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Background Studies on Multisystem Inflammatory Syndrome in Children (MIS-C) and Kawasaki Disease (KD) have yielded inconsistent results and are lacking in Asian and African countries. This study aimed to compare the laboratory and clinical features, short-term outcomes, and one-year follow-ups of a large cohort of MIS-C and KD patients. Methods Data from 176 MIS-C and 56 KD patients admitted to Tehran Children's Medical Center between January 2021 and January 2022 were collected. Patients were followed up until January 2023. Results While lymphopenia and thrombocytopenia were more prevalent in MIS-C (73.2% vs. 20% in KD, p  < 0.001), KD patients exhibited a higher median white blood cell count and prevalence of anemia, along with higher fibrinogen and erythrocyte sedimentation rate levels ( p  < 0.001, p < 0.001, p  = 0.005, p  < 0.001, respectively). MIS-C patients also exhibited lower ejection fraction, a greater occurrence of pericardial effusion, and a higher incidence of coronary aneurysms and ectasia, and ascites. Echocardiography after seven days of treatment showed a reduction in pathologies for both groups, but it was significant only for MIS-C. After one year, coronary artery abnormalities remained in only six cases. Conclusions In conclusion, this study highlights differences between MIS-C and KD, including laboratory indices as well as echocardiographic and abdominal ultrasound findings. These findings contribute valuable data on Iranian patients to the existing literature on this topic and have significant implications for accurate diagnosis and improved management of pediatric patients presenting with these conditions.

Background and Aims Acute kidney injury (AKI) is a common complication in pediatric cardiac intensive care unit (CICU). This study aims to identify the prevalence, risk factors, and outcomes of AKI in pediatrics admitted to a CICU unit of a tertiary hospital. Methods We retrospectively gathered the data of 253 randomly selected patients admitted to the CICU unit from March 2018 to March 2022. Data were collected from EHRs. We used the Kidney Disease Improving Global Outcomes (KDIGO) criteria for identifying AKI in patients. Results Overall, AKI prevalence was 22.9% in our population. In the multivariable analysis, vancomycin intake (odds ratio [OR]: 2.109, 95% confidence interval [CI]: 1.15–3.84), angiography (OR: 4.38, 95% CI: 1.28–14.93), and mechanical ventilation (OR: 2.08, 95% CI: 1.02–4.23) were independent risk factors of AKI development and patients with AKI had a higher in‐hospital mortality rate (OR: 5.81, 95% CI: 2.55–13.19), higher need for cardiopulmonary resuscitation (OR: 3.08, 95% CI: 1.17–8.09), and longer ICU length of stay (OR: 6.49, 95% CI: 3.31–9.67). Furthermore, furosemide administration was associated with lower risk of developing AKI (OR: 0.52, 95% CI: 0.27–0.97). Conclusion AKI is common and is associated with worse outcomes in patients with congenital heart disease. Our results emphasize the importance of early identification and monitoring of AKI in the pediatric CICU setting.

Mulibrey Nanism is a rare multisystem disorder inherited in an autosomal recessive manner caused by mutations in the TRIM37 gene. Most of the reported cases are from Finland, but this condition has rarely occurred in other countries. Although the clinical diagnosis of Mulibrey nanism is a challenge during the first months of life, the disease can be suspected clinically due to the distinctive features of the patients.  A 4-year-old female with pneumonia, cardiomyopathy, growth retardation, peripheral edema, and characteristic craniofacial features was referred to Tehran Hope Generation Foundation Genetic diagnosis Center, in October 2021. Genomic DNA was isolated from peripheral blood samples of the patient and her parents and Whole exome sequencing was performed for the patient. Whole exome sequencing revealed a homozygous G>A splice site variant (TRIM37; c.370-1G>A). Sanger sequencing confirmed the segregation of the variant with phenotype in this family. Whole exome sequencing can be helpful in the diagnosis of the patients suspecting to Mulibrey nanism and lacking sufficient clinical presentation according to the diagnostic algorithm.

Background: Patients with congenital heart disease (CHD) are susceptible to mild malnutrition up to failure to thrive. The prevalence of malnutrition among patients with CHD is higher in developing countries. Many factors are considered to affect the nutritional status such as cyanosis. Objectives: This study aims to assess the prevalence and severity of malnutrition in patients with CHD prior to the surgical corrective or palliative repair. Methods: This study was performed by reviewing inpatient medical records and cardiac surgery databases of children with cyanotic CHD who underwent palliative or corrective surgery between March 2011 and March 2017. Patients’ age and height at the time of surgery, birth weight, duration of intensive care unit (ICU) stay and 30-day mortality were extracted and weight for age z score (WAZ), weight for length z score (WLZ) and length for age z score (LAZ) were calculated. Z scores above -1 were considered as normal, between -1 and -2 as mild, between -2 and -3 as moderate and below -3 as severe malnutrition. Results: In a total number of 639, the average age, weight and height were 16.688 ± 24.859 months, 7.509 ± 5.629 kilograms and 73.759 ± 95.869 centimeters, respectively. The average length of ICU stay was 8.36 ± 6.254 days and the 30-day mortality was 36 (5.7%). The average WAZ, LAZ, WLZ and BMI Z was -1.5 ± 1.69, -0.9 ± 2.38, -1.2 ± 3.97 and -1.4 ± 2.11, respectively. Regarding WAZ, LAZ, WLZ and BMI Z, 62.2%, 46.1%, 72.3% and 70.9% of patients had mild to severe forms of malnutrition, since the rate of malnutrition based on WAZ (P = 0.001), LAZ (P < 0.0001), WLZ (P < 0.0001) and BMI Z (P = 0.007), was significantly higher than normal subjects. Conclusions: The prevalence of mild to severe forms of malnutrition, based on different growth indices, for both cyanotics and acyanotics are higher than those reported in the other previous studies. These findings reflect the fact that cultural, genetic and racial differences of Iranians compared to others, cause malnutrition to be more frequent in Iranian CHD children. This calls for higher requirement of nutritional support for these patients.

Purpose Primary congenital glaucoma (PCG) (OMIM#231,300) can be caused by pathogenic sequence variations in CYP1B1 , LTBP2 , MYOC and PXDN genes. The purpose of this study was to investigate mutations in the CYP1B1 gene in families affected with primary congenital glaucoma (PCG) using linkage analysis and Sanger sequencing. Methods A total number of four families with nine affected PCG patients during six months were included in this study. The mutations were identified by homozygosity mapping to find the linked loci and then direct sequencing of all coding exons, the exon–intron boundaries and the 5' untranslated region of CYP1B1 using genomic DNA obtained from affected family members and their parents. Moreover, bioinformatic tools were applied to study mutation effect on protein structure and function. Results A total of four mutations were identified, and three of these were novel. Two were missense mutations: One was truncating mutation, and the other was an in-frame deletion. Mutations in CYP1B1 could fully explain the PCG phenotype in all of the patients. Also, the bioinformatic study of the mutations showed the structure of the protein is affected, and it is well conserved among similar species. Conclusion In this study, we identified 4 CYP1B1 mutations, 3 of which were novel. In silico analysis of identified mutations confirmed their molecular pathogenicity. A similar analysis will help understand the biological role of CYP1B1 and the effect of mutations on the regulatory and enzymatic functions of CYP1B1 that result in PCG. Clinical trials registration Not relevant

Congenital heart disease CHD is a significant cause of mortality and morbidity in children worldwide. Patients with congenital heart disease may develop hematological problems, including thrombocytopenia and neutropenia. In addition, several studies indicate the higher frailty of patients with CHDs to infections and malignancies. Nevertheless, the mechanisms of immune system changes in these patients have remained in the shadow of uncertainty. Moreover, very few studies have worked on cytopenia in CHD. This study has assessed the frequency of thrombocytopenia, neutropenia, lymphopenia, and anemia in pediatric patients with acyanotic congenital heart disease ACHD prior to open-heart surgery. This cross-sectional study was handled in the Pediatric Cardiology Clinic, Tehran University of Medical Sciences, during pre-operation visits from 2014 till 2019. Two hundred forty-eight children and adolescents with acyanotic congenital heart disease before open-heart surgery met the criteria to enter the study. A total of 191 (76.7%) patients with Ventricular Septal Defects (VSD), 37 (14.85%) patients with Atrial Septal Defects (ASD), and 20 (8.11%) patients with Patent Ductus Arteriosus (PDA) were enrolled in this study. The median age was 23.87 months. Thrombocytopenia and neutropenia were found, respectively, in 3 (1.2) and 23 (9.2%) patients. Hemoglobin level and lymphocyte count were significantly lower in patients with neutropenia than patients with normal neutrophil count (P value = 0.024 and P value = 0.000). Significant positive correlations were found between neutropenia and anemia. There were no correlations between neutrophil count and Platelets. Also, anemia was found in 48 patients (19.3%). The study also found a statistically significant correlation between the co-existence of VSD and neutropenia in the patients (P value = 0.000). Although most were mildly neutropenic, there was a significant correlation between neutropenia and Ventricular Septal Defect compared to PDA and ASD groups. Regarding the importance of neutropenia to affect the prognosis of congenital heart defects in infections, it is important to consider further studies on the status of immune system function in these patients.

A 13-year-old girl, as a known case of type III Gaucher disease, was referred to us for a cardiac assessment. Our investigations revealed wall thickening and calcification in the ascending thoracic aorta, transverse arch, and isthmus. Calcification was also present in the proximal portion of the brachiocephalic trunk while the osteal narrowing of right common carotid was also notable. The other finding included isolated thrombocytopenia. We decided to perform surgery after two months of enzyme replacement therapy.

Objectives: To evaluate fetal cardiac changes in gestational diabetic mothers, compared to healthy ones by means of different indices and to determine which index can first represent the alterations. Methods: The study was conducted as an observational cross-sectional study, including 25 pregnant women with gestational diabetes as the cases and 50 healthy pregnant women as the controls. The preload index, left and right side myocardial performance index (MPI), Interventricular septal hypertrophy, the left and right side cardiac output were assessed in all the patients. Results: The gestational ages were 31.65 ± 8.02 and 31.64 ± 5.37 weeks in case and control group respectively, without any significant difference. Both of the left and right ventricular MPI did not differ statistically between the case and controls. The cases had a greater Interventricular septal hypertrophy but the cardiac output was similar. The preload index was higher in the fetuses of the gestational diabetic mothers. Conclusions: In our study, the MPI did not show any difference between the fetuses of the gestational diabetic mothers and non-diabetic ones; but, fetuses of gestational diabetic mothers had a greater value of PLI, representing early diastolic function changes in right heart even before the overt heart failure occurred. This could be a sign of vasculopathy in gestational diabetic mothers.

Pulmonary artery‐focused agitated saline contrast echocardiography unveils tricky cases of ALCAPA by the entry of microbubbles into the left coronary artery (LCA) during systole and retrograde flow from LCA into the main pulmonary artery during diastole. Associated pulmonary hypertension, if present, augments the former flow and supplemental oxygen increases the latter. Pulmonary artery‐focused agitated saline contrast echocardiography unveils tricky cases of ALCAPA by the entry of microbubbles into the left coronary artery (LCA) during systole and retrograde flow from LCA into the main pulmonary artery during diastole. Associated pulmonary hypertension, if present, augments the former flow and supplemental oxygen increases the latter.