Asymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies: A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings.

Dystrophinopathies, such as Duchenne and Becker muscular dystrophy, frequently lead to cardiomyopathy, being its primary cause of mortality. Detecting cardiac dysfunction early is crucial, but current imaging methods lack insight into microstructural remodeling. This study aims to assess the potential of cardiac magnetic resonance (CMR) parametric mappings for early detection of myocardial involvement in dystrophinopathies and explores whether distinct involvement patterns may indicate impending dysfunction. In this prospective study, 23 dystrophinopathy patients underwent CMR with tissue mappings. To establish a basis for comparison, a control group of 173 subjects was analyzed. CMR protocols included SSFP, T2-weighted and T1-weighted sequences pre and post gadolinium, and tissue mappings for native T1 (nT1), extracellular volume (ECV), and T2 relaxation times. The difference between the left ventricular posterior wall and the interventricular septum was calculated to reveal asymmetric myocardial involvement. Significant differences in LV ejection fraction (LVEF), myocardial mass, and late gadolinium enhancement confirmed abnormalities in patients. Tissue mappings: nT1 (p < 0.001) and ECV (p = 0.002), but not T2, displayed substantial variations, suggesting sensitivity to myocardial involvement. Asymmetric myocardial involvement in nT1 (p = 0.01) and ECV (p = 0.012) between septal and LV posterior wall regions was significant. While higher mapping values didn't correlate with dysfunction, asymmetric involvement in nT1 (ρ=-0.472, p = 0.023) and ECV (ρ=-0.460, p = 0.049) exhibited a significant negative correlation with LVEF. CMR mappings show promise in early myocardial damage detection in dystrophinopathies. Although mapping values may not directly correspond to dysfunction, the negative correlation between asymmetric involvement in nT1 and ECV with LVEF suggests their potential as early biomarkers. Larger, longitudinal studies are needed for a comprehensive understanding and improved risk stratification in dystrophinopathies.

New-onset heart failure in infants: when the aetiological diagnosis becomes a challenge.

This study aimed to report the findings of cardiac magnetic resonance imaging (CMR) with quantitative mappings in infants presenting with new-onset heart failure, as well as to assess the capabilities of endomyocardial biopsy (EMB) and CMR in detecting inflammatory cardiomyopathies and determining their etiology. In a prospective analysis of infants who underwent CMR with tissue mappings, EMB, and genetic testing, the sample was categorized into two groups: those with inflammatory cardiomyopathy and negative genetics (indicative of possible myocarditis) and those with positive genetics (indicative of possible dilated cardiomyopathy). All patients exhibited similar clinical presentations, echocardiographic dysfunction, and elevated troponins and NT-proBNP levels. Additionally, they all met the diagnostic criteria for inflammatory cardiomyopathy based on EMB findings (≥14 mononuclear cells, ≥7 T-lymphocytes/mm2). EMB results unveiled significant differences in the presence of inflammation and edema between the two groups, with higher troponin levels correlating with increased inflammation. Notably, when focusing on CMR, neither the classic criteria nor the 2018 Lake Louise criteria (LLC) could effectively differentiate between the two groups. Only late gadolinium enhancement (LGE) appeared to be associated with myocarditis in this cohort, while other LLC and tissue mappings did not exhibit a similar correlation. Importantly, there was no observed correlation between the inflammation detected through EMB and CMR. CONCLUSIONS: The onset of heart dysfunction in infants can result from either inherited factors or viral infections, both of which may involve inflammation. However, the precise role of EMB and CMR in determining the etiology of such cases remains poorly defined. While CMR demonstrates high sensitivity in detecting inflammation, our experience suggests that it may not effectively differentiate between these two groups. A comprehensive diagnostic approach is essential when addressing this challenge, which includes considering EMB (with attention to the number of T-lymphocytes and the presence of oedema), specific CMR criteria, notably LGE and tissue mappings, as well as the identification of viral agents in cardiac tissue and troponin levels. Additionally, genetic tests should be conducted when evaluating these patients. WHAT IS KNOWN: • EMB is the gold standard diagnostic test for myocarditis but it is not universally accepted. • The diagnostic value of the 2018-LLC in pediatric patients is still undefined. WHAT IS NEW: • Both EMB and CMR may show inflammation in infants with new-onset heart failure of any aetiology. • A global approach should be used when facing this diagnostic challenge, including the EMB (number of T-lymphocytes and oedema), some CMR criteria, specially LGE and mappings, the detection of viral agents in cardiac tissue and troponins. Genetic tests should also be performed when studying these patients.

Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients.

Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disease caused by biallelic variants in the SLC2A10 gene (NG_016284.1) and characterised by tortuosity and elongation of the aorta and medium-sized arteries. It is considered an extremely rare disease; only 106 individuals with genetically confirmed ATS have been identified to date. Four cases of ATS from two families are described, contributing to the clinical delineation of this condition. A patient with microcephaly and a complex uropathy and two cases with diaphragmatic hernia are noticed. Regarding the vascular involvement, a predominant supra-aortic involvement stands out and only 1 patient with significant arterial stenoses was described. All presented severe tortuosity of the intracranial arteries. To reduce hemodynamic stress on the arterial wall, beta-adrenergic blocking treatment was prescribed. A not previously described variant (NM_030777.4:c.899T>G (p.Leu300Trp)) was detected in a proband; it has an allegedly deleterious effect in compound heterozygous state with the pathogenic variant c.417T>A (p.Tyr139Ter). The other 3 patients, siblings born to healthy consanguineous parents, had a variant in homozygous state: c.510G>A (p.Trp170Ter).

Myocardial tissue characterization by cardiovascular magnetic resonance T1 mapping and pericardial fat quantification in adolescents with morbid obesity. Cardiac dimorphism by gender.

PURPOSE: Changes in the myocardial extracellular matrix (ECM) identified using T1 mapping cardiovascular magnetic resonance (CMR) have been only reported in obese adults, but with opposite conclusions. The objectives are to assess the composition of the myocardial ECM in an obese pediatric population without type 2 diabetes by quantifying native T1 time, and to quantify the pericardial fat index (PFI) and their relationship with cardiovascular risk factors. METHODS: Observational case-control research of 25 morbidly obese adolescents and 13 normal-weight adolescents. Native T1 and T2 times (ms), left ventricular (LV) geometry and function, PFI (g/ht3) and hepatic fat fraction (HFF, %) were calculated by 1.5-T CMR. RESULTS: No differences were noticed in native T1 between obese and non-obese adolescents (1000.0 vs. 990.5 ms, p0.73), despite showing higher LV mass values (28.3 vs. 22.9 g/ht3, p0.01). However, the T1 mapping values were significantly higher in females (1012.7 vs. 980.7 ms, p < 0.01) while in males, native T1 was better correlated with obesity parameters, particularly with triponderal mass index (TMI) (r = 0.51), and inflammatory cells. Similarly, the PFI was correlated with insulin resistance (r = 0.56), highly sensitive C-reactive protein (r = 0.54) and TMI (r = 0.77). CONCLUSION: Female adolescents possess myocardium peculiarities associated with higher mapping values. In males, who are commonly more exposed to future non-communicable diseases, TMI may serve as a useful predictor of native T1 and pericardial fat increases. Furthermore, HFF and PFI appear to be markers of adipose tissue infiltration closely related with hypertension, insulin resistance and inflammation.

Different profiles of lipoprotein particles associate various degrees of cardiac involvement in adolescents with morbid obesity.

Introduction: Dyslipidemia secondary to obesity is a risk factor related to cardiovascular disease events, however a pathological conventional lipid profile (CLP) is infrequently found in obese children. The objective is to evaluate the advanced lipoprotein testing (ALT) and its relationship with cardiac changes, metabolic syndrome (MS) and inflammatory markers in a population of morbidly obese adolescents with normal CLP and without type 2 diabetes mellitus, the most common scenario in obese adolescents. Methods: Prospective case-control research of 42 morbidly obese adolescents and 25 normal-weight adolescents, whose left ventricle (LV) morphology and function had been assessed. The ALT was obtained by proton nuclear magnetic resonance spectroscopy, and the results were compared according to the degree of cardiac involvement - normal heart, mild LV changes, and severe LV changes (specifically LV remodeling and systolic dysfunction) - and related to inflammation markers [highly-sensitive C-reactive protein and glycoprotein A (GlycA)] and insulin-resistance [homeostatic model assessment for insulin-resistance (HOMA-IR)]. A second analysis was performed to compare our results with the predominant ALT when only body mass index and metabolic syndrome criteria were considered. Results: The three cardiac involvement groups showed significant increases in HOMA-IR, inflammatory markers and ALT ratio LDL-P/HDL-P (40.0 vs. 43.9 vs. 47.1, p 0.012). When only cardiac change groups were considered, differences in small LDL-P (565.0 vs. 625.1 nmol/L, p 0.070), VLDL size and GlycA demonstrated better utility than just traditional risk factors to predict which subjects could present severe LV changes [AUC: 0.79 (95% CI: 0.54-1)]. In the second analysis, an atherosclerotic ALT was detected in morbidly obese subjects, characterized by a significant increase in large VLDL-P, small LDL-P, ratio LDL-P/HDL-P and ratio HDL-TG/HDL-C. Subjects with criteria for MS presented overall worse ALT (specially in triglyceride-enriched particles) and remnant cholesterol values. Conclusions: ALT parameters and GlycA appear to be more reliable indicators of cardiac change severity than traditional CV risk factors. Particularly, the overage of LDL-P compared to HDL-P and the increase in small LDL-P with cholesterol-depleted LDL particles appear to be the key ALT's parameters involved in LV changes. Morbidly obese adolescents show an atherosclerotic ALT and those with MS present worse ALT values.

Delayed sequential abdominal wall closure in pediatric liver transplantation to overcome "large for size" scenarios.

BACKGROUND: Primary abdominal wall closure after pediatric liver transplantation (PLT) is neither always possible nor advisable, given the graft-recipient size discrepancy and its potential large-for-size scenario. Our objective was to report the experience accumulated with delayed sequential closure (DSC) guided by Doppler ultrasound control. METHODS: Retrospective analysis of DSC performed from 2013 to March 2020. RESULTS: Twenty-seven DSC (26.5%) were identified out of 102 PLT. Transplant indications and type of grafts were similar among both groups. In patients with DSC, mean weight and GRWR were 9.4 ± 5.5 kg (3.1-26 kg) and 4.7 ± 2.4 (1.9-9.7), significantly lower and higher than the primary closure cohort, respectively. The median time to achieve definitive closure was 6 days (range 3-23 days), and the median number of procedures was 4 (range 2-9). Patients with DSC had longer overall PICU (22.5 ± 16.9 vs. 9.1 ± 9.7 days, p < .05) and hospital stay (33.4 ± 19.1 vs 23, 9 ± 19.8 days (p < .05). These differences are less remarkable if the analysis is performed in a subgroup of patients weighing less than 10 kg. Two patients presented vascular complications (7.4%) within DSC group. No differences were seen when comparing overall, 3-year graft and patient survival (96% and 96% in the DSC group). CONCLUSIONS: DSC is a simple and safe technique to ensure satisfactory clinical outcomes to overcome "large for size" scenarios in PLT. In addition, we were able to avoid using a permanent biological material for closing the abdomen.

Transient upper limb ischaemia during veno-arterial extracorporeal membrane oxygenation in a child.

Neck cannulation is the most common cannulation strategy performed to provide veno-arterial extracorporeal membrane oxygenation support in paediatric patients, especially in small children. Upper limb ischaemia is a rare complication of neck cannulation and is likely caused by arterial cannula malposition. We describe a case of right arm ischaemia caused by extrinsic compression of the right subclavian artery by the venous drainage cannula inserted through the right internal jugular vein. Upper limb hypoperfusion was resolved immediately after changing the venous drainage cannula from the right jugular vein to the right femoral vein.

Ileocolic intussusception: Predicting the probability of success of ultrasound guided saline enema from clinical and sonographic data.

BACKGROUND/PURPOSE: To identify factors that dim the efficacy of ultrasound guided saline enema (USGSE) and to design a mathematical model for predicting the probability of success of USGSE. METHODS: Retrospective review of patients admitted with the diagnosis of ileocolic intussusception from 2009 to 2014. Demographics, clinical and sonographic data were reviewed. RESULTS: 116 first episodes of ileocolic intussusceptions. 109 USGSE attempts were analyzed. Composite reduction rate was 77%. A significant relationship was found between initial location of the intussusception, free peritoneal fluid (OR=0.329, 95% CI: 0.124-0.875), negative Doppler signal and sonographic signs of intestinal occlusion and unsuccessful USGSE. Initial location beyond the splenic angle was an independent risk factor for USGSE failure (OR=0.053, 95% CI: 0.005-0.534). A predictive model based on onset of symptoms, free peritoneal fluid and intussusception location was a reliable tool for prediction (AUC 0.63, 95% CI: 0.53-0.817). Assuming that a patient with less than 75.3% chance of USGSE success is going to fail, we would identify more than 80.9% of the real failures. CONCLUSIONS: This predictive model could be a filter selection for the patients at risk of USGSE failure and therefore candidates to further imaging investigations or referral to a surgical unit. LEVEL OF EVIDENCE: III.

Use of 3D Prototypes for Complex Surgical Oncologic Cases.

INTRODUCTION: Physical 3D models known by the industry as rapid prototyping involve the creation of a physical model from a 3D computer version. In recent years, there has been an increasing number of reports on the use of 3D models in medicine. Printing such 3D models with different materials integrating the many components of human anatomy is technically challenging. In this article, we report our technological developments along with our clinical implementation experience using high-fidelity 3D prototypes of tumors encasing major vessels in anatomically sensitive areas. METHODS: Three patients with tumors encasing major vessels that implied complex surgery were selected for surgical planning using 3D prototypes. 3D virtual models were obtained from routine CT and MRI images. The models, with all their anatomical relations, were created by an expert pediatric radiologist and a surgeon, image by image, along with a computerized-aided design engineer. RESULTS: Surgeons had the opportunity to practice on the model before the surgery. This allowed questions regarding surgical approach; feasibility and potential complications to be raised in advance of the actual procedure. All patients then successfully underwent surgery as planned. CONCLUSION: Having a tumor physically printed in its different main component parts with its anatomical relationships is technically feasible. Since a gross total resection is prognostic in a significant percentage of tumor types, refinements in planning may help achieve greater and safer resections therefore contributing to improve surgical management of complex tumors. In this early experience, 3D prototyping helped significantly in the many aspects of surgical oncology planning.