Do children with asymptomatic ventricular preexcitation have similar quality of life as healthy children?

BACKGROUND: To our knowledge, no studies have assessed quality of life (QoL) in asymptomatic children with a preexcitation electrocardiogram pattern. AIM: To evaluate the QoL of children with asymptomatic Wolff-Parkinson-White (WPW) syndrome. METHODS: This study involved QoL assessment of 31 children with asymptomatic preexcitation and 82 healthy children using the WHOQOL-BREF and the Pediatric Arrhythmia Related Score (PARS), a specific questionnaire that we have developed, which is related to patients' feelings and observations concerning arrhythmia. RESULTS: There were no significant differences between the two groups in all the measured domains; however, there were significant differences regarding general satisfaction with their health condition (P = 0.01). There were no differences in general satisfaction with the QoL, but WPW children more often experienced palpitations than the control group (P <0.001) and were more likely to feel sad (P = 0.046) and nervous (P = 0.04) compared to healthy children. CONCLUSIONS: The children with WPW were more dissatisfied with their health compared to healthy children. Although both groups of children had similar levels of satisfaction with their QoL, some areas of physical and psychological parameters of QoL were worse in WPW children. The PARS questionnaire is a useful tool as a disease-specific QoL instrument, which supplements the general questionnaire and aids in clinical practice and decision-making.

Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease.

Familial thoracic aortic aneurysms and dissections may occur as an isolated hereditary trait or as part of connective tissue disorders with Mendelian inheritance, but severe cardiovascular disease in pediatric patients is extremely rare. There is growing knowledge on pathogenic variants causing the disease; however, much of the phenotypic variability and gene-gene interactions remain to be discovered. We present a case report of a 5.5-year-old girl with an aortic aneurysm and concomitant polycystic kidney disease. Whole exome sequencing was performed, followed by family screening by amplicon deep sequencing and diagnostic imaging studies. In the proband, two pathogenic variants were identified: p.Tyr257Ter in the LOX gene inherited from her mother, and p.Thr2977Ile in the PKD1 gene inherited from her father. All adult carriers of either of these variants showed symptoms of aortic disease. We conclude that the coexistence of two independent genetic variants in the proband may be the reason for an early onset of disease.

SARS-CoV-2 attacks the weakest point - COVID-19 course in a pediatric patient with Friedreich's ataxia.

COVID-19 pandemic is the biggest epidemiologic problem of the 21st century. A severe course of SARS-CoV-2 infection in children is rare. Sometimes, especially in patients with chronic disease, COVID-19 may be insidious and life-threatening. This article presents the course of COVID-19 in a 17-year-old boy with Friedreich's ataxia-induced hypertrophic cardiomyopathy. Although, the main symptoms of COVID-19 (i.e., fever, cough) were moderate at the beginning of the illness, the patient's condition deteriorated rapidly due to cardiac problems, atrial fibrillation, and heart failure. The patient required antiarrhythmic treatment and pharmacological and electrical cardioversion. Moreover, because of pneumonia requiring supplemental oxygen, remdesivir and convalescent plasma therapy was given to the patient., The administration of the antiviral treatment was crucial to the patient's recovery.

Evaluation of medical and psychological parameters of quality of life in supraventricular tachyarrhythmia children. A comparison with healthy children.

INTRODUCTION: There are only a few available studies evaluating quality of life (QoL) in pediatric patients with cardiac arrhythmia. The aim of the study was to evaluate medical and psychological parameters of the QoL in children with a diagnosed supraventricular tachyarrhythmia (SVT) and to compare the obtained data with a group of healthy children (HC). MATERIAL AND METHODS: Inclusion criteria: children aged 7-18 with SVT, treated at Poznan University of Medical Sciences, Department of Pediatric Cardiology. The evaluation tools were the WHOQOL-BREF instrument and a questionnaire related to the patient's feelings and observations concerning arrhythmia (Pediatric Arrhythmia Related Score - PARS), developed by the authors and adjusted to the group of arrhythmia patients. RESULTS: The study included 180 SVT children and 83 HC. On the basis of WHOQOL-BREF the SVT group was found to have lower assessment values of QoL within the physical domain (Phd) (mean ± SD: 65.7 ±15.8 vs. 81.6 ±12.8; p < 0.0001) and psychological domain (Psd) (mean ± SD: 75.8 ±15.2 vs. 81.3 ±14.1; p < 0.005). No significant differences were found within the social relationships domain or the environment domain. On the basis of PARS in the SVT group the patients reported significantly increased symptoms within Phd (mean ± SD: 2.3 ±0.7 vs. 1.6 ± 0.3; p < 0.0001) as well as increased negative feelings within Psd (mean ± SD: 2.3 ±0.7 vs. 2.1 ± 0.6; p < 0.005). CONCLUSIONS: Medical and psychological parameters of the QoL in SVT children are significantly lower in comparison with HC. A diagnosis of SVT has no influence on the social and environmental areas of QoL. The PARS appears to be a useful tool to supplement the generic questionnaire for QoL evaluation in SVT children.