A case of Non-compaction of Left Ventricle Coexistent with Juvenile Nephronophthisis. Is this Another Presentation of Ciliopathy?

Nephronophthisis is a chronic tubulo-interstitial nephritis which can progress to end-stage renal disease. Juvenile nephronophthisis is the most common type of nephronophthisis, which accounts for 5-10% of the cases of pediatric end stage renal diseases. Left ventricular non-compaction (LVNC), a rare form of cardiomyopathy, is the result of intrauterine arrest of compaction of the endomyocardial morphogenesis. Clinical manifestations of LVNC range from asymptomatic child to a progressive deterioration in the cardiac function, congestive heart failure, arrhythmias, systemic thromboembolism and sudden cardiac death. This report presents a case of juvenile nephronophthisis with LVNC. A 15-year-old boy was referred to our nephrology outpatient clinic with a 6-month history of non-specific complaints such as lethargy, anorexia, polydipsia, polyuria, and pallor. Abdominal sonography showed a generalized increase in the parenchymal echo of kidneys. Renal biopsy was performed for him which showed nephronophthisis. Echocardiography was done and revealed LVNC. He was discharged with training for careful follow-up. Our reported case had nephronophthisis and LVNC. To the best of our knowledge, there is no report of this combination in the literature. This suggests that LVNC may be another presentation of cilia involvement. The clinical coexistence of LVNC and nephronophthisis could guide us to better localize and discover the underlying genetic mutations and the role of ciliopathies in various human diseases; Therefore, further research with a special focus on potential common derangement of cilia and protein products in these diseases is recommended. Keywords: Juvenile nephronophthisis; Isolated Noncompaction of the Ventricular Myocardium; Ciliary Motility Disorder

Evaluation of Social Support for Parents of Children with Congenital Heart Disease Referred to Imam Khomeini Clinic at Hamadan City, 2021

Background and Objectives: Congenital heart disease is one of the most common congenital anomalies in children. The purpose of this study was the evaluation of social support in parents of children with congenital heart disease. Materials and Methods: This was a descriptive correlational study. The study population included 200 parents of children with congenital heart disease who referred to Imam Khomeini Clinic in Hamedan in 2020 via available sampling method and using the demographic information questionnaire, social support questionnaire Zimat. Data was analyzed using descriptive and inferential statistics. Results: The mean and standard deviation of the total score of social support 41.4 ± 5.61. The highest social support 15.71 ± 2.23 was related to the family dimension and the lowest social support 12.17 ± 2.39 was related to the dimension of friends. The results of this study showed that the average total score of social support in terms of all demographic variables of parents except maternal occupation has a statistically significant difference (P < 0.05). Conclusions: Social support is tool that improves the quality of life in parents of children with congenital heart disease, so it is recommended to develop a comprehensive care plan for these patients alongside, increasing their parent's social support

The Accuracy of Myocardial Performance Index in the Diagnosis of Right Ventricular Dysfunction After Surgical Correction of Tetralogy of Fallot: A Narrative Review

Context: Tetralogy of Fallot (TOF) is one of the most important congenital heart diseases that its prognosis can be improved by surgery. However, Right Ventricular (RV) function may be disrupted because of pulmonary regurgitation and other preoperative and intraoperative factors. Access to a simple and reproducible diagnostic index of RV function is important. Echocardiographic index of Right Ventricular Myocardial Performance (RVMPI) has been used as a simple and noninvasive method for the assessment of RV function.  Evidence Acquisition: This article review was conducted utilizing PubMed, Web of Science, Scopus and Google Scholar databases with the keywords of “Right Ventricle (RV)”, “Myocardial Performance Index (MPI)”, and “Tetralogy of Fallot (TOF) repair or correction”. Results: RVMPI as a non-geometric echocardiographic index was compared with other echocardiographic indices, QRS duration in ECG, Cardiac Magnetic Resonance (CMR) findings, and exercise capacity in the pediatric and adult studies. Conclusions: This narrative review suggested that RVMPI, especially the tissue Doppler-derived has been used as a useful index of RV function in the follow-up of the repaired TOF patients. However, more research, including systematic reviews are necessary to determine the potential implication of RVMPI in the assessment of RV dysfunction

Right Ventricular Myocardial Tissue Velocities, Myocardial Performance Index, and Tricuspid Annular Plane Systolic Excursion in Totally Corrected Tetralogy of Fallot Patients

Background: Longer survival after the total repair of the Tetralogy of Fallot increases the importance of late complications such as right ventricular dysfunction. This is a prospective study of the right ventricular function in totally corrected Tetralogy of Fallot patients versus healthy children. Methods: Thirty-two healthy children were prospectively compared with 30 totally corrected Tetralogy of Fallot patients. Right ventricular myocardial tissue velocities, right ventricular myocardial performance index, and tricuspid annular plane systolic excursion were investigated as well as the presence and severity of pulmonary regurgitation. Results: The two groups were age-and sex-matched. Mean systolic peak velocity (Sa) and tricuspid annular plane systolic excursion were significantly decreased, while myocardial performance index and early to late diastolic velocity (Ea/Aa) were significantly increased in the Tetralogy of Fallot patients. Early diastolic velocity (Ea) showed no significant difference between the two groups. Sa correlated significantly with tricuspid annular plane systolic excursion in both the normal children and totally corrected Tetralogy of Fallot patients. Myocardial performance index was significantly higher in the patients with moderate to severe pulmonary regurgitation than in those with mild regurgitation. However, there was no significant correlation between this index and right ventricular myocardial tissue velocities. Conclusion: In this study, systolic right ventricular function indices (Sa and tricuspid annular plane systolic excursion) were impaired in the totally corrected Tetralogy of Fallot patients. Myocardial performance index was affected by the severity of pulmonary regurgitation

Evaluation of the Relationship between Troponin T Level and Prognosis of Preterm Neonates Admitted to Neonatal Intensive Care Unit of Fatemieh Hospital in Hamadan

Background and Objective: Due to the prevalence of myocardial dysfunction and Patent Ductus Arteriosus (PDA) in a large number of preterm neonates, the prognosis of these infants is highly related to their early diagnosis and treatment. In this regard, the present study aimed to determine the relationship between troponin T level and the prognosis of premature neonates admitted to the Neonatal Intensive Care Unit (NICU) of Fatemieh Hospital in Hamadan. Materials and Methods: In this cross-sectional study, a certain number of infants who underwent serum levels of troponin T from 72 hours to one week after birth were assessed for demographic information, length of hospital stay, complications during hospitalization, acidosis, inotropic agents, recovery, and mortality, as well as their relationship with troponin level. Results: Out of 61 neonates, 22 patients had large PDA with a troponin level of 436±50.2 pg/ml, 14 patients had a small PDA with a troponin level of 260.5±89.8 pg/ml, and 25 patients were without PDA with a troponin level of 277.1±229.7 pg /ml (P = 0.203). There was no statistically significant difference between the three groups. The mean levels of troponin were 423±521 and 274±154 pg/ml in deceased and surviving neonates, respectively (P=0.194). Inotropic was significantly higher in deceased patients (P=0.003), and troponin T level was statistically significant (P=0.008). The relationship between troponin level and severe acidosis (P=0.051) was not significant, with a small difference that could be clinically valuable. Conclusion: Serum troponin T level was higher in preterm neonates with large PDA and deceased ones who received inotropic agents due to hemodynamic disorders and severe acidosis