Echocardiographic assessment of cardiovascular involvements in children with cystic fibrosis.

BACKGROUND: Over the past four decades, numerous case reports and clinical studies have highlighted the presence of heart disease in individuals with cystic fibrosis. Given the limited information in this field and the imperative to identify early changes during childhood, our study aims to explore cardiac dysfunction in patients with cystic fibrosis using echocardiography. METHODS: In this case-control study, we examined echocardiographic findings from thirty-three patients with cystic fibrosis and sixty healthy children. Demographic information for both groups was recorded, and the disease severity in patients was assessed using the Schawachman criterion. M-mode, Doppler flow velocity, and Tissue Doppler Imaging echocardiography were performed for all participants, with subsequent data analysis using SPSS 24. RESULTS: Our study encompassed thirty-three CF patients and sixty healthy children. The estimated pulmonary artery blood pressure (systolic and mean) in patients with cystic fibrosis was significantly higher than in the control group (P < 0.05). Additionally, the mean trans-tricuspid peak early to late diastolic flow velocity (E/A) was significantly lower in the case group than the control group (P < 0.05), along with a significantly lower mean tricuspid valve deceleration time (DT) (P < 0.05). Similarly, the mean TAPSE in the case group was notably lower than in the control group (P < 0.05). No significant difference in Mean left ventricular Ejection Fraction (EF) and Fractional Shortening (FS) existed between the two groups (P > 0.05). Furthermore, Trans-mitral peak early to late diastolic flow velocity (E/A) in the case group was significantly lower than in the control group (P < 0.05), and the mean mitral valve DT in the case group was also significantly lower (P < 0.05). CONCLUSION: Our study findings indicate the presence of some degree of right ventricular dysfunction in children with cystic fibrosis. This finding may have implications for the development or modification of clinical guidelines for managing cystic fibrosis in children. Further investigations are recommended to elucidate the underlying mechanisms and contributing factors, providing valuable insights for clinical management.

A novel gene mutation for multicentric osteolysis nodulosis and arthropathy: Case report and review of literature.

Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), Torg syndrome (TS) and Multicentric Osteolysis Nodulosis and Arthropathy (MONA) are progressive skeletal dysplasia consisting of acro-osteolysis. Mutation in Matrix Metalloproteinase 2 (MMP2), Matrix Metalloproteinase 14 (MMP14) and SH3PXD2B are known genetic defects in these disorders. We hereby report a 5 years and 9 months old girl suffering from progressive limb deformity. She is the first child of a relative couple, who was referred to metabolic disorders' clinic due to poor growth and bone pain. On physical examination, minor facial dysmorphism, hypertrichosis, severe hand deformity with limitation in range of motion in carpal, metacarpal and phalangeal joints, hallux valgus deformity of feet, soft tissue hypertrophy and nodule formation in palmoplantar areas were detected. Her past history indicated a cardiac defect resulting in open heart surgery at 8 months of age. Genetic study revealed a new homozygote nonsense mutation in MMP2 gene explaining her clinical manifestations. We recommend careful evaluation and follow-up of patients with congenital heart disease, as it may be the first presentation of a genetic multisystem disorder. Early differentiation of the disease from other skeletal dysplasia and rheumatologic disorders could prevent unnecessary management.

Role of A Single Nucleotide Polymorphism in Thrombospondine 4 Gene in Premature Myocardial Infarction among Population of Southern Iran.

BACKGROUND: Coronary Artery Diseases (CAD) are the leading cause of Myocardial Infarction (MI). However, their underlying etiology can be found in the interplay between environmental and genetic factors. On the other hand, it has been shown that Extracellular Matrix (ECM) proteins, such as Thrombospondins (TSP), play a crucial regulatory role in vascular pathologies, including atherogenesis. TSPs are extracellular proteins responsible for intercellular and cell-ECM interactions and are involved in regulating functional responses. Recently, a missense mutation in the TSP-4 gene has been reported to potentially increase the risk of CADs. The present study aimed to investigate the role of rs1866389 Guanosine to Cytosine (G/C) Single Nucleotide Polymorphism (SNP) of the TSP-4 gene on the prevalence of premature MI in southern Iran. METHOD: The present case-control study included 100 patients with premature MI and 100 healthy individuals. The DNA extracted from the blood samples of the participants underwent Polymerase Chain Reaction (PCR) for the sequence of the TSP-4 gene. Afterward, the frequency of C (mutated) and G (normal) alleles of the TSP-4 gene was evaluated in the case and control groups. RESULTS: According to our findings, there was no significant intergroup difference in gender, age, and smoking status. However, the case group was significantly higher in the prevalence of Diabetes mellitus (DM), Hyperlipidemia (HLP), and Hypertension (HTN) compared to the control group. Moreover, 22%, 49%, and 29% of the case group had CC, GC, and GG genotypes in the TSP-4 gene, respectively, while the prevalence of CC, GC, and GG genotypes were 10%, 44%, and 46% in the control group. Also, the prevalence of allele C was significantly higher in the case group (47%) compared to the control group (33%, P=0.043), showing its significant association with the increased risk of premature MI (OR = 1.80; 95% CI = 1.01-3.19). CONCLUSIONS: The rs1866389 G/C SNP of the TSP-4 gene significantly increased the risk of premature MI in the population of southern Iran. Thus, such mutated gene can be used as a target for gene therapy or a marker for early detection of individuals at high risk for CADs.

Postoperative outcome for hyperglycemic pediatric cardiac surgery patients.

This prospective cohort study aimed to determine the morbidity and mortality among hyperglycemic pediatric patients after cardiac surgery. The study was conducted in a pediatric intensive care unit (PICU) for cardiac surgery patients at a university-affiliated, referral, heart hospital. A total of 379 postcardiac surgery pediatric patients participated in the study. No interventions were performed. Measurements of blood glucose level together with other clinical and laboratory data were collected on postoperative days 1, 2, 3, and 7. Mean blood glucose level exceeding 126 mg/dl was considered hyperglycemia, and a level exceeding 200 mg/dl determined severe hyperglycemia. These measurements were analyzed for association with major complications and death. Hyperglycemia was common (86%) in this cohort study. There was no statistical correlation between hyperglycemia and death or major complications, but patients with severe hyperglycemia showed a significantly higher mortality rate (16/64 deaths [25%] vs. 13/315 deaths [4.12%]; P < 0.001]) and more morbidities (16/64 [25%] vs. 43/315 [13.65%]; P = 0.022). Severe hyperglycemia was independently associated with mortality according to multivariate logistic regression. Hyperglycemia is quite prevalent among pediatric patients after cardiac surgeries. Severe hyperglycemia is associated with higher morbidity and mortality rates in this patient population.

Balloon Angioplasty versus Surgical Repair of Coarctation of Aorta in Infants.

BACKGROUND: Coarctation of the aorta is a discrete stenosis of the proximal thoracic aorta. The common clinical pattern is congestive heart failure in infancy. Treatment methods include balloon angioplasty and surgical repair in this age group. Percutaneous balloon angioplasty is a less invasive method for the repair of discrete coarctation but remains controversial as a primary treatment strategy for a native coarctation. This study aimed to compare the effectiveness and outcome of balloon angioplasty and surgical repair in coarctation infants younger than 1 year old. METHODS: This retrospective study evaluated the results of the two methods in 167 patients younger than one year old admitted into a tertiary heart center pediatric ward with the diagnosis of coarctation of the aorta: Balloon angioplasty was done for 55 and surgical repair for 112 infants. Patients with previous interventions were not included in this study. RESULTS: Primary results revealed no significant difference in the effectiveness of the two methods (p value = 0.0601). While the rate of recurrent coarctation was significantly lower in the surgery group [19 (17%) vs. 11 (20%), p value = 0.0470], the mortality rate was lower in the balloon angioplasty method [5 (5.5%) vs. 13 (11.6%), p value = 0.039]. Our multivariate logistic regression model, however, showed no statistically significant difference (p value = 0.120). CONCLUSION: Because of the incidence of re-coarctation, balloon angioplasty compared with surgical repair did not confer an improved outcome for our infants' coarctation.