Cardiac Function in Pediatric Patients with MIS-C Using Speckle Tracking and Conventional Echocardiography: A Longitudinal, Single-Center Study.

Cardiovascular involvement in Multisystem Inflammatory Syndrome in Children (MIS-C), a potential consequence of coronavirus disease-2019 (COVID-19), is common. Conventional transthoracic echocardiography (TTE) provides primary data on the function of the left and right ventricles, while Speckle Tracking Echocardiography (STE) is more sensitive. This study aims to assess longitudinal cardiac function using STE in these patients. This longitudinal study was conducted from late 2021 to early 2022 at Imam Hossein Children's Hospital, Isfahan. Cardiac function was assessed by STE at the time of diagnosis and again two months later. Demographics, clinical characteristics, ECG interpretations, imaging studies, and serum cardiac marker levels were collected. Thirty-five pediatric patients with a mean age of 5.1 years (range: 4 months to 17 years) were included and prospectively followed. Twenty-nine of them, comprising 14 males (48.3%) and 15 females (51.7%), underwent STE and were compared with 29 healthy age- and sex-matched children. Factors related to adverse events included reduced myocardial function, enlarged left atrium or ventricle, and mitral regurgitation (MR). Patients with comorbidities affecting strain measurements were excluded from the strain analyses. A significant difference was observed between the groups in regional strains in the basal and apical septal and middle lateral regions. Global strain rate (GLS) and strain rates were not significantly different but were still lower than the control group. Twenty percent of patients had abnormal GLS but normal left ventricular ejection fraction (LVEF). All patients exhibited reduced segmental myocardial strain in at least one segment. Four out of 26 recovered patients without comorbidities had abnormal GLS at follow-up, despite normal LVEF. STE proves more useful than conventional echocardiography in patients with MIS-C, revealing subclinical cardiac injury in the acute and post-acute phases.

Follow-up outcomes and effectiveness of stent implantation for aortic coarctation: A systematic review and meta-analysis.

BACKGROUND: The authors aim to investigate the clinical implications of stent use for the management of CoA. METHODS: All observational studies on stent implantation for the treatment of aortic coarctation and the relevant RCTs were systematically retrieved. Outcomes included the immediate success rate, pre- and post-stent gradient, survival, minor and major complications, restenosis, post-stent systolic blood pressure, and reintervention rate. The analysis was further stratified by CoA type, stent type, and the mean age of the patients. RESULTS: Our meta-analysis incorporated 66 eligible studies involving 3,880 patients. The success rates for stent placement, defined as achieving post-treatment gradients of ≤20 mmHg and 10 mmHg, 0.96 (95% CI: 0.95 - 0.97; I2 = 59.83%) and 0.92 (95% CI: 0.89 - 0.95, I2 = 77.63%) respectively. The complication rates were quite low, with minor and major complication rates of 0.017 (95% CI: 0.013 - 0.021) and 0.007 (95% CI: 0.005 - 0.009), respectively. Unplanned reinterventions were required at a rate of 0.021 (95% CI: 0.015 - 0.026). At a mean follow-up of 2.9 years, 97% of the patients survived and 28% remained on antihypertensive therapy. While immediate effectiveness was consistent across age groups, complications were more prevalent in patients aged <20 years, and long-term efficacy was lower in those aged >20 years. Encouragingly, in neonates and infants, CoA stenting yielded results comparable to those observed in older children. CONCLUSION: These findings underscore the overall favorable outcomes of stent placement for aortic coarctation, with considerations for age-related variations in complications and long-term efficacy.

Effect of face mask on pulmonary artery pressure during echocardiography in children and adolescents.

BACKGROUND: Face masks have become an important tool for preventing the spread of respiratory diseases. However, we hypothesized that face masks with reduced nasal airflow may alter pulmonary artery systolic pressure (PASP). PURPOSE: This study aimed to evaluate the effect of face masks on PASP in children and adolescents. METHODS: This case-control study was conducted between March 2021 and April 2022 at the Pediatric Cardiovascular Research Center in Isfahan, Iran. Using a convenience sampling method, a total of 120 children and adolescents, boys and girls aged 3-18 years, were allocated into 2 groups of 60 each (case group with congenital heart disease (CHD), control group of healthy subjects). For each patient in the case and control groups, echocardiography (ECHO), heart rate (HR), and blood oxygen saturation (SpO2) were performed and measured twice-once with a surgical mask and once without a surgical mask-by a pediatric cardiologist at 10-min intervals. RESULTS: A total of 110 participants were analyzed. The mean patient age was 9.58±3.40 years versus 10.20±4.15 years in the case (n=50) and control (n=60) groups, respectively. Approximately 76.0% (n=38) of the participants in the case group versus 60.0% of those in the control group were male. In the case and control groups, there was a statistically significant reduction in the mean changes in tricuspid regurgitation (P=0.001), pulmonary regurgitation (P=0.002), and PASP (P=0.001) after face mask removal. Although this study showed a reduction in pulmonary arterial pressure after face mask removal in patients with CHD and healthy subjects, no significant changes in HR (P=0.535) or SpO2 (P=0.741) were observed in either group. CONCLUSION: Wearing a face mask increased PASP in healthy children and adolescents with CHD; however, the SPO2 and HR remained unchanged. Therefore, mask removal during ECHO is recommended.

Assessment of Vascular Indices by Abdominal Aortic Ultrasonography in Preterm Neonates with Bronchopulmonary Dysplasia.

Preterm infants with bronchopulmonary dysplasia (BPD) frequently encounter systemic hypertension, yet the underlying cause remains elusive. Given the absence of prior investigations concerning the correlation between systemic hypertension and aortic thickness, we undertook this study to assess and juxtapose diverse vascular indices amidst preterm neonates with BPD, preterm neonates lacking BPD, and healthy neonates, utilizing abdominal aorta ultrasonography. This cross-sectional study encompassed 20 preterm neonates, 20 preterm neonates with BPD, and 20 healthy neonates, meticulously matched for sex and postnatal age. Comprehensive demographic, anthropometric, and clinical evaluation data were documented. The neonates underwent abdominal aortic ultrasonography for comparative evaluation of aortic wall thickness and vasomotor function across the three groups. The study revealed that neonates with BPD exhibited a notably higher average systolic blood pressure than preterm and term neonates (P < 0.05). Conversely, echocardiographic parameters such as input impedance, and arterial wall stiffness index displayed no substantial variance among the three groups (P > 0.05). The mean (SD) aortic intima-media thickness (aIMT) for preterm neonates with BPD, preterm neonates, and term neonates were 814 (193.59) µm, 497.50 (172.19) µm, and 574.00 (113.20) µm, correspondingly (P < 0.05). Furthermore, the mean (SD) pulsatile diameter for preterm neonates with BPD, preterm neonates, and term neonates were 1.52 (0.81) mm, 0.91 (0.55) mm, and 1.34 (0.51) mm, respectively (P < 0.05). Following adjustment for birth weight, sex, and gestational age at birth, the study identified a noteworthy correlation between aIMT and BPD. The investigation concluded that the mean aortic intima-media thickness (aIMT) was significantly elevated in preterm neonates with BPD, signifying a potential early indicator of atherosclerosis and predisposition to future heightened blood pressure and cardiovascular ailments. Consequently, the study postulates that aIMT could be a consistent and well-tolerated marker for identifying BPD patients at risk of developing these health complications.

Childhood Obesity Is Associated With Subclinical Left Ventricular Dysfunction Detected by Speckle Tracking Echocardiography.

Childhood obesity is related to cardiac structural and functional changes, increasing the risk of heart disease. Sixty normotensive children were assigned based on body mass index (BMI) into normal weight, overweight, and obese groups and examined by two-dimensional speckle tracking echocardiography (2D-STE). Weight (P = .001) and BMI (P = .001) differed significantly among the 3 groups. Left ventricular (LV) strain (P = .001) and strain rate (P = .002) in overweight and obese children (P = .001) were significantly lower compared to normal weight group. LV mass in obese children was notably larger compared to overweight children (P = .047). LV strain was associated with age (P = .031), weight (P = .001), and height (P = .022). There was an association between LV strain rate with weight (P = .001) and between left atrial area and height of children (P = .007). Obesity in normotensive obese children is associated with subclinical alteration of LV dimension and myocardial longitudinal strain recognized by 2D-STE.

Identifying the Factors Affecting the Incidence of Congenital Heart Disease Using Support Vector Machine and Particle Swarm Optimization.

Background: Congenital malformations are defined as "any defect in the structure of a person that exists from birth". Among them, congenital heart malformations have the highest prevalence in the world. This study focuses on the development of a predictive model for congenital heart disease in Isfahan using support vector machine (SVM) and particle swarm intelligence. Materials and Methods: It consists of four parts: data collection, preprocessing, identify target features, and technique. The proposed technique is a combination of the SVM method and particle swarm optimization (PSO). Results: The data set includes 1389 patients and 399 features. The best performance in terms of accuracy, with 81.57%, is related to the PSO-SVM technique and the worst performance, with 78.62%, is related to the random forest technique. Congenital extra cardiac anomalies are considered as the most important factor with averages of 0.655. Conclusion: Congenital extra cardiac anomalies are considered as the most important factor. Detecting more important feature affecting congenital heart disease allows physicians to treat the variable risk factors associated with congenital heart disease progression. The use of a machine learning approach provides the ability to predict the presence of congenital heart disease with high accuracy and sensitivity.

Comparison of CIMT and FMD in the Brachial Artery between Children with Acyanotic Congenital Heart Disease and Healthy Controls: A Case-Control Study.

Background: Congenital heart disease (CHD), a developmental abnormality of the heart and vessels, is encountered in the pediatric age group frequently. Brachial artery flow-mediated dilation (FMD) and carotid intima-media thickness (CIMT) are indicators of subclinical cardiovascular disease and are used as surrogate measures of subclinical atherosclerosis. The present study aimed to compare CIMT and FMD between children with acyanotic congenital heart disease (ACHD) and healthy controls. Methods: A case-control study on 50 children with ACHD and 43 healthy individuals was done in Isfahan, Iran, between 2021 and 2022. The case group was selected via non-random sampling, and healthy controls were recruited from the relatives of the patients. A checklist, including age, sex, body mass index, and blood pressure, was filled out for all the participants. Then, FMD and CIMT were measured with brachial and carotid artery ultrasonography. Results: Fifty children with ACHD and 43 healthy individuals (controls) under 18 years old participated in this study. Of these, 44 (47.3%) were girls and 49 (52.7%) were boys. The mean FMD was significantly higher in the ACHD group than in the control group (0.084±0.027 vs 0.076±0.042; P=0.021; 95% CI, 007 to 0.122;). CIMT was significantly higher in the ACHD group than in the control group (0.39±0.12 vs 0.34±0.1; P=0.037; 95% CI, 0.009 to 0.102;). However, systolic and diastolic blood pressure did not show differences between the groups. Conclusion: Based on our results, CIMT and FMD assessment may help detect early changes in peripheral vessels associated with atherosclerosis in the future in ACHD. Further studies are needed to confirm our findings.

Wolff-Parkinson-White Syndrome and Peripartum Cardiomyopathy.

Wolff-Parkinson-White (WPW) is a rare congenital arrhythmia that could result in peripartum cardiomyopathy. This condition could be managed by medical treatments or ablation treatments. In this report, we presented a 14-year-old pregnant girl with initial signs of syncope and palpitation, who was later diagnosed with WPW-induced peripartum cardiomyopathy. The baby was successfully delivered at 32 weeks gestational age, and the patient received a beta-blocker as the main treatment strategy. We recommend that a proper cardiology and gynecology care is critical in providing the best prognosis.

A 14.5-Year-Old Boy with Coronary Obstruction after Kawasaki Disease: A Case Report.

Kawasaki disease (KD) is a febrile vasculitis and is considered a leading cause of acquired coronary artery disease in children. A clinically critical complication is the coronary artery aneurysm, which may progress and lead to coronary stenosis or even obstruction. Herein, we describe a 14.5-year-old boy with a history of KD at 6 months old, who developed multiple aneurysms along all the coronary branches. During the follow-up at the age of 14 years, the left coronary artery aneurysms regressed, while the aneurysm of the right coronary artery persisted and was complicated by obstruction at its proximal part, according to computed tomography angiography. However, the patient at the last follow-up was asymptomatic and well. The serious nature of KD coronary complications warrants follow-up visits. Since echocardiography alone may fail to reveal stenosis or obstruction, other adjunct follow-up imaging modalities such as conventional, computed tomography, and magnetic resonance angiography should be performed in patients with coronary aneurysms.

Factors associated with preventive behaviors of COVID-19 among children with congenital heart disease: Application of protection motivation theory.

BACKGROUND: Congenital heart disease (CHD) is one of the underlying medical conditions that put children at increased risk for coronavirus. This study aimed to predict preventive behaviors of COVID-19 among children with CHD based on the protection motivation theory (PMT). MATERIALS AND METHODS: This cross-sectional study was conducted from March 2021 to April 2021, on 240 children 3-7 years with CHD whose data had been registered in Persian Registry of Cardiovascular Disease/CHD (PROVE/CHD) System in Isfahan, Iran. The research variables were measured using an online researcher-made questionnaire that was based on PMT constructs. The collected data were analyzed using statistical tests (e.g., Pearson correlation coefficient and linear regression analysis). RESULTS: From a total of 240 participants (mean age of 4.81 ± 1.50) in the present study, 122 (50.8%) were girls. The most common types of CHD among children participating in this study were related to atrial septal defect (ASD) (29.2%, n = 70) and ventricular septal defect (VSD) (26.7%, n = 64), respectively. Protective behaviors showed a significant correlation with all constructs of PMT. The PMT constructs explained 41.0% of the variances in protective behavior, in which the perceived reward (ß = 0.325) and perceived self-efficacy (ß = 0.192) was the most important, respectively. CONCLUSION: The results of this study showed well the effectiveness of PMT on the preventive behaviors of COVID-19 in children with CHD. This theory can be used to teach preventive behaviors of COVID-19 to children with CHD in education programs.

Biventricular strain and strain rate impairment shortly after surgical repair of tetralogy of Fallot in children: A case-control study.

Background: Early biventricular dysfunction in repaired tetralogy of Fallot (TOF) children may lead to poor clinical outcomes. We aimed to assess biventricular function in TOF children before and after surgery by speckle tracking echocardiography (STE) and compare them with the controls. Methods: Twenty repaired TOF children and 20 normal children as controls were assessed by STE. Tricuspid annular plane systolic excursion (TAPSE), left ventricular ejection fraction (LVEF), biventricular strain, and strain rate were compared before and after surgery and between TOF children and controls. Results: Postoperative LVEF (p = 0.001), strain (p = 0.001), and strain rate (p = 0.001) for left ventricle improved significantly compared to preoperative phase. However, postoperative left ventricular strain (p = 0.05) and strain rate (p = 0.01) in TOF children were significantly impaired compared to controls. Postoperative LVEF was correlated inversely with postoperative strain rate (r = -0.40, p = 0.04). Postoperative TAPSE (p = 0.001), strain (p = 0.001), and strain rate (p = 0.001) for right ventricle significantly worsened when compared with the preoperative phase. Moreover, postoperative TAPSE (p = 0.001), strain (p = 0.001), and strain rate (p = 0.01) were significantly impaired compared to controls. Postoperative right ventricular strain rate was correlated significantly with the weight of children (r = 0.48, p = 0.02), and postoperative left ventricular strain showed significant correlations with aortic clamp time (r = 0.44, p = 0.04) and with ICU stay (r = -0.46, p = 0.04). Conclusion: Despite normal LVEF, TOF children exhibit impaired left ventricular strain and strain rate after surgery. TAPSE, strain, and strain rate for the right ventricle worsen after surgical repair. STE-driven strain can be used to detect early ventricular dysfunction and the associated prognostic implications.

The associations of low birth weight with primary hypertension in later life: A systematic review and meta-analysis.

BACKGROUND: The purpose of this study was to evaluate of the study the role of LBW on EH in children and by studying the existing published literature. MATERIALS AND METHODS: A comprehensive literature search for original studies was conducted in Clarivate Analytics Web of Science, PubMed, Scopus, and Embase until July 2019. The search used all of the main keywords and its synonyms include essential hypertension, primary hypertension, essential arterial hypertension, idiopathic hypertension, spontaneous hypertension; child, childhood, children, pediatric, pediatrics, infant, infancy, newborn, neonatal, adolescence, teenagers; and BW, newborn weight, neonatal weight, BW. RESULTS: Twelve articles were eligible for the final evaluation. Due to the difference among studies in the report, studies were divided into two-part. The first part, articles were reported in the LBW and NBW groups (interested outcome were SBP and DBP), and the second part was composed as the EH and NR groups (interested outcome were LBW and NBW). In the first part, SMD for SBP was -1.09 with 95% CI (-1.91,-0.26), and was statistically significant (Z=2.58, P=0.010). As well, SMD for DBP was -0.68 with 95% CI (-1.32,-0.05) statistically significant (Z=2.10, P=0.036). In the second part, SMD for SBP was 0.77 with 95% CI (-0.85, 2.39), and was statistically significant (Z=0.93, P=0.352). Subgroup analysis was performed on the pre-term and full- term babies. SMD for SBP was -0.08 with 95% CI (-0.51, 0.35) in the pre-term, and the full-term was -2.07 with 95% CI (-3.47, -0.67). As well, SMD for DBP was -0.02 with 95% CI (-0.20, 0.17) in the preterm, and the term was -1.35 with 95% CI (-1.57, -1.13). CONCLUSION: Although findings of the correlation between BW and EHTN have conflicted. To our knowledge, this is the first report that attempts to a conclusion.

Case Report: Acute Intracardiac Thrombosis in Children With Coronavirus Disease 2019 (COVID-19).

We herein describe a case series of children with SARS-CoV-2 infection (COVID-19) complicated with acute intracardiac thrombosis. The diagnosis of COVID-19 was confirmed through the reverse transcription-polymerase chain reaction (RT-PCR). Transthoracic echocardiography of patients revealed large intracardiac mobile masses resected successfully via cardiac surgery. The underlying mechanisms of this thrombus in the COVID-19 infection may be attributed to the hypercoagulation and inflammatory state of the disease incurred by the SARS-CoV-2 virus.

Cardiac complications in inherited mitochondrial diseases.

Maternally mitochondrial dysfunction includes a heterogeneous group of genetic disorders which leads to the impairment of the final common pathway of energy metabolism. Coronary heart disease and coronary venous disease are two important clinical manifestations of mitochondrial dysfunction due to abnormality in the setting of underlying pathways. Mitochondrial dysfunction can lead to cardiomyopathy, which is involved in the onset of acute cardiac and pulmonary failure. Mitochondrial diseases present other cardiac manifestations such as left ventricular noncompaction and cardiac conduction disease. Different clinical findings from mitochondrial dysfunction originate from different mtDNA mutations, and this variety of clinical symptoms poses a diagnostic challenge for cardiologists. Heart transplantation may be a good treatment, but it is not always possible, and other complications of the disease, such as mitochondrial encephalopathy, lactic acidosis, and stroke-like syndrome, should be considered. To diagnose and treat most mitochondrial disorders, careful cardiac, neurological, and molecular studies are needed. In this study, we looked at molecular genetics of MIDs and cardiac manifestations in patients with mitochondrial dysfunction.

Clinical Outcome of Right Ventricular Outflow Tract Stenting Versus Blalock-Taussig Shunt in Tetralogy of Fallot: A systematic Review and Meta-Analysis.

AIM: Several studies assessed the effectiveness of different therapeutic procedures for repairing right ventricular outflow tract (RVOT) in tetralogy of Fallot (TOF) patients reporting contradictory results. What has been systematically summarized in the present study was to assess the outcome of RVOT stenting in TOF patients and also to compare its outcome with Blalock-Taussig (BT) shunt procedure. METHODS AND RESULTS: This study was performed according to established methods and in compliance with Preferred Reporting Items for Systematic review and Meta-Analysis Protocols. Two investigators searched the manuscript databases including Medline, Web of knowledge, Google scholar, Scopus, and Cochrane Central Register of Controlled Trials in the Cochrane Library for all eligible studies in accordance with the considered keywords. In final, 10 articles were eligible for the final analysis. The pooled success rate of RVOT stenting was found to be 93.6% (95% confidence interval [CI]: 89.6% to 96.2%). The overall improvement in arterial oxygen saturation following RVOT stenting was also shown to be 20.1%% (95% CI: 15.8% to 25.3%). The procedural-related death was also 3.7% (95% CI: 1.9% to 7.3%). The assessment of the outcome of RVOT stenting and BT shunt showed no significant difference in improvement rate of arterial O2 saturation (Odds ratio = 1.419, 95% CI: 0.645 to 3.123, P= 0.384) and death rate (risk ratios = 0.341, 95% CI: 0.057 to 2.024, P= 0.236). CONCLUSION: RVOT stenting leads to appropriate clinical outcome in children suffering TOF Comparing RVOT stenting and BT shunt shows comparable results with respect to clinical sequels. Classifications: Right Ventricular Outflow Tract (RVOT), Tetralogy Of Fallot (TOF), BT shunt. CONDENSED ABSTRACT: Aim: Present study was to assess the outcome of right ventricular outflow tract (RVOT) stenting in tetralogy of Fallot (TOF) patients and also to compare its outcome with Blalock-Taussig (BT) shunt procedure. METHODS AND RESULTS: This study was performed according to established methods and in compliance with Preferred Reporting Items for Systematic review and Meta-Analysis Protocols. In final, 10 articles were eligible for the final analysis. The assessment of the outcome of RVOT stenting and BT shunt showed no significant difference in improvement rate of arterial O2 saturation and death rate. CONCLUSION: RVOT stenting leads to appropriate clinical outcome in children suffering TOF Comparing RVOT stenting and BT shunt shows comparable results with respect to clinical sequels.

Right Atrial Thrombus in a COVID-19 Child Treated Through Cardiac Surgery.

We herein report a case of large intracardiac thrombus in a child with SARS-CoV-2 infection (COVID-19). The diagnosis of COVID-19 was confirmed through HRCT and RT-PCR. Transthoracic echocardiography revealed a large thrombus in the right atrium treated successfully via cardiac surgery. The underlying mechanisms of this thrombus in the COVID-19 infection may be attributed to the hypercoagulation and inflammatory condition incurred by the COVID-19 virus.

Early Results of the Persian Registry of Cardiovascular Disease/Congenital Heart Disease (PROVE/CHD) in Isfahan.

Background: In 2016, a prospective registry for pediatric patients with congenital heart disease (CHD) was established in Isfahan, Iran. Data on pediatric CHD in Iran are scant; accordingly, we aimed to report the early results of the Persian Registry Of cardioVascular diseasE (PROVE/CHD) Registry in Isfahan. Methods: All patients with CHD and associated defects diagnosed by pediatric cardiologists were assessed via echocardiography for inclusion in the present study between late 2016 and August 2019. The participants' sociodemographic characteristics, maternal history, birth history, medical history, current clinical presentations in the clinic or hospital, paraclinical data, cardiac diagnoses based on the International Classification of Diseases, 10th Revision (ICD-10), disease management plans, and medications were entered into a questionnaire by the subjects' parents/legal custodians and physicians and then transferred to the PROVE/CHD Registry. Results: The PROVE/CHD registry encompasses 1252 patients with CHD (49.9% male) at a mean age of 6.50±6.36 years. The most frequent cardiac diagnoses were ventricular septal defect (39.3%), atrial septal defect (29.7%), patent ductus arteriosus (25.4%), pulmonary stenosis (11.0%), tetralogy of Fallot (6.1%), coarctation of the aorta (5.4%), and aortic stenosis (5.1%), respectively. The most frequent interventions were patent ductus arteriosus closure (4.3%), atrial septal defect closure (3.6%), pulmonary valvuloplasty (2.2%), coarctation of the aorta angioplasty (1.9%), and ventricular septal defect closure (1.1%), correspondingly. The approximate corresponding rates of corrective and palliative surgeries were 32.0% and 13.1%. The corrective surgeries were mainly comprised of ventricular septal defect closure (7.8%), patent ductus arteriosus closure (7.3%), atrial septal defect closure (5.1%), and tetralogy of Fallot repair (3.8%), respectively. The palliative surgeries mainly consisted of the Glenn shunt (9.0%) and pulmonary artery banding (3.6%). Conclusion: The PROVE/CHD Registry collects data on pediatric patients with CHD. The results of this registry can provide epidemiological data and a set of homogeneously defined cases for further studies.

Determining genetic variants in children and adolescents suffering from tetralogy of Fallot with a positive family history: methodology.

BACKGROUND AND AIM: Congenital heart disease (CHD) affects near 1% of all live births and is considered to be the main reason of morbidity and mortality in early childhood. In this study, we investigated molecular genetics factors associated with Tetralogy of Fallot (TOF) using high throughput technologies in the consanguineous families with at least 2 affected individual. METHOD: This family study started in March 2017 to May 2018 in pediatric cardiovascular research center, Cardiovascular Research Institute, Isfahan, Iran. After obtaining informed consent, we invited families who had at least 2 individuals in one generation or previous generations with familial marriage history and they were included in the study. Genomic DNA was extracted from peripheral blood lymphocytes of the patient and samples were investigated for structural variations such as deletion or duplication in the genome using single nucleotide polymorphism array (SNP array). In the next step, if the SNP array is negative, next generation study will be performed in the propend and after analyzing the raw data and filtering for rare pathogenic variants. RESULTS: In this study, totally 5 families were evaluated. All affected and unaffected individuals of each family included in the pedigree.  This study comprised 14 subjects (9 males and 5 females; 8.92 ± 6.21 years old). Baseline characteristics and clinical data of the study subjects are presented in Table 1. The prevalence of consanguineous marriage is 92.2% among parents, 71.4% among mother grandparents and 28.6% among father grandparents. 64.3 % of our participants have sibling with similar disease. The prevalence of atrial septal defect (ASD), ventricular septal defect (VSD), and arrhythmia and TOF was 7.1%. CONCLUSION: We found some families with 2 or more CHD and with a high rate of consanguineous marriage and probably suffering from a genetic predisposition. We aim to exam them further with next generation study (NGS) to find any genetic defect and then to exam other CHD's in our region. Key words: gene mutations, children, adolescents, tetralogy of Fallot, family history.

The commencement of congenital heart diseases registry in Isfahan, Iran: Methodology and design.

BACKGROUND: Reported prevalence of congenital heart diseases (CHDs) varies widely among studies worldwide. The incidence of CHD, total number of pediatric and adult grown-up congenital heart disease (GUCH), is not determined in Iran. Therefore, we have designed a system to register the information of patients with CHD for the first time in our country. METHODS: CHD registry is a database in which the patients' data are collected by five pediatric cardiologists from three referral hospitals affiliated to Isfahan University of Medical Sciences, Isfahan, Iran, and five outpatient clinics. We enrolled patients with CHD either as new cases who were referred for evaluation of potential CHD or those who were being followed within the outpatient clinics and entered their whole information in a website specifically designed for it. All the information was collected from checklist by those pediatric cardiologists. RESULTS: From April 2017 to April 2020, after developing the forms and website, the Quality Control Committee evaluated the first 558 files. 73 files (13%) needed major revisions. Among them, 34 (46%) files were omitted totally and the 39 remaining files were revised and completed. After that revision, we changed our checklist and gathered about 1600 patients accordingly. CONCLUSION: Registry of CHDs not only improves epidemiologic studies but also assists researchers to understand how much a disease management is useful and how to raise the quality of cares and outcomes. Moreover, this provides a better insight for policymakers to understand the extent of health-related problems as well as the issues related to the prevention and management of CHDs all around the world.

A case series of pulmonary hypertension in small infants with atrial septal defect.

BACKGROUND: Atrial septal defect (ASD) is one of the most common congenital heart defects (CHDs) with prevalence of 8% to 10% in children with CHD and incidence of 56 per 100000 live births. It is categorized according to the defect site in which the most common form is secundum ASD (ASD2) with the defect in the central part of the atrial septum. CASE REPORT: In our case series, we evaluated five children aged under one year old with ASD2 and pulmonary hypertension (PH). All the patients were referred for surgical ASD closure. Their PH was improved and the size of right atrium (RA) and right ventricle (RV) became normal during the follow-up and one year after the surgery all of them had normal pulmonary artery pressure (PAP) with normal RA and RV size. CONCLUSION: According to our study and those done by others, the prevalence of PH in infants with ASD is low, but when this combination is found without any other CHD, ASD closure should be considered.