Congenital heart disease (CHD), a severe cardiac defect in children, has unclear influences on young patients. We aimed to find the impacts of differently structure heart defects and various treatments on psychology and health-related quality of life (HRQoL) in CHD children and adolescents. CHD patients aged between 6 and 18 years old visited our hospital from 1 May 2018 to 31 September 2018, and their principal caregivers were asked to participate. We used two validated questionnaires, Children Depression Inventory-TW (CDI-TW) and Child Health Questionnaire—Parent Form 50 (CHQ-PF 50), to evaluate CHD patients’ psychological and HRQoL conditions. Participants were grouped based on their cardiac defects and previous treatments. We analyzed the results via summary independent-samples t-test with post hoc Bonferroni correction and multivariant analysis. Two hundred and seventy-seven children and their principal caregivers were involved. There was no apparent depressive condition in any group. Single cardiac defect patients exhibited similar HRQoL to controls; simultaneously, those with cyanotic heart disease (CyHD), most multiple/complex CHDs children and adolescents, and those who received invasive treatments had poorer HRQoL. CyHD impacted the most on patients’ psychological and HRQoL status. Patients with sole cardiac defect could live near-normal lifes; on the other hand, CyHD had the worst effects on patients’ psychology and HRQoL.

Aims: Enhancing life satisfaction is vital for adults with congenital heart disease (ACHD). Life satisfaction potentially correlates with a health-promoting lifestyle and grit. However, the mediating role of grit—a trait marked by perseverance and long-term goal-oriented passion—between a health-promoting lifestyle and life satisfaction in ACHD remains unverified. This study aimed to examine the relationships between health-promoting lifestyle, grit, and life satisfaction in full-time employed ACHD and to confirm the mediating role of grit. Methods and results: A total of 181 full-time employed ACHD aged 20–59 years with patient-reported New York Heart Association classes I–IV were recruited from two medical centres in northern Taiwan. Participants completed questionnaires, including the short version of the Chinese Health-Promoting Lifestyle Profile Scale, Grit-10 Scale, and Satisfaction with Life Scale between February and December 2022. Data analysis employed the Hayes PROCESS macro. Health-promoting lifestyle, grit, and life satisfaction were discovered to be positively correlated. Overall grit score was a partial mediator between a health-promoting lifestyle and life satisfaction, accounting for 20% of the total variation. Of the grit domains, perseverance served as a partial mediator between a health-promoting lifestyle and life satisfaction, accounting for 32% of the total variation, whereas passion had a nonsignificant mediation effect. Conclusion: A health-promoting lifestyle boosts ACHD individuals’ life satisfaction through grit, particularly perseverance. Integrating grit into such a lifestyle could benefit from comprehending support systems and influential factors aiding grit development for enhanced life satisfaction.

Kawasaki disease (KD) is an acute systemic vasculitis of unknown cause that mainly affects infants and children and can result in coronary artery complications if left untreated. A small subset of KD patients with fever and cervical lymphadenitis has been reported as node-first-presenting KD (NFKD). This type of KD commonly affects the older pediatric population with a more intense inflammatory process. Considering its unusual initial presentation, a delay in diagnosis and treatment increases the risk of coronary artery complications. Herein, we report the case of a 9-year-old female with fever and neck mass that rapidly deteriorated to shock status. A diagnosis of KD was made after the signs and symptoms fulfilled the principal diagnostic criteria. The patient’s heart failure and blood pressure improved dramatically after a single dose of intravenous immunoglobulin. This case reminds us that NFKD could be the initial manifestation of KDSS, which is a potentially fatal condition. We review the literature to identify the overlapping characteristics of NFKD and KDSS, and to highlight the importance of early recognition of atypical KD regardless of age. We conclude that unusually high C-reactive protein, neutrophilia, and thrombocytopenia serve as supplemental laboratory indicators for early identification of KDSS in patients with NFKD.

To differentiate severe congenital neutropenia (SCN) from autoimmune neutropenia (AIN) in patients with persistent neutropenia ≤1000/mm(3) over three months, we evaluated anti-neutrophil auto-antibodies, candidate genes of ELANA, HAX1 and GCSFR, and neutrophil elastase (NE) activity in 38 patients (21 females; average onset age 14.12 ± 2.49 months) in a primary immunodeficiency disease center between 2004 and 2011. In 30 patients, detectable anti-neutrophil auto-antibodies were HNA1a in 16 patients, HNA1c in 15, MHC Class I in 14, HNA1b in eight, MHC Class II in five, and HNA2a in three. Their average neutropenia duration was 27.04 ± 2.08 months. Of eight patients without detectable auto-antibodies, three had ELANE mutations [Ser126Pro, Arg170Phe and Cys223stop] and recurrent muco-cutaneous infections and sepsis. The patient with nonsense ELANE mutation [Cys223stop] had the lowest NE activity (16.8). Thus, patients with ELANE mutations have undetectable antibodies and more severe and younger-onset muco-cutaneous infections, prolonged healing and decreased serum NE activity that require prompt intervention.