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Purpose: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD) is a rare fatty acid oxidation disorder characterized by recurrent episodes of metabolic decompensation and rhabdomyolysis, as well as retinopathy, peripheral neuropathy, and cardiac involvement, such as infantile dilated cardiomyopathy. Because LCHADD patients are surviving longer, we sought to characterize LCHADD-associated major cardiac involvement in adolescence and young adulthood., Methods: A retrospective cohort of 16 adolescent and young adult participants with LCHADD was reviewed for cardiac phenotype., Results: Major cardiac involvement occurred in 9 of 16 participants, including sudden death, out-of-hospital cardiac arrest, acute cardiac decompensations with heart failure and/or in-hospital cardiac arrest, end-stage dilated cardiomyopathy, and moderate restrictive cardiomyopathy. Sudden cardiac arrest was more common in males and those with a history of infant cardiomyopathy., Conclusion: The cardiac manifestations of LCHADD in adolescence and early adulthood are complex and distinct from the phenotype seen in infancy. Life-threatening arrhythmia occurs at substantial rates in LCHADD, often in the absence of metabolic decompensation or rhabdomyolysis. The potential risk factors identified here-male sex and history of infant cardiomyopathy-may hint at strategies for risk stratification and possibly the prevention of these events., Competing Interests: Conflict of Interest M.B.G. has received speaker honorium from Ultragenyx Pharmaceutical Inc., Vitaflow, and Nutricia, consulting fee from Nestle Bioscience and received research grant/funds from Nestle Bioscience and Reneo Pharmaceutical. C.O.H. has recieved research funding from Nestle Bioscience and Reneo Pharmaceutical. G.E., A.S., C.G.d.A., A.G., and J.M.V. have no conflicts of interest to report., (Copyright © 2024 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

Transcatheter pulmonary valve replacement (TPVR) is commonly performed in patients with congenital heart disease as a safe alternative to replacement via open heart surgery. Intracardiac echocardiography (ICE) is a useful technique for evaluating multiple structures that are difficult to assess by other echocardiographic techniques, particularly the pulmonary valve. To our knowledge, the use of three-dimensional (3D) ICE catheters to evaluate prosthetic valves after TPVR has not been reported. Three-dimensional ICE catheters offer a comprehensive evaluation of transcatheter-deployed pulmonary valves through 3D, 3D color, xPlane, and multiplane reconstruction. The aim of this study is to demonstrate the feasibility of using 3D ICE catheters, outline their role in evaluating post-TPVR deployment success and complications, consider their additive value to two-dimensional ICE, and present our institutional experience with it in 50 cases of TPVR., Competing Interests: Conflicts of Interest J.E.Z. and G.J.M are consultants for Philips. The remaining authors have nothing to disclose., (Copyright © 2023 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.)

Background: Late gadolinium enhancement (LGE) sequences have become common in pediatric cardiovascular magnetic resonance (CMR) to assess for myocardial fibrosis. Bright-blood late gadolinium enhancement (BB-LGE) by conventional phase-sensitive inversion recovery (PSIR) is commonly utilized, but similar inversion time (TI) value of fibrosis and left ventricular (LV) blood pool can make subendocardial areas difficult to assess. A gray-blood LGE (GB-LGE) technique has been described, targeting nulling of the LV blood pool and demonstrating improvement in ischemic scar detection over BB-LGE in adult patients. We sought to evaluate the feasibility of the GB-LGE technique in a young population with congenital and acquired heart disease and compare its ability to detect subendocardial scar to conventional BB-LGE., Methods: Seventy-six consecutive patients referred for clinical CMR underwent both BB-LGE and GB-LGE on 1.5 T and 3 T scanners. Conventional PSIR sequences were obtained with TI to null the myocardium (BB-LGE) in short-axis and horizontal long-axis stacks. Same PSIR stacks were immediately repeated with TI to null the blood pool (GB-LGE). Both sequences were reviewed separately a week apart by two readers, blinded to the initial clinical interpretation. Studies were analyzed for overall image quality, confidence in scar detection, confidence in detection of LGE, LGE class, inter- and intra-observer agreement for the presence of scar, and intraclass correlation coefficient (ICC) for total scar burden., Results: Overall confidence in myocardial scar detection by BB-LGE or GB-LGE as well as grading of image quality were not statistically different [( p  = 1 and p  = 1) and ( p  = 0.53, p  = 0.18), respectively]. There was very good inter-observer agreement for the presence of scar on BB-LGE ( K  = 0.88, 95% CI 0.77-0.99) and GB-LGE ( K  = 0.84, 95% CI 0.7-0.96), as well as excellent intra-observer agreement for both readers ( K  = 0.93, 95% CI 0.87-0.99; and K  = 0.81, 95% CI 0.69-0.95). Interclass correlation coefficient for total scar burden was excellent for BB-LGE (ICC = 0.98, 95% CI 0.96-0.99) and GB-LGE (ICC = 0.94, 95% CI 0.91-0.97)., Conclusions: The GB-LGE technique is feasible in the pediatric population with congenital and acquired heart disease. It can detect subendocardial/ischemic scar similar to conventional bright-blood PSIR sequences in the pediatric population., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Gonzalez de Alba, Moghari, Browne, Friesen, Fonseca and Malone.)

RationaleAspirin resistance has been reported in up to 80% of children with cardiovascular defects undergoing surgery. Because of a patient who had embolic stroke while on therapeutic aspirin dose but in whom aspirin resistance was present on his thromboelastography platelet mapping, we chose to obtain thromboelastography platelet mapping on cardiac patients on aspirin to assess their risk. OBJECTIVES: This study evaluates aspirin resistance noted in these patients and their characteristics.Methods and resultsThis is a retrospective study of 25 patients taking aspirin for a month at therapeutic dose. In total, 11 female patients were enrolled. Ages in all subjects were 5 months to 27 years. A total of 19 patients had a Fontan surgery. Three had a cavopulomanary anastomosis, one had a hybrid procedure, and two had coronary anomalies. Compliance was assessed at the time of the clinic visit. Aspirin resistance was defined as platelet inhibition below 50%. Variables evaluated were level of platelet inhibition, age, body mass index, and gender.

Experience with cardiac magnetic resonance to evaluate coronary arteries in children and young adult patients is limited. Because noninvasive imaging has advantages over coronary angiography, we compared the effectiveness of these techniques in patients who were being considered for percutaneous pulmonary valve implantation. We retrospectively reviewed the cases of 26 patients (mean age, 12.53 ± 4.85 yr; range, 5-25 yr), all of whom had previous right ventricular-to-pulmonary artery homografts. We studied T2-prepared whole-heart images for coronary anatomy, velocity-encoded cine images for ventricular morphology, and function- and time-resolved magnetic resonance angiographic findings. Cardiac catheterization studies included coronary angiography, balloon compression testing, right ventricular outflow tract, and pulmonary artery anatomy. Diagnostic-quality images were obtained in 24 patients (92%), 13 of whom were considered suitable candidates for valve implantation. Two patients (8%) had abnormal coronary artery anatomy that placed them at high risk of coronary artery compression during surgery. Twelve patients underwent successful valve implantation after cardiac magnetic resonance images and catheterization showed no increased risk of compression. We attempted valve implantation in one patient with unsuitable anatomy but ultimately placed a stent in the homograft. Magnetic resonance imaging of coronary arteries is an important noninvasive study that may identify patients who are at high risk of coronary artery compression during percutaneous pulmonary valve implantation, and it may reveal high-risk anatomic variants that can be missed during cardiac catheterization.

Evidence suggests that exposure to arsenic in drinking water during early childhood or in utero has been associated with an increase in respiratory symptoms or diseases in the adulthood, however only a few studies have been carried out during those sensitive windows of exposure. Recently our group demonstrated that the exposure to arsenic during early childhood or in utero in children was associated with impairment in the lung function and suggested that this adverse effect could be due to a chronic inflammation response to the metalloid. Therefore, we designed this cross-sectional study in a cohort of children associating lung inflammatory biomarkers and lung function with urinary As levels. A total of 275 healthy children were partitioned into four study groups according with their arsenic urinary levels. Inflammation biomarkers were measured in sputum by ELISA and the lung function was evaluated by spirometry. Fifty eight percent of the studied children were found to have a restrictive spirometric pattern. In the two highest exposed groups, the soluble receptor for advanced glycation end products' (sRAGE) sputum level was significantly lower and matrix metalloproteinase-9 (MMP-9) concentration was higher. When the biomarkers were correlated to the urinary arsenic species, negative associations were found between dimethylarsinic (DMA), monomethylarsonic percentage (%MMA) and dimethylarsinic percentage (%DMA) with sRAGE and positive associations between %DMA with MMP-9 and with the MMP-9/tissue inhibitor of metalloproteinase (TIMP-1) ratio. In conclusion, chronic arsenic exposure of children negatively correlates with sRAGE, and positively correlated with MMP-9 and MMP-9/TIMP-1 levels, and increases the frequency of an abnormal spirometric pattern. Arsenic-induced alterations in inflammatory biomarkers may contribute to the development of restrictive lung diseases., (Copyright © 2015 Elsevier Inc. All rights reserved.)

The lung is a target organ for adverse health outcomes following exposure to As. Several studies have reported a high prevalence of respiratory symptoms and diseases in subjects highly exposed to As through drinking water; however, most studies to date has been performed in exposed adults, with little information on respiratory effects in children. The objective of the study was to evaluate the association between urinary levels of As and its metabolites with lung function in children exposed in utero and in early childhood to high As levels through drinking water. A total of 358 healthy children were included in our study. Individual exposure was assessed based on urinary concentration of inorganic As. Lung function was assessed by spirometry. Participants were exposed since pregnancy until early childhood to an average water As concentration of 152.13 µg l⁻¹. The mean urinary As level registered in the studied subjects was 141.2 µg l⁻¹ and only 16.7% had a urinary concentration below the national concern level. Forced vital capacity was significantly decreased in the studied population and it was negatively associated with the percentage of inorganic As. More than 57% of the subjects had a restrictive spirometric pattern. The urinary As level was higher in those children with restrictive lung patterns when compared with the levels registered in subjects with normal spirometric patterns. Exposure to As through drinking water during in utero and early life was associated with a decrease in forced vital capacity and with a restrictive spirometric pattern in the children evaluated., (Copyright © 2014 John Wiley & Sons, Ltd.)