Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report.

Herein we present a case of a neonate with congenital left ventricular diverticulum (LVD), a rare anomaly, with an unusual course and unexpected findings. The neonate was born at 35 weeks in Namazi Hospital (Shiraz, Iran) and presented with a pulsatile umbilical mass immediately after birth. Based on multiple imaging modalities, the presence of a connection between the left ventricular apex and the umbilicus was confirmed. Percutaneous closure of LVD was unsuccessful. The patient's clinical course deteriorated after developing sepsis and multiorgan failure. The patient passed away before any corrective surgery could be performed. Unexpected findings in post-mortem evaluation were severe hepatic macrovesicular steatosis (suggestive of metabolic liver disease) and regulatory factor X6 (RFX6) heterozygous missense mutation in whole-exome sequencing.

Q wave in paediatric myocarditis: an underinvestigated, readily available prognostic factor.

BACKGROUND: Myocarditis is an uncommon disease in children with potentially fatal consequences. An electrocardiogram (ECG) change seen in myocarditis is pathological Q wave. Pathological Q wave is linked to permanent damage and myocardial death in several cardiac diseases. We investigated the significance of pathological Q waves in children with acute myocarditis (AM). METHODS: This retrospective observational study analysed the data of 59 children with AM admitted to our hospital between January 2016 and July 2021. They were divided into Q wave and non-Q wave myocarditis groups. Patients' laboratory data, echocardiography, treatment and hospital outcome were analysed. RESULTS: Patients were 64.4% male and had a median age of 6 years and 9 months. Pathological Q waves were found in 52.5% of the patients. Q wave myocarditis group had higher troponin I values (499 vs. 145 ng/L, p = 0.011) and longer hospital stays (13 vs. 9 days, p = 0.020) than the non-Q wave group. They also required higher doses of inotropic or vasoactive drugs. 61.3% of Q wave patients needed mechanical ventilation compared to 35.7% of non-Q wave patients (p = 0.069). All the patients who died or discharged with an LVEF < 30% belonged to the Q wave group. CONCLUSION: Q wave in AM warrants close monitoring and intensive treatment as it accompanies more severe complications and poorer outcomes. This readily available ECG finding can be a clue to prognoses of AM patients. Further research with larger populations is needed to better understand Q wave prognostic accuracy and its potential role in guiding more expensive treatments.

Pericardial effusion among children: Retrospective analysis of the etiology and short-term outcome in a referral center in the south of Iran.

Background and Aims: We reinvestigated the causes, symptoms, and management of childhood pericardial effusion (PE) and its gradual changes during recent years in a referral pediatric cardiology center in the south of Iran. Methods: We retrospectively analyzed the profile of PE patients who were under 18 years old from 2015 to 2020. The patient's demographic, clinical, and paraclinical information was extracted and analyzed using SPSS software. Result: In general, 150 out of 63,736 admitted patients (0.23% of the total pediatric admissions) were diagnosed with PE (male/female 1:1.17). The median age was 3.25 years (range:\ 2 days to 18 years; interquartile range: 9.5), and 50% of them were under 3 years of age. 32.6% had moderate to severe PE. Most patients presented with acute symptoms (68%) and respiratory problems, as the most common symptoms (30.6%). Tamponade signs were presented in 2% (n = 3) of the patients, and 80.7% (n = 121) were in a stable hemodynamic condition. In total, renal failure (22%) and parapneumonic effusion were the leading etiologies. Viral (7%) and bacterial (5%) pericarditis were the seventh and eighth causes; however, in severe cases, renal failure (22%) and bacterial pericarditis (14%) were dominant. In total, 14.1% (n = 21) of the patients needed pericardiocentesis that increased to 78.3% (n = 18) in severe cases. Only 6% had persistent PE for more than 3 months. Conclusion: Childhood PE is mostly a result of renal failure and noninfectious causes. True pericarditis cases are not common, except in severe cases. It is more common in less than 3-year-old patients, and chronicity is rare. Severe cases had a high chance of pericardiocentesis, but other cases were mainly managed by treatment of the underlying causes.

Effect of coarctation of aorta anatomy and balloon profile on the outcome of balloon angioplasty in infantile coarctation.

OBJECTIVE: Coarctation of the Aorta (CoA) is a relatively common cardiovascular disorder. The present study aimed to evaluate the effect of COA anatomy and high versus low-pressure balloons on the outcome of balloon angioplasty among neonates and infants. METHODS: In this retrospective study, the neonates and infants undergoing balloon angioplasty at Namazi hospital were enrolled. After balloon angioplasty, immediate data results were promptly recorded.Moreover, midterm echocardiographic information was collected via electronic cardiac records of pediatric wards and clinical and echocardiographic data at least 12 months after balloon angioplasty. Finally, data were analyzed using SPSS-20. RESULTS: In this study, 42 infants were included. The median age at the time of balloon angioplasty was 1.55 (range 0.1-12) months and 66.7% of the patients were male. The mean pressure gradient of coarctation was 38.49 ± 24.97 mmHg, which decreased to 7.61 ± 8.00 mmHg (P < 0.001). A high-pressure balloon was used in 27, and a low-pressure balloon was used in 15 patients. COA's pressure gradient changed 30.89 ± 18.06 in the high-pressure group and 24.53 ± 20.79 in the low-pressure balloon group (P = 0.282). In the high-pressure balloon group, 14.81% and in the low-pressure group, 33.33% had recoarctation and need second balloon angioplasty (p < 0.021). The infant with discrete coarctation had a higher decrease in gradient and lower recoarctation. CONCLUSION: Recoarctation rate was lower in the high-pressure balloon. The infant with discrete COA had a better response to the balloon with more decrease in gradient and lower recoarctation rate. Therefore, the stenotic segment anatomy needs to be considered in the selection of treatment methods.

Midterm follow up of transcatheter closure of coronary artery fistula with Nit-Occlud® patent ductus arteriosus coil.

BACKGROUND: Coronary artery fistula (CAF) is a rare congenital anomaly with a challenging scenario in children. This study reports our experience in transcatheter closure of CAF with Nit-Occlude PDA coil and midterm clinical and imaging follow-up. METHODS: Twelve children with congenital CAF between 2009 and 2019, mean age 2.05 ± 2.05 years (4 days to 7.2 years), mean weight 8.8 ± 4.83 (2.8-17 kg), who underwent transcatheter closure with PFM coil at the Namazi hospital, Shiraz, Iran, were reported. Echocardiography and electrocardiogram were done before and after the procedure (early, 3, and 6 months after), and Multi-slice computerized tomography or conventional coronary angiography was performed at least one year after closure. RESULTS: In a median follow-up of 5.5 years (range 13 months to 8 years), retrogradely closed fistula had no residual, and the fistula tract was wholly occluded, but in most anterogradely closed fistula, had a small residual, which made the fistula tract open and need additional coil closure. CONCLUSIONS: Transcatheter closure of CAF with PFM coil is feasible and effective with low mortality and morbidity, although antegrade closure with this device may be accompanied by residual shunt and need for multiple coil insertion.

Japanese Kawasaki Disease Scoring Systems: Are they Applicable to the Iranian Population?

BACKGROUND: Kawasaki disease (KD) is the most frequent cause of coronary artery aneurysm (CAA) in children. This study tried to evaluate the accuracy of different KD scores developed for prediction of CAA, in an Iranian population. METHODS: This is a cross-sectional retrospective investigation on pediatric patients with a diagnosis of KD. Clinical manifestations, laboratory, and echocardiographic data were recorded. Five Kawasaki scores, including Kobayashi, Egami, Sano, Nakano, and Harada, were assessed and analyzed in relation to CAA and intravenous immunoglobulin (IVIG) resistance. RESULTS: During five years, we recruited 121 cases of KD under 13 years of age. The rates of CAA and IVIG resistance were 16.5%, and 13.2% respectively. The IVIG resistance group was significantly younger than responder patients. All five scores had low sensitivity in predicting CAA or IVIG resistant cases; the highest sensitivity pertained to the Harada score with 50% sensitivity and 59% specificity (the area under the curve: 0.545, with a 95% confidence interval: 0.423 to 0.667) in predicting CAA, which is lower than the usual acceptable criteria for a screening test. The specificity of all other scores were more than 85% in predicting CAA or IVIG resistance. Gender, fever before therapy and laboratory data showed no significant difference between the groups. CONCLUSION: The Kobayashi, Egami, Sano, Nakano and Harada scores have limited usefulness in the Iranian population to predict high risk patients for coronary artery involvement or IVIG resistance; in our study, age under one year was a risk factor for IVIG resistance.

Management of Persistent Pulmonary Hypertension After Correction of Congenital Heart Defect with Autologous Marrow-Derived Mononuclear Stem Cell Injection into the Pulmonary Artery: A Pilot Study.

Pulmonary arterial hypertension (PAH) related to left-to-right shunt can progress to Eisenmenger syndrome, a serious and fatal disease that is not yet curable. This pilot study considered stem cell injection as a new treatment modality in persistent pulmonary hypertension after the correction of a congenital heart defect. Three patients with persistent pulmonary hypertension after ventricular septal defect repair were included in this pilot study for a clinical trial. Mononuclear stem cells derived from patients' bone marrow specimens were injected into the right and left pulmonary arteries via cardiac catheterization. The patients were followed over a 6-month period, with six-minute walk test, echocardiography and repeated angiography performed in the sixth month after treatment. The results of the study showed improvement of 40 m, 280 m and 100 m in 6-minute walk distance in patients 1 to 3, respectively. The peak PR gradient decreased 2, 5 and 9 mmHg by echocardiography, and mean PA pressure decreased 21, 22 and 9 mmHg by catheterization in patients 1 to 3, respectively. Pulmonary artery resistance decreased 4, 4.5 and 1.3 Wood units after 6 months of stem cell therapy in the three patients. No short-term complications were detected in this pilot trial, and all patients tolerated the procedure without any complications. Intrapulmonary artery injection of stem cells may have a role in the treatment of persistent PAH secondary to congenital heart disease. This procedure is feasible, with no significant complications, and this study can be considered as a platform for larger studies.

Follow-Up Results of Device Occlusion of Patent Ductus Arteriosus.

BACKGROUND: Transcatheter patent ductus arteriosus (PDA) closure is an established procedure. OBJECTIVES: The aim of the study was to assess midterm follow up of the Nit-Occlud coil and the amplatzer ductal occluder (ADO) closure of PDA. PATIENTS AND METHODS: In this cohort study, we collected the longitudinal data of patients who underwent percutaneous closure using coil or ADO from November 2005 to November 2013. A total of 404 patients with PDA closure by devices were included during the study period. Coil occlusion was performed in 220 patients and 184 patients underwent catheterization using ADO. Follow-up evaluations were performed with echocardiography at two weeks, two months, six months, and during the study period (in average 4.8 ± 3.8 years). RESULTS: The patients' mean age was 24 months (range: 1 - 312). The catheterization was successful in 393 (97.2%) patients and unsuccessful in 11 (2.7%). Immediate complete occlusion was seen in 290 (73.7 %) patients. The occlusion rates at two weeks, two months, six months, and during the study period were 73.7%, 84%, 93.6%, 98.7%, and 99.5%, respectively. Complications occurred in 23 (5.8%) patients during or immediately after the catheterization, and device embolization with 2.7% was the most common complication. Most complications occurred in a patient with pulmonary hypertension who was less than one year old and was undergoing the first year of experience with devices. CONCLUSIONS: Our findings showed that transcatheter occlusion of the PDA is an effective and safe intervention by coil or Amplatzer with excellent early and one-year outcomes. Pulmonary hypertension, age of less than 12 months and experience of less than one year may increase the complications of device closure.

Noninvasive Assessment of Pulmonary Artery Pressure in Patients with Extracardiac Conduit Total Cavopulmonary Connection.

To assess quantitative measurement of mean pulmonary artery pressure (PAP) in extracardiac total cavopulmonary connection (TCPC) patients by noninvasive echocardiographic inferior vena cava collapsibility index (IVC-CI) and also correlation between the peripheral vein pressure and mean PAP. In 19 TCPC patients with at least 1-year follow-up after completion of TCPC, complete echocardiography including IVC-CI was recorded. All patients underwent cardiac catheterization for mean PAP pressure, peripheral vein pressure (PVP) and contrast study. Different cutoff points of mean PAP were analyzed, and based on the highest cutoff point, patients were categorized into two groups: mean PAP < 17 mmHg (acceptable) and > = 17 mmHg (high) for comparison analysis. Between 2006 and 2015, from 43 patients who had undergone TCPC, nineteen patients with a mean age 12.9 ± 6.6 years and mean follow-up time of 3.4 ± 1.9 years were included in this study. Mean PAP was 14.6 ± 3.97 (range 8-22 mmHg). Thirteen (68 %) patients had PAP < 17 mmHg. No significant statistical difference was detected with respect to age, sex, type of congenital heart disease and fenestration between these two groups. But, right ventricular dominancy was more prevalent in the high PAP group (50 % vs. 7.7 % P value 0.03). IVC-CI had a correlation with mean PAP (r 0.67, P < 0.001). IVC-CI < 21.8 % can predict PAP > = 17 mmHg with 83 % sensitivity and 100 % specificity. Regression analysis proposed an equation for PAP measurement: PAP (mmHg) = 20.2097-0.1796 × (IVC-CI), (r2 = 0.56). Peripheral vein pressure measurement also showed a good correlation with mean PAP and may be used to estimate PAP with the following equation: PAP (mmHg) = 0. 8675 × PVP, (r 0.90, P < 0.0001). In conclusion, IVC-CI as noninvasive and peripheral vein pressure measurement as a minimal invasive method may be useful for quantitative estimation of PAP in patients with extracardiac TCPC.

Association between type 2 diabetes mellitus, biochemical factors and UCSNP-43 polymorphisms of CALPIN-10 gene in patients with atherosclerosis of coronary artery disease in Southern Iran population.

INTRODUCTION: Genetic variations in the calpain 10 gene (CALPIN-10), single nucleotide polymorphisms-43 (SNP-43), have increased the risk of type 2 diabete mellitus (T2DM) and coronary artery disease (CAD). METHODS: We studied the control and CAD groups for association of association of SNP-43 in the CALPIN-10 gene with T2DM and other risk factors of its complications. Overall, we examined 452 individuals, 224 patients with CAD and 228 healthy subjects for CAD in Iranian population. All the subjects were genotyped for the CALPIN-10, SNP-43 by polymorphism chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods, using biochemical methods to detect fasting glucose and other biochemical factors in the blood sample. We assessed frequencies of SNP-43 alleles between CAD and normal population groups. RESULTS: In CAD patients, the GG allele was significantly associated with T2DM and GG allele was causing high level of glucose. But in control group, there was no relationship between them. Between clinical and biochemical risk factors with different genotypes there was no significant difference in the compared group. CONCLUSION: The results of our study suggest no significant association between SNP-43 and the risk of T2DM. In other words, CALPIN-10 did not show a major diabetes gene pool capacity in normal southern Iranian population.

High-Dose Oral Ibuprofen in Treatment of Patent Ductus Arteriosus in Full-Term Neonates.

BACKGROUND: Patent ductus arteriosus (PDA) is an important risk for heart failure due to left to right shunt in term neonates. OBJECTIVES: In this study, we evaluated the effect of high dose ibuprofen in closure of PDA in term neonates. PATIENTS AND METHODS: We used double dose ibuprofen (20 mg/kg, 10 mg/kg, and 10 mg/kg) for 3 - 30 day old term neonates with PDA who were admitted in the neonatal wards of Shiraz University of Medical Sciences. The results of this study were compared to the data of the previous study in our center which used the low dose of ibuprofen (10 mg/kg, 5 mg/kg, and 5 mg/kg). RESULTS: 29 full term neonates received high-dose ibuprofen, in 18 neonates, PDA was closed after 4 days (62.1% versus 43.3% for the standard dose and 4.7% for the control group in the previous study) (P = 0.001). The results showed no significant correlation between the closure rate and gestational age, postnatal age, sex, and weight. In the 4(th) day of treatment, size of the pulmonic end of ductus arteriosus decreased from 2.09 mm to 0.77 mm compared to 1.68 mm to 0.81 mm in the standard dose of oral ibuprofen and 2.1 mm to 1.4 mm in the control group (P = 0.046). CONCLUSIONS: This study indicated that high-dose oral ibuprofen was more effective in closing or decreasing the size of PDA.

Evaluation of left ventricular function by tissue Doppler and speckle-derived strain rate echocardiography after percutaneous ductus closure.

The aim of this study was to evaluate the left ventricular systolic and diastolic function before and after transcatheter percutaneous patent ductus arteriosus (PDA) closure. 21 children (age >6 months old) diagnosed with hemodynamically significant PDA underwent percutaneous PDA closure. Conventional, Doppler and tissue Doppler imaging and speckled-derived strain rate echocardiography were done at pre-closure, 1 day (early) and 1 month (late) post-closure. Mean age of the patients (female/male: 1.3) was 17.54 ± 24.7 months with the mean PDA diameter of 3.6 ± 0.8 mm. Systolic measures (ejection fraction, shortening fraction) reduced significantly early after PDA closure (P < 0.05). After 1 month, both improved significantly; ultimately, after 1 month no change was observed in systolic function measures compared with the pre-closure status. Early and late diastolic flow velocities of mitral (E M and A M) reduced considerably in early and late post-closure time (P < 0.05). Both early tissue Doppler early velocity of lateral mitral annulus (E'M) and early to late velocity ratio (E'M/A'M) of lateral mitral annulus decreased significantly (P = 0.02) in early post-closure. After 1 month, E'M increased considerably. (P = 0.01) but E'M/A'M had an insignificant rise (P > 0.05). E M/E'M ratio did not change in early post-closure but it had a considerable reduction in the subsequent month compared with the pre- and early post-closure (P < 0.001 for both occasions). Global and segmental longitudinal strain measures reduced significantly early after PDA closure (P < 0.05) but it improved remarkably in the subsequent month. Transcatheter PDA closure causes a significant decrease in left ventricular performance early after PDA closure which recovers completely within 1 month. Also PDA size can affect post-closure left ventricular function.

Acute hemodynamic effects of single oral dose of bosentan in patients with pulmonary arterial hypertension related to congenital heart disease.

BACKGROUND: Endothelin-1 is a potent endogenous vasoconstrictor and an important remodeling factor in the pathogenesis of pulmonary arterial hypertension (PAH). Bosentan, a nonselective and active dual endothelin receptor antagonist, is used as a vasodilator in treatment of such patients. This study aimed to evaluate acute response to a single oral dose of bosentan as a vasodilator agent in comparison with nasal oxygen (O2) in patients with PAH related to congenital heart disease (CHD). MATERIALS AND METHODS: We enrolled 20 patients with PAH-CHD, with a mean age of 5.45 ± 4.5 years. Hemodynamic variables were measured at baseline state, after administration of nasal O2 (5 L/min) for 20 minutes, and then when hemodynamic variables returned to the baseline, the measurements were repeated for the third time 3 hours after administration of a single oral dose of bosentan (2 mg/kg). RESULTS: Mean pulmonary vascular resistance was 9.92 ± 2.97 Wood units · m(2) at baseline and was lowered by O2 to 6.17 ± 2.71 Wood units · m(2) (P = .001) and by bosentan to 5.90 ± 2.69 Wood units · m(2) (P = .0001). Mean pulmonary artery pressure was 71.2 ± 15.4 mm Hg at baseline and was reduced to 62.6 ± 15.2 mm Hg (P = .001) by O2 and to 61.6 ± 14.8 mm Hg (P = .0003) by bosentan. CONCLUSION: A single oral dose of bosentan has the same acute vasodilatory effect on the pulmonary vascular bed as nasal O2 in patients with PAH related to CHD. Such patients may benefit from long-term therapy with this novel medication.