.

Unlocking the Potential: Angiotensin Receptor Neprilysin and Sodium Glucose Co-Transporter 2 Inhibitors for Right Ventricle Dysfunction in Heart Failure.

This review article examines the mechanism of action of Angiotensin Receptor-Neprilysin Inhibitors (ARNIs) and Sodium-Glucose Co-Transporter 2 Inhibitors (SGLT2is) in managing chronic right ventricular (RV) dysfunction. Despite advancements in heart failure (HF) treatment, RV dysfunction remains a significant contributor to morbidity and mortality. This article explores the The article explores the impact of ARNIs and SGLT2is on RV function based on clinical and preclinical evidence, and the potential benefits of combined therapy.

A Review of Contemporary and Future Pharmacotherapy for Chronic Heart Failure in Children.

This review delves into the most recent therapeutic approaches for pediatric chronic heart failure (HF) as proposed by the International Society for Heart and Lung Transplantation (ISHLT), which are not yet publicly available. The guideline proposes an exhaustive overview of the evolving pharmacological strategies that are transforming the management of HF in the pediatric population. The ISHLT guidelines recognize the scarcity of randomized clinical trials in children, leading to a predominance of consensus-based recommendations, designated as Level C evidence.

Cement-based solidification of nuclear waste: Mechanisms, formulations and regulatory considerations.

This review paper provides a comprehensive analysis of cement-based solidification and immobilisation of nuclear waste. It covers various aspects including mechanisms, formulations, testing and regulatory considerations. The paper begins by emphasizing the importance of nuclear waste management and the associated challenges.

Effortless Extraction of Structural and Orientational Information from C-H Dipolar Couplings for Thiophene Mesogens.

Five molecular mesogens containing phenyl rings and thiophene are subjected to a detailed C NMR investigation. The first mesogen contains only phenyl rings, while the other four have thiophene with substitution at position 2 or 3. Two of these also have a spacer inserted between the thiophene and the rest of the core unit.

Posterior reversible encephalopathy syndrome in a pediatric heart transplant recipient with coarctation of aorta.

Posterior reversible encephalopathy syndrome (PRES) is a clinical-radiographic syndrome reported in children with hypertension due to renal diseases, immunosuppression after solid organ transplant, cytotoxic agents for chemotherapy, and many others rare instances. We described PRES in a 6-year-old child with hypertension secondary to an incidental postoperative coarctation of the aorta after heart transplantation (HT). Her blood pressure was well controlled with amlodipine during the outpatient visits and home monitoring of blood pressure, but she had hypertension when presented with neurological symptoms.

A Systematic Approach for the Interpretation of Cardiopulmonary Exercise Testing in Children with Focus on Cardiovascular Diseases.

Cardiopulmonary exercise testing (CPET) is the clinical standard for children with congenital heart disease (CHD), heart failure (HF) being assessed for transplantation candidacy, and subjects with unexplained dyspnea on exertion. Heart, lung, skeletal muscle, peripheral vasculature, and cellular metabolism impairment frequently lead to circulatory, ventilatory, and gas exchange abnormalities during exercise. An integrated analysis of the multi-system response to exercise can be beneficial for differential diagnosis of exercise intolerance.

Diagnosis and Management of Cancer Treatment-Related Cardiac Dysfunction and Heart Failure in Children.

It is disheartening for parents to discover that their children have long-term cardiac dysfunction after being cured of life-threatening childhood cancers. As the number of childhood cancer survivors increases, early and late oncology-therapy-related cardiovascular complications continues to rise. It is essential to understand that cardiotoxicity in childhood cancer survivors is persistent and progressive.

Compound Heterozygous Missense Variants in Genes Associated with Severe Forms of Dilated Cardiomyopathy: A Case Report and Literature Review.

Whole exome sequencing has identified an infant girl with fulminant dilated cardiomyopathy (DCM), leading to severe acute heart failure associated with ribosomal protein large 3-like () gene pathologic variants. Other genetic tests for mitochondrial disorders by sequence analysis and deletion testing of the mitochondrial genome were negative. Secondary causes for DCM due to metabolic and infectious etiologies were ruled out.

Successful Pulmonary Endarterectomy after Acute Pulmonary Embolism and Reversal of Acute Cor Pulmonale in an 11-Year-Old Boy with Nephrotic Syndrome.

Patients with nephrotic syndrome (NS) are at an increased risk for thromboembolic events, such as deep venous and arterial thrombosis and pulmonary embolism (PE). In general, PE in children differs from adults in incidence, predisposition, pathophysiology, presenting symptoms, and management strategies. There is a lack of treatment guidelines for PE in children, and the management strategies are mostly extrapolated from adult data.

Impact of induction therapy on cytomegalovirus infection and post-transplant outcomes in pediatric heart transplant recipients receiving routine antiviral prophylaxis.

Objectives: Induction therapy has been increasingly used in pediatric heart transplantation. This study evaluated the impact of anti-thymocyte globulin (ATG) versus basiliximab as induction therapy on post-transplant cytomegalovirus (CMV) infection, rejection at 1 year, coronary allograft vasculopathy (CAV), and mortality in pediatric heart transplant recipients receiving antiviral prophylaxis.

Results: Of the 96 patients (age < 18 years) analyzed, 46 (47.

MIS-C related to SARS-CoV-2 infection: a narrative review of presentation, differential diagnosis, and management.

Multisystem Inflammatory Syndrome in Children (MIS-C), a rare condition, has been reported approximately 2-4 weeks after the onset of COVID-19 in children and adolescents, causing inflammation in multiple systems, including cardiovascular and respiratory, digestive, and central nervous systems. This condition is also known as hyperinflammatory shock, Kawasaki-like disease, and Pediatric Inflammatory Multisystem Syndrome (PIMS). The signs and symptoms include but are not limited to fever, rash, peripheral edema, gastrointestinal symptoms, conjunctivitis, and shock.

Parametric Mapping Cardiac Magnetic Resonance Imaging for the Diagnosis of Myocarditis in Children in the Era of COVID-19 and MIS-C.

Myocarditis comprises many clinical presentations ranging from asymptomatic to sudden cardiac death. The history, physical examination, cardiac biomarkers, inflammatory markers, and electrocardiogram are usually helpful in the initial assessment of suspected acute myocarditis. Echocardiography is the primary tool to detect ventricular wall motion abnormalities, pericardial effusion, valvular regurgitation, and impaired function.

Racial and Ethnic Disparity in Multisystem Inflammatory Syndrome in Children Associated With SARS-CoV-2 in Mississippi, USA.

We aimed to study the disparity in the clinical profile and outcomes of hospitalized Multisystem Inflammatory Syndrome in Children (MIS-C) patients at our center. The second goal was to examine the temporal association with preceding SARS-CoV-2 infection by race/ethnicity in our community in Mississippi. We found the racial disparity in the prevalence of MIS-C exceeded its temporal association with SARS-CoV-2 infections.

Therapeutic Approaches in Heart Failure with Preserved Ejection Fraction (HFpEF) in Children: Present and Future.

For a long time, pediatric heart failure (HF) with preserved systolic function (HFpEF) has been noted in patients with cardiomyopathies and congenital heart disease. HFpEF is infrequently reported in children and instead of using the  HFpEF terminology the HF symptoms are attributed to diastolic dysfunction. Identifying HFpEF in children is challenging because of heterogeneous etiologies and unknown pathophysiological mechanisms.

Trends in Contemporary Use of Ventricular Assist Devices in Children Awaiting Heart Transplantation and Their Outcomes by Race/Ethnicity.

This retrospective study included children aged ≤18 years who had durable ventricular assist devices (VADs) as a bridge to transplantation from the United Network Organ Sharing (UNOS) database between 2011 and 2020. We evaluated 90 day waitlist mortality and 1 year posttransplant mortality after VAD implantation in children stratified by race/ethnicity: Black, White, and Others. The VAD was used in a higher proportion of Black children listed for heart transplantation (HT) (26%) versus Other (25%) versus White (22%); p < 0.

Further Evidence of Autosomal Recessive Inheritance of Pathogenic Variants with Rapidly Progressive Neonatal Dilated Cardiomyopathy.

Neonatal dilated cardiomyopathy (DCM) is rare with high etiologic heterogeneity. Recently, biallelic, autosomal recessive, pathogenic variants in RPL3L (ribosomal protein L3-like) have been reported in the literature with severe early-onset DCM. In the present brief report, we identified two pathogenic RPL3L variants, each harbored in unaffected heterozygous parents: mother (RPL3L c.