Cardiology in the Young最新文献

17p13.3 microdeletions involving deletion of the gene YWHAE are a newly recognised cause of neurodevelopmental disorder. There are now emerging case reports of this genetic disorder associated with CHDs, and this case report outlines the first instance of this specific 17p13.3 microdeletion with pulmonary atresia with ventricular septal defect.

We report a 24-year-old male with functional single ventricle who developed ventricular dysfunction associated with strangulation by a previous epicardial pacemaker lead. During conversion to dual-chamber pacing, the constricting ventricular lead was removed, with intraoperative echocardiography demonstrating improvement in apical contraction. Relief of mechanical compression, together with restoration of atrioventricular synchrony, likely contributed to the recovery of ventricular function.

Background: This study aimed to evaluate patients with beta thalassaemia major using the cardiac electrophysiological index of balance, a new electrocardiography parameter, and to predict ventricular arrhythmias.

Methods: In this study, 60 beta thalassaemia major and 60 healthy children were included. All patients were evaluated with echocardiography. P-wave dispersion, repolarisation times, repolarisation dispersion times, and cardiac electrophysiological balance index were measured using 12-lead electrocardiography. Heart rate variability parameters were evaluated with a 24-hour Holter electrocardiography.

Results: Left ventricular functions were similar between the groups. Although repolarisation times (QT, JT, and JTp) were significantly lower in the beta thalassaemia major group, heart rate-corrected repolarisation times were similar. Except for Tpe/QT, which is one of the repolarisation dispersion parameters, the other parameters were similar. The heart rate-corrected cardiac electrophysiological index of balance ratio was significantly higher in the beta thalassaemia major group. QRS duration and QRS-dispersion duration (QRS-d) were similar between the groups. There was a correlation between blood ferritin levels and LVmass-i, Tpe/QT, Tpe/QTc, QTc/QRS ratio, and QT, JT, and JTp values.

Discussion: Patients with beta thalassaemia major are at high risk for ventricular arrhythmia due to a high QTc/QRS ratio, despite normal left ventricular systolic, diastolic, and autonomic function in the early period. We believe that there is a moderate correlation between blood ferritin levels and the QTc/QRS ratio and that the QTc/QRS ratio can provide important information for the follow-up and evaluation of patients with beta thalassaemia major.

Conclusions: Despite normal early ventricular function in the beta thalassaemia major group, they were at high risk of ventricular arrhythmias.

Background: Exercise capacity (VO_2peak) predicts mortality in adult patients with CHD. There is a lack of paediatric exercise capacity data based on specific CHD lesions, limiting the ability to contextualise interpretation based on expected performance during testing. The primary aim of this study was to establish VO_2peak percentiles for paediatric patients with repaired CHD undergoing treadmill-based cardiopulmonary exercise testing (CPET).

Methods: Retrospective analysis of CPET data from 2004 to 2022. CPETs were analysed for patients with CHD aged 6-18 years. Patients with repaired CHD were categorised based on their most haemodynamically significant CHD lesion. Percentiles and age-based trends were plotted for each group.

Results: A total of 887 patients were included. CHD patients were divided into ten diagnostic subgroups. The mean percent expected VO_2peak for each of the subgroups were as follows: Atrial and ventricular septal defect (94.5 ± 25.1%), pulmonary valve repair (88.1 ± 18.4%), aortic valve repair (92.7 ± 16.4%), tricuspid and mitral valve repair (81.3 ± 20.4%), coarctation of the aorta (93.6 ± 18.8%), transposition of the great arteries (90.5 ± 19.4%), double outlet right ventricle and truncus arteriosus (80.5 ± 16.2%), tetralogy of Fallot (85.6 ± 20.9%), left ventricle dominant Fontan (74.7 ± 18.3%), and right ventricle dominant Fontan (75.7 ± 16.7%).

Conclusion: There is a varying degree of reduced exercise capacity in paediatric patients with repaired CHD. Univentricular hearts and tricuspid and mitral valve repair have the lowest VO_2peak. These CHD-specific percentiles may help providers risk-stratify and counsel patients with CHD.

Background: Renal replacement therapy is sometimes utilised after paediatric heart transplant, although current data on this are extremely limited. We sought to identify incidence of renal replacement therapy and patient characteristics, comorbidities, and outcomes when renal replacement therapy was needed around paediatric heart transplant.

Materials and methods: The Pediatric Health Information System database was queried for paediatric intensive care patients who underwent a heart transplant from 2018 to 2021. Demographic and clinical data were analysed. Only patients admitted for heart transplant with heart transplant occurring on day 0 of admission were included to ensure that renal replacement therapy was postoperative.

Results: A total of 235 patients who underwent heart transplant were included. Of these, 22 (9.3%) required renal replacement therapy. Mortality during admission was 3.8% in those without renal replacement therapy and 40.9% of patients requiring renal replacement therapy. Renal replacement therapy was associated with cardiomyopathy, infection, rejection, acute kidney injury, acute hepatic failure, and fluid overload.

Conclusions: Renal replacement therapy was utilised in 9.3% of paediatric heart transplant admissions and is associated with increased mortality. Postoperative need for renal replacement therapy is associated with increased mortality and adverse transplant outcomes.

Vitamin D deficiency is a common nutritional problem in exclusively breastfed infants. Dilated cardiomyopathy is a rare but potentially fatal complication of this condition. We describe a 15-month-old who presented with cardiogenic shock. Laboratory and radiographic findings were consistent with vitamin D deficiency. Metabolic parameters normalised within one week and echocardiography normalised by 19 months after supplementation. Although rare, severe vitamin D deficiency must be on the differential for young children presenting with new-onset dilated cardiomyopathy. Clinicians must maintain a high index of suspicion for vitamin D deficiency in at-risk populations to prevent potentially life-threatening complications.

While transcatheter atrial septal defect closure is routinely performed, acute biventricular failure is an extraordinary complication in adolescents, with only anecdotal reports in the literature. We present a 16-year-old male with borderline left ventricular systolic function and biventricular diastolic dysfunction who developed transient severe biventricular failure immediately following Amplatzer Septal Occluder (Abbott, Plymouth, MN, USA) deployment. Preprocedural echocardiography revealed right ventricular dilation, a D-shaped septum in diastole. Intraprocedural haemodynamic assessment demonstrated elevated right ventricular diastolic pressures (right ventricular minimal diastolic pressure: 11 mmHg; end-diastolic pressure: 17 mmHg). Haemodynamic collapse occurred within minutes of device release, necessitating emergent dopamine infusion and urgent coronary angiography to rule out device-related complications. Remarkably, ventricular function normalised within 2 hours, enabling extubation the same day. Reports of transient biventricular failure following atrial septal defect closure in adolescents without comorbidities are exceedingly rare, underscoring the critical role of preexisting diastolic dysfunction in precipitating acute decompensation. This case advocates for preprocedural balloon occlusion testing and vigilant haemodynamic monitoring in adolescents with impaired ventricular compliance to mitigate catastrophic outcomes.

Background: Left ventricular assist devices are increasingly used in paediatric patients with end-stage heart failure. Although they improve survival and functional capacity, serious complications can occur.

Case: We report an 11-year-old girl with dilated cardiomyopathy supported by a left ventricular assist device (HeartMate 3) as a bridge to transplant. Despite periodic education about the use of a left ventricular assist device, she entered the sea, leading to driveline and battery seawater exposure. She presented with device alarms but was initially stable. Given the risk of corrosion, emergent battery and lead replacement were performed under intensive monitoring with inotropic support. She experienced transient hypotension during left ventricular assist device cessation but recovered uneventfully.

Conclusion: This is the first paediatric case describing left ventricular assist device seawater exposure. The case highlights the importance of repeated education, psychological support, and preparedness for high-risk interventions. This case also underlines potential infectious and corrosive risks following seawater exposure.