Pediatric acute heart failure caused by endocardial fibroelastosis mimicking dilated cardiomyopathy:A case report

BACKGROUND Endocardial fibroelastosis(EFE)is a diffuse endocardial collagen and elastin hyperplasia disease of unknown etiology,which may be accompanied by myocardial degenerative changes leading to acute or chronic heart failure.However,acute heart failure(AHF)without obvious associated triggers is rare.Prior to the report of endomyocardial biopsy,the diagnosis and treatment of EFE are highly susceptible to being confounded with other primary cardiomyopathies.Here,we report a case of pediatric AHF caused by EFE mimicking dilated cardiomyopathy(DCM),with the aim of providing a valuable reference for clinicians to early identify and diagnose EFE-induced AHF.CASE SUMMARY A 13-mo-old female child was admitted to hospital with retching.Chest X-ray demonstrated enhanced texture in both lungs and an enlarged heart shadow.Color doppler echocardiography showed an enlarged left heart with ventricular wall hypokinesis and decreased left heart function.Abdominal color ultrasonography revealed a markedly enlarged liver.Pending the result of the endomyocardial biopsy report,the child was treated with a variety of resuscitative measures including nasal cannula for oxygen,intramuscular sedation with chlorpromazine and promethazine,cedilanid for cardiac contractility enhancement,and diuretic treatment with furosemide.Subsequently,the child’s endomyocardial biopsy report result was confirmed as EFE.After the above early interventions,the child’s condition gradually stabilized and improved.One week later,the child was discharged.During a 9-mo follow-up period,the child took intermittent low-dose oral digoxin with no signs of recurrence or exacerbation of the heart failure.CONCLUSION Our report suggests that EFE-induced pediatric AHF may present in children over 1 year of age without any apparent precipitants,and that the associated clinical presentations are grossly similar to that of pediatric DCM.Nonetheless,it is still possible to be diagnosed effectively on the basis of the comprehensive analysis of auxiliary inspection findings before the result of the endomyocardial biopsy is reported.

“There Are Many Cases That You Carry with You That Leave Scars”: Burnout and Secondary Trauma among Pediatric Residents in Routine and Covid Times

The current research joins previous studies in examining post-traumatic stress disorder (PTSD) and burnout among healthcare workers. The research focuses on the experiences of pediatric residents working in an emergency department both in normal times and during the Covid pandemic. Research conducted prior to and during the Covid pandemic outbreak shows negative psychological effects among healthcare workers. Most of that research was conducted within the positivistic-quantitative paradigm. The current study is qualitative and focuses on pediatric residents who provide medical services to a unique population in a peripheral region of Israel, namely the Bedouin-Arab population. The research questions are the following: What characterizes pediatric residents’ work, in general and during the pandemic? Do they show signs of burnout and secondary trauma? How do they perceive their work with the Bedouin-Arab population, especially during the pandemic? The study, conducted within the phenomenological genre, included 14 pediatric residents in a large hospital in Israel’s periphery. Semi-structured clinical interviews were employed, in addition to questionnaires that examined PTSD and burnout to enhance the reliability of the findings. The results show that all residents reported stressful incidents in which patients’ physical integrity was threatened. The residents described the special nature of the medical cases they treated in routine times and during the pandemic outbreak, which stems mostly from the specific characteristics the population of Israel’s periphery. While at the early stages of the pandemic, the residents experienced reduced work pressure, they reported substantial difficulties later in the crisis, which intensified their sense of physical and emotional stress. Most residents reported feeling inadequately prepared for dealing with traumatic events. According to the results, most residents displayed secondary trauma (12 participants in interviews and 11 in questionnaires), which can be classified into categories based on the DSM-5. In the interviews, all 14 participants reported various signs of burnout. The questionnaires indicated burnout symptoms among 10 participants. Giving a voice to pediatric residents, the study highlights the complexity of their routine work as well as their role during the Covid crisis. Based on the findings, recommendations have been made for policymakers. The study highlights the importance of raising awareness to the implications of the residents’ rough work conditions in routine and emergency times and to the need to develop social support and intervention programs that might improve their well-being during their professional work.

Hemodynamic Profiling Using a Cardiac Index–Systemic Vascular Resistance Plot in Patients with Fontan Circulation

Background: Elevated Fontan pressure (FP) alone cannot fully predict clinical outcomes. We hypothesized thathemodynamic profiling using a cardiac index (CI)-systemic vascular resistance (SVR) plot could characterize clinicalfeatures and predict the prognosis of post-Fontan patients. Methods: We included post-Fontan patients whounderwent cardiac catheterization at age < 10 years. Patients were classified into four categories: A, CI ≥ 3, SVRindex (SVRI) ≥ 20;B, CI < 3, SVRI ≥ 20;C, CI ≥ 3, SVRI < 20;and D, CI < 3, SVRI < 20. The primary outcome wasfreedom from the combined endpoint: new onset of protein-losing enteropathy or plastic bronchitis, heart transplant,and death. Clinical and hemodynamic variables and freedom from the endpoint were compared betweenthe hemodynamic categories and outcome predictors were evaluated. Results: Eighty-three patients wereincluded. Median follow-up was 5.3 years. Category A/B/C/D consisted of 4/15/53/11 patients, respectively. Allthe patients in category A were New York Heart Association I/II and had a significantly lower pulmonary vascularresistance index (PVRI). Patients in category C had lower pulmonary/systemic blood flow. Patients in category Dhad a higher PVRI and had the poorest freedom from the endpoint (44% at 5 years). Elevated FP and category Dwere outcome predictors. Conclusions: CI-SVR plots was a novel adjunctive method for Fontan hemodynamicprofiling.

Parent’s Perceived Provision of Information Regarding Diagnosis to Children with Brain Tumors

Background: The aim of this study was to clarify the degree of information provision to children with brain tumors, factors influencing this provision, and the relationship between this provision and psychosocial consequences. Methods: A total of 157 parents completed a questionnaire on the degree of information provision to their children and sociodemographic and medical characteristics. Parents and their children completed subscales of the Pediatric Quality of Life Inventory (PedsQL) Cancer Module. Relevant factors were investigated using ordinal logistic regression analysis and compared with PedsQL scores by degree of information provision with adjustment for age. Results: The majority of children aged 2 - 4 years received a low level of information only in regard to medical procedure and preparation. The majority of children aged 5 - 11 years were provided information regarding disease symptoms and treatment, but not actual diagnosis. Approximately half of children aged 12 - 18 years were provided detailed information including their actual diagnosis. Older children generally received more information regarding their disease (odds ratio [OR] = 1.3 per 1 year old, P < 0.001), while children with intellectual disability received less (OR = 0.2, P = 0.006). The provision of information did not worsen scores for Procedural Anxiety, Treatment Anxiety, Worry, or Communication. Conclusions: To our knowledge, this is the first report on the degree of information provision to children with brain tumors. Parents of children with brain tumors in Japan provide information dependent on age and intellectual level. The disclosure of information to children regarding their disease might affect their trust of medical and health care professionals.

Genetic Architecture of Childhood Kidney and Urological Diseases in China

Kidney disease is manifested in a wide variety of phenotypes,many of which have an important hereditary component.To delineate the genotypic and phenotypic spectrum of pediatric nephropathy,a multicenter registration system is being imple-mented based on the Chinese Children Genetic Kidney Disease Database(CCGKDD).In this study,all the patients with kidney and urological diseases were recruited from 2014 to 2020.Genetic analysis was conducted using exome sequencing for families with multiple affected individuals with nephropathy or clinical suspicion of a genetic kidney disease owing to early-onset or extrarenal features.The genetic diagnosis was confirmed in 883 of 2256(39.1%)patients from 23 provinces in China.Phenotypic profiles showed that the primary diagnosis included steroid-resistant nephrotic syndrome(SRNS,23.5%),glomerulonephritis(GN,32.2%),congenital anomalies of the kidney and urinary tract(CAKUT,21.2%),cystic renal disease(3.9%),renal calcinosis/stone(3.6%),tubulopathy(9.7%),and chronic kidney disease of unknown etiology(CKDu,5.8%).The pathogenic variants of 105 monogenetic disorders were identified.Ten distinct genomic disorders were identified as pathogenic copy number variants(CNVs)in 11 patients.The diagnostic yield differed by subgroups,and was highest in those with cystic renal disease(66.3%),followed by tubulopathy(58.4%),GN(57.7%),CKDu(43.5%),SRNS(29.2%),renal calcinosis/stone(29.3%)and CAKUT(8.6%).Reverse phenotyping permitted correct identification in 40 cases with clinical reassessment and unexpected genetic conditions.We present the results of the largest cohort of children with kidney disease in China where diagnostic exome sequencing was performed.Our data demonstrate the utility of family-based exome sequencing,and indicate that the combined analysis of genotype and phenotype based on the national patient registry is pivotal to the genetic diagnosis of kidney disease.