Congenital Heart Malformations Masked by Infantile Gangliosidosis-Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies.

Gangliosidosis (ORPHA: 79255) is an autosomal recessive lysosomal storage disease (LSD) with a variable phenotype and an incidence of 1:200000 live births. The underlying genotype is comprised GLB1 mutations that lead to ß-galactosidase deficiency and subsequently to the accumulation of monosialotetrahexosylganglioside (GM1) in the brain and other organs. In total, two diseases have been linked to this gene mutation: Morquio type B and Gangliosidosis. The most frequent clinical manifestations include dysmorphic facial features, nervous and skeletal systems abnormalities, hepatosplenomegaly, and cardiomyopathies. The correct diagnosis of GM1 is a challenge due to the overlapping clinical manifestation between this disease and others, especially in infants. Therefore, in the current study we present the case of a 3-month-old male infant, admitted with signs and symptoms of respiratory distress alongside rapid progressive heart failure, with minimal neurologic and skeletal abnormalities, but with cardiovascular structural malformations. The atypical clinical presentation raised great difficulties for our diagnostic team. Unfortunately, the diagnostic of GM1 was made postmortem based on the DBS test and we were able to correlate the genotype with the unusual phenotypic findings.

Pathogen-Specific Benefits of Probiotic and Synbiotic Use in Childhood Acute Gastroenteritis: An Updated Review of the Literature.

Probiotics represent viable microorganisms which are found within the normal gut microbiota, that exert strain-specific benefits in the management of several gastrointestinal disorders in children, including acute gastroenteritis. This review aims to evaluate the pathogen-specific role of probiotic supplementation in childhood diarrhea. A search of scientific databases was conducted to identify studies which investigated efficacy of probiotics and synbiotics in influencing outcome of acute gastroenteritis of known etiology. We identified 32 studies, most of which analyzed impact of probiotic supplementation in rotavirus gastroenteritis, while a very limited number of these conducted a separate analysis on bacterial diarrhea. Lactobacillus rhamnosus (L. rhamnosus), L. reuteri and S. boulardii still remain the most researched strains, with a proven role in decreasing diarrhea and hospitalization duration, especially in the setting of rotavirus infection. Combined products containing at least one of the aforementioned strains also performed similarly and might also influence rotavirus fecal shedding. Rotavirus immunization status has also been proposed as a significant influencing factor of probiotic use impact. The paucity of research focusing on bacterial etiologies, as well as of clinical trials conducted within ambulatory care units leaves room for further research on the matter, which needs to include larger cohort studies.

Total Anomalous Pulmonary Venous Return in the Time of SARS-CoV-2-Case Report.

The management of children with complex and life-threatening heart malformations became a clinical conundrum during the SARS-CoV-2 pandemic. The pathophysiological features of the new coronavirus infection have raised major dilemmas regarding the postoperative evolution of an infected patient, and the epidemiological limitations have tightened the criteria for selecting cases. We present the case of a newborn diagnosed with total anomalous pulmonary venous return (TAPVR) who underwent surgical repair of the defect with favorable outcome, despite a prior diagnosis of SARS-CoV-2 infection. We discuss the medical and surgical management of TAPVR, highlighting possible management difficulties brought by the SARS-CoV-2 pandemic.

Nutritional Approach in Selected Inherited Metabolic Cardiac Disorders-A Concise Summary of Available Scientific Evidence.

Inborn errors of metabolism (IMDs) are a group of inherited diseases that manifest themselves through a myriad of signs and symptoms, including structural or functional cardiovascular damage. The therapy of these diseases is currently based on enzyme-replacement therapy, chaperone therapy or the administration of supplements and the establishment of personalized dietary plans. Starting from the major signs identified by the pediatric cardiologist that can indicate the presence of such a metabolic disease-cardiomyopathies, conduction disorders or valvular dysplasias-we tried to paint the portrait of dietary interventions that can improve the course of patients with mitochondrial diseases or lysosomal abnormalities. The choice of the two categories of inborn errors of metabolism is not accidental and reflects the experience and concern of the authors regarding the management of patients with such diagnoses. A ketogenic diet offers promising results in selected cases, although, to date, studies have failed to bring enough evidence to support generalized recommendations. Other diets have been successfully utilized in patients with IMDs, but their specific effect on the cardiac phenotype and function is not yet fully understood. Significant prospective studies are necessary in order to understand and establish which diet best suits every patient depending on the inherited metabolic disorder. The most suitable imagistic monitoring method for the impact of different diets on the cardiovascular system is still under debate, with no protocols yet available. Echocardiography is readily available in most hospital settings and brings important information regarding the impact of diets on the left ventricular parameters. Cardiac MRI (magnetic resonance imaging) could better characterize the cardiac tissue and bring forth both functional and structural information.

Atherosclerosis from Newborn to Adult-Epidemiology, Pathological Aspects, and Risk Factors.

Cardiovascular disease is the leading cause of mortality and morbidity throughout the world, accounting for 16.7 million deaths each year. The underlying pathological process for the majority of cardiovascular diseases is atherosclerosis, a slowly progressing, multifocal, chronic, immune-inflammatory disease that involves the intima of large and medium-sized arteries. The process of atherosclerosis begins in childhood as fatty streaks-an accumulation of lipids, inflammatory cells, and smooth muscle cells in the arterial wall. Over time, a more complex lesion develops into an atheroma and characteristic fibrous plaques. Atherosclerosis alone is rarely fatal; it is the further changes that render fibrous plaques vulnerable to rupture; plaque rupture represents the most common cause of coronary thrombosis. The prevalence of atherosclerosis is increasing worldwide and more than 50% of people with circulatory disease die of it, mostly in modern societies. Epidemiological studies have revealed several environmental and genetic risk factors that are associated with the early formation of a pathogenic foundation for atherosclerosis, such as dyslipidemia, hypertension, diabetes mellitus, obesity, and smoking. The purpose of this review is to bring together the current information concerning the origin and progression of atherosclerosis in childhood as well as the identification of known risk factors for atherosclerotic cardiovascular disease in children.

Increasing Trends in Obesity-Related Cardiovascular Risk Factors in Romanian Children and Adolescents-Retrospective Study.

Childhood obesity has become a global public health issue and its assessment is essential, as an obese child is a future overweight or obese adult. Obesity is no longer a matter of exercising more and eating less, with several factors coming into play and dictating the pattern of fat accumulation and the ease/difficulty of reducing it. In the current paper, we aimed to analyze the cardiovascular impact of obesity in a large number of patients alongside the paraclinical changes that occur due to weight gain, and to perform an analysis on the increase in prevalence throughout our research. The main cardiovascular conditions identified were hypertension (15.36%), septal or concentric hypertrophic cardiomyopathy (11.15%), atherosclerosis risk (13.04%), and hypercholesterolemia (20.94%). We have used echocardiography to measure the thickness of epicardial adipose tissue (useful for assessing the patient's cardiovascular risk), and we observed that it was greater in children with moderate and severe obesity alongside diastolic dysfunction of the left ventricle in the whole group, without any connection with hypertension or coronary impairment. Obese children will be affected by increased cardiovascular mortality and morbidity in adulthood and they may experience early cardiovascular dysfunction. We want to strongly underline the importance and necessity of programs for the early detection and prevention of obesity and its complications, especially since interesting phenomena such as the "obesity paradox" exist and prove that obesity is far less understood than it is at a first glance.

Difficulties in Diagnosis and Therapy of Infective Endocarditis in Children and Adolescents-Cohort Study.

Despite the progress in management and prophylaxis measures, infective endocarditis (IE) is still a condition associated with high mortality rates and severe complications. Fortunately, the incidence of IE is much lower in children and adolescents, with only 0.05-0.12/1000 cases being reported in hospitalized pediatric patients. According to recent data, IE is, in most cases, a complication of pre-existing congenital heart disorders, in up to 75-90% of cases. About 8-10% of all IE cases occur in children without a pre-existing heart condition, due to the widespread use of catheters and invasive procedures, or are associated with immunosuppression. The overall mortality rate due to IE among children and adolescents is 16-25%, a fairly high incidence despite advances made in management and treatment methodologies. We present a retrospective case study conducted in the Pediatric Cardiology Department of 'St. Maria' Emergency Children's Hospital of Iași between February 2007 and February 2020, including 54 children aged between 23 days and 17 years. Our study was aimed at revealing the evolution of IE in recent years in the pediatric population, at identifying the main causes leading to the onset and progress of the disease, at assessing the incidence of clinical and paraclinical manifestations and at determining efficient diagnosis and therapy approaches for the population under survey.