Annals of Pediatric Cardiology最新文献

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac ion channelopathy where the initial disease presentation is during childhood or adolescent stages, leading to increased risks of sudden cardiac death. Despite advances in medical science and technology, several gaps remain in the understanding of the molecular mechanisms, risk prediction, and therapeutic management of patients with CPVT. Recent studies have identified and validated seven sets of genes responsible for various CPVT phenotypes, including RyR2, CASQ-2, TRDN, CALM1, 2, and 3, and TECRL, providing novel insights into the molecular mechanisms. However, more data on atypical CPVT genotypes are required to investigate the underlying mechanisms further. The complexities of the underlying genetics contribute to challenges in risk stratification as well as the uncertainty surrounding nongenetic modifiers. Therapeutically, although medical management involving beta-blockers and flecainide, or insertion of an implantable cardioverter defibrillator remains the mainstay of treatment, animal and stem cell studies on gene therapy for CPVT have shown promising results. However, its clinical applicability remains unclear. Current gene therapy studies have primarily focused on the RyR2 and CASQ-2 variants, which constitute 75% of all CPVT cases. Alternative approaches that target a broader population, such as CaMKII inhibition, could be more feasible for clinical implementation. Together, this review provides an update on recent research on CPVT, highlighting the need for further investigation of the molecular mechanisms, risk stratification, and therapeutic management of this potentially lethal condition.

The most encountered anomalous systemic venous drainage is a persistent left superior vena cava that drains into the right atrium through the coronary sinus. A much rarer anomalous systemic venous drainage is that of isolated anomalous drainage of a normally positioned right superior vena cava (RSVC) into the left atrium (LA). This has been reported in approximately 20 patients, with the diagnosis usually made by cardiac catheterization. We report the youngest case diagnosed at the age of 3 h after birth with hypoxemia resulting from anomalous drainage of a normal RSVC into the LA. This was diagnosed noninvasively by echocardiography and confirmed by cardiac computed tomography angiography.

In response to the survey among early career pediatric cardiologists from India and the accompanying editorial, we invited comments and suggestions from thought leaders and senior functionaries in the field. We have summarized the thoughts and suggestions as a mini-symposium.

Background: In general, the risks associated with transcatheter atrial septal defect (ASD) device closure are reported to be relatively low, but the evidence stems from trials involving adults and older children. Current guidelines do not recommend ASD device closure in children with defect sizes >20 mm due to limited data available in this group of patients. This retrospective study sought to determine the clinical and procedural characteristics of successful transcatheter ASD device closure in small children with large defects and assess the complication rates and reasons for unsuccessful device closure.

Methods: We retrospectively reviewed the data of all patients who underwent elective transcatheter closure of ostium secundum ASD in our department between September 2013 and February 2022. All children weighing <20 kg, requiring a device of size 20 mm or greater, were included. Major and minor complications were predefined and indications for referral were evaluated. Echocardiogram reports were reviewed from the time of referral, postcatheterization day 1, and at 1-year follow-up.

Results: We identified 40 patients meeting inclusion criteria with a median (interquartile range [IQR]) procedural age of 5 (4-7) years and median (IQR) weight of 14 (12-18) kg. Successful device closure was achieved in 39 patients with a success rate of 97.5%. The total complication rate was 2.5% (95% confidence interval: 0.44%- I2.8%) with only 1 major complication. All children had right heart enlargement and exertional dyspnea, 30% of patients had recurrent lower respiratory tract infections, and 10% had failure to thrive. At 1-year follow-up, a transthoracic echocardiogram showed a well-endothelialized device in a stable position in all the patients, and none of the patients had a residual shunt.

Conclusion: In experienced centers, percutaneous ASD closure of large defects in symptomatic small children can be done effectively and safely with a great degree of predictability and a low complication rate.

Background: Optimization of pulmonary to systemic blood flow (Qp: Qs) is the key to postoperative care of children with a single-ventricular heart. The ratio of end-tidal CO2 to partial pressure of CO2 called alveolar functional fraction (AFF) has shown a strong relationship with Qp: Qs in the catheterization lab in this population (with Qp: Qs of 1 correlating with AFF of 0.7). As there are no studies to understand the relationship between AFF and clinical outcomes in the postoperative care of these children, this study was carried out.

Methodology and results: This retrospective cohort study included 29 postoperative periods of children who underwent surgery for a single-ventricular heart. The average AFF was calculated for each early postoperative period. The primary clinical outcome was time in hours to normalize lactate. Other clinical outcomes included duration of mechanical ventilation, duration of milrinone infusion; presence of acute kidney injury (AKI), seizures and necrotizing enterocolitis (NEC); need for tracheostomy, need for extra-corporeal support, and mortality in the first 60 days postoperatively. The study population was divided into Group 1 with AFF ≤0.7 and Group 2 with AFF >0.7, to compare the outcome differences between the groups. Time to normalize the lactate had a modest negative correlation with the AFF, with Pearson's r = -0.49 (P = 0.007) for the entire cohort. The clinical outcomes were not statistically different for groups with AFF ≤0.7 and with AFF >0.7, although the group with AFF ≤0.7 had a higher incidence of NEC and higher mortality, whereas the group with AFF >0.7 had a higher incidence of AKI.

Conclusions: In this small study, the AFF showed a modest negative correlation with the time to normalize lactate in postoperative care after surgery for a single-ventricle heart. There were the trends with some other important clinical outcomes but not statistically significant. A larger, multi-center study is needed to delineate these relationships further.

Anomalous origin of a branch pulmonary artery from the aorta is a rare congenital anomaly that requires early surgery to prevent pulmonary vascular disease. The rate of reintervention after surgery remains high. Many aspects of the management could be improved such as assessment of operability in late presenters, selection of suitable surgical technique in each case, and prevention of anastomotic complications. We report the series of 10 patients who were operated for this anomaly. We aim to focus on the current challenges in the management of this condition.

Background: Childhood obesity has become a global concern, with its prevalence steadily increasing over the past decade. This condition negatively impacts the cardiovascular system, increasing the risk of morbidity and mortality in adulthood. This study aimed to identify cardiac function abnormalities and related risk factors among overweight and obese Thai children.

Materials and methods: A cross-sectional observational study of 70 children with body mass index (BMI) >1 standard deviation above the mean for Thai children was conducted at Naresuan University Hospital. Body fat percentage (%Fat) was measured, and standard transthoracic echocardiography was performed. Metabolic profiles were collected from medical records.

Results: The thickness and diameter of the Left ventricle (LV) wall, including the LV posterior wall, LV internal diameter, and interventricular septum (IVS), were significantly increased in both systolic and diastolic phases in obese children. LV concentric hypertrophy and an abnormal E/E' ratio were found in 27% and 34.3% of participants, respectively. Right ventricular systolic dysfunction indicated by abnormal tricuspid annular plane systolic excursion values was found in 55.7% of all participants. In addition, 27.1% of all obese children had pulmonary hypertension. Significant differences in BMI and %Fat were detected between children with abnormal and normal IVS diastolic (IVSd) (P = 0.016). Our univariate and multivariate correlation analyses revealed a significant positive association between abnormal IVSd and %Fat, with an odd ratio (OR) of 1.13 (95% confidence interval [CI]: 1.01-1.27; P = 0.047) and an adjusted OR of 1.17 (95% CI: 1.01-1.36; P = 0.04).

Conclusions: Cardiac function abnormalities in childhood obesity exhibit a significant positive correlation with BMI and various cardiac dimensions, including ventricular wall thickness. One important related risk factor for increased IVS thickness is %Fat. Therefore, multidisciplinary management of obesity should be initiated as early as possible to prevent future cardiovascular morbidity and mortality.

A 6-year-old boy with a history of infective endocarditis (IE) presented with recurrent disease manifesting as left hip arthritis and severe mitral regurgitation. He developed a rare complication - a left atrial pseudoaneurysm. Despite the absence of classic fever and systemic symptoms, imaging revealed the recurrence and guided surgical repair. This case highlights the complexities of recurrent IE in children and underscores the importance of high clinical suspicion and imaging modalities like echocardiography for diagnosis and management.

Pentalogy of Cantrell is a rare congenital anomaly involving the anterior diaphragm, pericardium, sternum, peritoneum, and associated intracardiac defects. In this report, we describe a neonate with pentalogy of Cantrell evaluated with multimodality imaging and successfully managed by a multidisciplinary team.