[Italian Society of Pediatric Cardiology (SICP) position paper on the prevention, diagnosis, treatment and follow-up of cardiotoxicity in pediatric patients with cancer].

The survival of pediatric cancer patients has significantly increased thanks to the improvement of oncological treatments. Therefore, it is of utmost importance to manage short- and long-term cardiovascular complications. In pediatric cardio-oncology, there are no recognized guidelines as in adults.

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.

UPF3B encodes the Regulator of nonsense transcripts 3B protein, a core-member of the nonsense-mediated mRNA decay pathway, protecting the cells from the potentially deleterious actions of transcripts with premature termination codons. Hemizygous variants in the UPF3B gene cause a spectrum of neuropsychiatric issues including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, and schizophrenia/childhood-onset schizophrenia (COS). The number of patients reported to date is very limited, often lacking an extensive phenotypical and neuroradiological description of this ultra-rare syndrome.

Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities. Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the gene encoding emerin, and the autosomal EDMD2, due to mutations in the gene encoding lamin A/C. A clear definition of the magnetic resonance imaging (MRI) pattern in the two forms, and especially in the rarer EDMD1, is still lacking, although a preferential involvement of the medial head of the gastrocnemius has been suggested in EDMD2.

Long term follow-up in two siblings with Sengers syndrome: Case report.

Background: Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to a more benign form allowing survival into adulthood, to an isolated form of congenital cataract. Thus far few reported cases have survived the second decade at their latest examination, and no natural history data are available for the disease.

Cardiovascular Manifestations in Multisystem Inflammatory Syndrome in Children (MIS-C) Associated with COVID-19 According to Age.

Cardiac involvement in multisystem inflammatory syndrome in children (MIS-C) associated with coronavirus-19 disease is often observed with a high risk of heart failure. The aim is to describe cardiovascular involvement, management and early outcome in MIS-C by comparing cardiovascular manifestations in children younger and older than 6 years old. This retrospective observational study included 25 children with MIS-C, admitted to a single pediatric center between March 2020 and September 2021.

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

TSFM is a nuclear gene encoding the elongation factor Ts (EFTs), an essential component of mitochondrial translational machinery. Impaired mitochondrial translation is responsible for neurodegenerative disorders characterized by multiple respiratory chain complex defects, multisystemic involvement, and neuroradiological features of Leigh-like syndrome. With the use of a next-generation sequencing (NGS)-based multigene panel for mitochondrial disorders, we identified the novel TSFM homozygous variant c.

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome.

Objectives: Mutations affecting the TMEM173 gene cause STING-associated vasculopathy with onset in infancy (SAVI). No standard immunosuppressive treatment approach is able to control disease progression in patients with SAVI. We studied the efficacy and safety of targeting type I IFN signaling with the Janus kinase inhibitor, ruxolitinib.

Hybrid procedure of right ventricle outflow tract stenting in small infants with pulmonary atresia and ventricular septal defect: early and mid-term results from a single centre.

Unlabelled: IntroductionPulmonary atresia, ventricular septal defect, major aorto-pulmonary collateral arteries, and pulmonary arteries hypoplasia are rare and complex congenital defects that require early interventions to relieve cyanosis and enhance the growth of native pulmonary arteries. The treatment of these patients is still controversial. Surgical techniques require cardiopulmonary bypass which is poorly tolerated by small infants.

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.

Mitochondrial disorders are a heterogeneous group of diseases sharing a defect of the oxidative phosphorylation system. Point mutations in the mitochondrial DNA are a common cause of mitochondrial disorders and frequently affect the sequences encoding mitochondrial transfer RNAs. The m.

Hirschsprung's Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single Institution.

Objective: To define the prevalence and characteristics of associated congenital heart diseases (CHDs) in patients with Hirschsprung's disease (HSCR).

Method: All patients with a histological diagnosis of HSCR admitted to our hospital between January 2010 and December 2013 were included in this prospective observational study and underwent cardiovascular screening. Cardiac anatomy was assessed by a segmental echocardiographic approach.

A prospective observational study of associated anomalies in Hirschsprung's disease.

Background: Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies and implementing a personalized and up-to-date diagnostic algorithm.

Methods: After Institutional Ethical Committee approval, 106 consecutive Hirschsprung patients admitted to our Institution between January 2010 and December 2012 were included.

Use of a telescopic system for transcatheter radiofrequency perforation and balloon valvotomy in infants with pulmonary atresia and intact ventricular septum.

Background: Pulmonary atresia and intact ventricular septum is a complex congenital heart disease with great morphological variability. Approximately two-thirds of patients may be suitable for transcatheter pulmonary valvotomy. We reviewed our experience in the use of two different percutaneous approaches to evaluate the impact on fluoroscopy time and morbidity of a new technique to perform transcatheter radiofrequency perforation and valvotomy in newborns with pulmonary atresia and intact ventricular septum.

Selective pulmonary artery embolization in two patients with single ventricle and acquired pulmonary vein occlusion.

Acquired pulmonary vein occlusion is a rare complication of surgical correction of complex congenital heart diseases. Associated vascular remodeling of arterial and venous vessels includes medial thickening, intimal fibrosis, and progressive development of aorto-pulmonary collaterals. The consequent pulmonary perfusion changes impact more importantly on a low pressure circulation such as the Fontan circuit.

Witnessing ischemia or proofing coronary atherosclerosis: two different windows on the same or on different pathways precipitating cardiovascular events?

Risk stratification and prevention of future cardiac events is an extremely relevant part of the daily medical practice in the large population of asymptomatic or scarcely symptomatic patients. The strategies available to this purpose encompass programs intended either to reduce progression and complications of atherosclerosis, and revascularization procedures aimed to reduce total ischemic burden. The former represents a primary prevention approach and fights the substrate of ischemic heart disease.