Diagnostic accuracy of the response to the brief tachycardia provoked by standing in children suspected for long QT syndrome

BACKGROUND Adult long QT syndrome (LQTS) patients have inadequate corrected QT interval (QTc) shortening and an abnormal T-wave response to the sudden heart rate acceleration provoked by standing. In adults, this knowledge can be used to aid an LQTS diagnosis and, possibly, for risk stratification. However, data on the diagnostic value of the standing test in children are currently limited. OBJECTIVE To determine the potential value of the standing test to aid LQTS diagnostics in children. METHODS In a prospective cohort including children (= 490 ms after standing only slightly increased sensitivity (91%, 95% confidence interval [CI]: 80%-98%) and slightly decreased specificity (58%, 95% CI: 47%-70%). Sensitivity increased slightly more when T-wave abnormalities were present (94%, 95% CI: 82%-99%; specificity 53%, 95% CI: 42%-65%). When a baseline QTc >= 440 ms was accompanied by a QTc >= 490 ms and T-wave abnormalities after standing, sensitivity further increased (96%, 95% CI: 85%-99%) at the expense of a further specificity decrease (41%, 95% CI: 30%-52%). Beat-to-beat analysis showed that 30 seconds after standing, LQTS children had a greater increase in heart rate compared to controls, which was more evidently present in LQTS boys and LQTS type 1 children. CONCLUSION In children, the standing test has limited additive diagnostic value for LQTS over a baseline electrocardiogram, while T-wave abnormalities after standing also have limited additional value. The standing test for LQTS should only be used with caution in children.Developmen

In children and adolescents from Brugada syndrome-families, only SCN5A mutation carriers develop a type-1 ECG pattern induced by fever

Developmen

Screening, diagnosis and follow-up of Brugada syndrome in children: a Dutch expert consensus statement

Brugada syndrome (BrS) is a rare inherited arrhythmia syndrome. Affected children may experience life-threatening symptoms, mainly during fever. The percentage of SCN5A variant carriers in children is higher than in adults. Current diagnostic and follow-up policies for children with (a family history of) BrS vary between centres. Here, we present a consensus statement based on the current literature and expert opinions to standardise the approach for all children with BrS and those from BrS families in the Netherlands. In summary, BrS is diagnosed in patients with a spontaneous type 1 electrocardiogram (ECG) pattern or with a Shanghai score >= 3.5 including >= 1 ECG finding. A sodium channel-blocking drug challenge test should only be performed after puberty with a few exceptions. A fever ECG is indicated in children with suspected BrS, in children with a first-degree family member with definite or possible BrS according to the Shanghai criteria with a SCN5A variant and in paediatric SCN5A variant carriers. In-hospital rhythm monitoring during fever is indicated in patients with an existing type 1 ECG pattern and in those who develop such a pattern. Genetic testing should be restricted to SCN5A. Children with BrS and children who carry an SCN5A variant should avoid medication listed at and fever should be suppressed. Ventricular arrhythmias or electrical storms should be treated with isoproterenol infusion

Diagnostic accuracy of the standing test in adults suspected for congenital long-QT syndrome

BackgroundAn elegant bedside provocation test has been shown to aid the diagnosis of long‐QT syndrome (LQTS) in a retrospective cohort by evaluation of QT intervals and T‐wave morphology changes resulting from the brief tachycardia provoked by standing. We aimed to prospectively determine the potential diagnostic value of the standing test for LQTS.Methods and ResultsIn adults suspected for LQTS who had a standing test, the QT interval was assessed manually and automated. In addition, T‐wave morphology changes were determined. A total of 167 controls and 131 genetically confirmed patients with LQTS were included. A prolonged heart rate–corrected QT interval (QTc) (men ≥430 ms, women ≥450 ms) at baseline before standing yielded a sensitivity of 61% (95% CI, 47–74) in men and 54% (95% CI, 42–66) in women, with a specificity of 90% (95% CI, 80–96) and 89% (95% CI, 81–95), respectively. In both men and women, QTc≥460 ms after standing increased sensitivity (89% [95% CI, 83–94]) but decreased specificity (49% [95% CI, 41–57]). Sensitivity further increased (PConclusionsDespite earlier retrospective studies, a baseline ECG and the standing test in a prospective evaluation displayed a different diagnostic profile for congenital LQTS but no unequivocal synergism or advantage. This suggests that there is markedly reduced penetrance and incomplete expression in genetically confirmed LQTS with retention of repolarization reserve in response to the brief tachycardia provoked by standing.Developmen

Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia

Aims In catecholaminergic polymorphic ventricular tachycardia (CPVT), the exercise-stress test (EST) is the cornerstone for the diagnosis, risk stratification, and assessment of therapeutic efficacy, but its repeatability is unknown. We aimed to test the repeatability of ventricular arrhythmia characteristics on the EST in patients with CPVT. Methods and results EST-pairs (ESTs performed within 18 months between 2005 and 2021, on the same protocol, and without or on the exact same treatment) of patients with RYR2-mediated CPVT from two specialized centres were included. The primary endpoint was the repeatability of the maximum ventricular arrhythmia score [VAS: 0 for the absence of premature ventricular contractions (PVCs); 1 for isolated PVCs; 2 for bigeminal PVCs; 3 for couplets; and 4 for non-sustained ventricular tachycardia]. Secondary outcomes were the repeatability of the heart rate at the first PVC and the Delta VAS (the absolute difference in VAS between the EST-pairs). A total of 104 patients with 349 EST-pairs were included. The median duration between ESTs was 343 (interquartile range, 189-378) days. Sixty (17.2%) EST-pairs were off therapy. The repeatability of the VAS was moderate {Krippendorf alpha, 0.56 [95% confidence interval (CI), 0.48-0.64]}, and the repeatability of the heart rate at the first PVC was substantial [intra-class correlation coefficient, 0.78 (95% CI, 0.71-0.84)]. The use of medication was associated with a higher odds for a Delta VAS > 1 (odds ratio = 3.52; 95% CI, 2.46-4.57; P = 0.020). Conclusion The repeatability of ventricular arrhythmia characteristics was moderate to substantial. This underlines the need for multiple ESTs in CPVT patients and CPVT suspicious patients and it provides the framework for assessing the therapeutic efficacy of novel CPVT therapies.Developmen

Avaliação do estado nutricional de atletas de ginástica olímpica do Rio de Janeiro e São Paulo Nutritional status evaluation of olympic gymnastics athletes from Rio de Janeiro and São Paulo, Brazil

Com o objetivo de avaliar o estado nutricional de atletas de ginástica olímpica, do sexo feminino, foram estudadas 46 ginastas, de 11 a 14 anos, pertencentes a clubes e academias das cidades do Rio de Janeiro e São Paulo. O estudo antropométrico envolveu medidas de massa corporal, estatura, dobras cutâneas e perímetros. Observou-se diferença significativa para as dobras cutâneas tricipital, suprailíaca, da coxa e da panturrilha e para o percentual de gordura (p<0,05). Para o estudo dietético foram utilizados recordatório de 24 horas e registro alimentar de três dias. As ginastas apresentaram baixo consumo energético. A percentagem de carboidratos, 50% a 58%, e a ingestão protéica de 1,5 a 1,7 g/kg de peso mostraram-se baixa e adequada, respectivamente, frente ao proposto para atletas. O conteúdo de vitaminas foi satisfatório, com exceção do ácido fólico para as adolescentes cariocas. Os minerais julgados inadequados foram cálcio, magnésio, ferro e zinco. O estado nutricional de ferro não apresentou alterações.<br>The purpose of this study was to evaluate the nutritional status of 46 female olympic gymnastics athletes, aged 11 to 14 years old, attending private gymnastics clubs of the cities of Rio de Janeiro and São Paulo. The anthropometric assessment involved measurements of height, body mass, skinfold thickness and circumferences. Significant difference was observed for the triceps, suprailiac, mid thigh and medial calf skinfolds and for the percentage of body fat (p<0.05). For the assessment of dietary intake a 24-hour recall and a 3-day self-register were used. The energy consumption and the percentage of carbohydrates (50% to 58%) in the diet were low and the protein ingestion (1.5 to 1.7 g/kg of body weight) was appropriate, according to values proposed for athletes. Vitamin intake was satisfactory, except for folic acid of gymnasts from Rio de Janeiro. From the minerals assessed, the intake of calcium, magnesium, zinc and iron was inadequate. No clinical signs of iron deficiency were observed

Poor Compliance with Guidelines on Anemia Treatment in a Cohort of Chronic Hemodialysis Patients

Item does not contain fulltextBACKGROUND/AIMS: Guidelines for the management of anemia and iron deficiency in chronic hemodialysis (HD) patients have been developed to standardize therapy and improve clinical outcome. The present study evaluated compliance with anemia guidelines and investigated whether differences between centers were present. METHODS: Data on anemia management from patients in the baseline cohort of the CONTRAST study (NCT00205556) were analyzed. 598 chronic HD patients (62% male, age 63.6 +/- 14.0 years) from 26 Dutch dialysis centers were included. RESULTS: Mean hemoglobin (Hb) level was 11.9 +/- 1.3 g/dl and Hb was >/=11.0 g/dl in 81% of the patients. Compliance with all anemia targets (Hb 11.0-12.0 g/dl, transferrin saturation ratio >/=20%, ferritin 100-500 ng/ml) was reached in 11.6% (95% CI 7.8-17.0) of the patients, with a wide range among centers (4-26%, adjusted for case mix, treatment-related factors and center-specific characteristics). CONCLUSION: Compliance with anemia targets in stable HD patients was poor and showed a wide variation between treatment facilities

Clinical predictors of decline in nutritional parameters over time in ESRD

Item does not contain fulltextBACKGROUND AND OBJECTIVES: Inflammation and malnutrition are important features in patients with ESRD; however, data on changes in these parameters over time are scarce. This study aimed to gain insight into changes over time in serum albumin, body mass index, high-sensitivity C-reactive protein, and IL-6 in patients with ESRD and aimed to identify clinical risk factors for deterioration of these parameters. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Data were analyzed from the Convective Transport Study, a randomized controlled trial conducted from June 2004 to January 2011, in which 714 patients with chronic ESRD were randomized to either online hemodiafiltration or low-flux hemodialysis. Albumin and body mass index were measured up to 6 years and predialysis C-reactive protein and IL-6 were measured up to 3 years in a subset of 405 participants. Rates of change in these parameters over time were estimated across strata of predefined risk factors with linear mixed-effects models. RESULTS: Albumin and body mass index decreased and C-reactive protein and IL-6 increased over time. For every incremental year of age at baseline, the yearly excess decline in albumin was 0.003 g/dl (-0.004 to -0.002; P<0.001) and the excess decline in body mass index was 0.02 kg/m(2) per year (-0.02 to -0.01; P<0.001). In patients with diabetes mellitus, there was a yearly excess decline of 0.05 g/dl in albumin (-0.09 to -0.02; P=0.002). Compared with women, men had an excess decline of 0.03 g/dl per year in albumin (-0.06 to -0.001; P=0.05) and an excess increase of 11.6% per year in IL-6 (0.63%-23.6%; P=0.04). CONCLUSIONS: Despite guideline-based care, all inflammatory and nutritional parameters worsened over time. The deterioration of some of these parameters was more pronounced in men, older patients, and patients with diabetes mellitus. Special focus on the nutritional status of at-risk patients by individualizing medical care might improve their prognosis