Background: Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid β-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most frequent mutation. Case presentation: We describe two patients who had homozygous D448H mutations. The index patient had hepatosplenomegaly, liver insufficiency and cardiac involvement and her sister had severe cardiac involvement with cardiomyopathy and diffuse aortic calcification. The index case’s liver was transplanted at the age of 6 months from a related donor and her sister who had severe cardiovascular disease died at the age of 12 years. Conclusions: Our patients had clinical variability. We need to discuss whether liver involvement could be the initial signs in patients with GD type 3c.

Objectives: We aim to evaluate our initial experience with the HeartMate 3 (HM3) device (Abbott, USA) for palliating pediatric patients with end−stage heart failure (ESHF).Methods: We conducted a retrospective review of clinical data from pediatric patients (aged 7–18 years) who underwent HM3 implantation for ESHF at our institution between 2022 and 2024. Patient demographics and follow−up data were comprehensively analyzed.Results: We identified 11 patients (45% males) with a median age of 14 years (IQR 11–17), a median weight of 47 kg (IQR 28–50), a median height of 159 cm (IQR 135–165), and a median body surface area of 1.36 m² (IQR 1.07–1.53) at the time of the intervention. All patients were diagnosed with dilated cardiomyopathy and categorized with PEDIMACS profiles ranging from one to three. The median ICU stay was 14 days (IQR 6–32), with 11 patients receiving inotropic support for a median of four postoperative days (IQR 3–8). The median follow−up period was 150 days (IQR 90–210). Early complications included two cases of pleural effusion, 1 case of cardiac tamponade, 3 cases of polyuria, and one instance of positive blood cultures. One patient, who was non−compliant with warfarin therapy, developed a thrombus in the right atrium that was resolved with a revision of anticoagulant therapy, and did not experience pump thrombosis. During follow−up, one patient died after 28 days from sepsis, one underwent heart transplantation after 10 days, and nine patients remained alive on the device. Notably, there were no reported cases of pump thrombosis, ischemia, or stroke post− implantation.Conclusions: The HM3 device appears to be a safe and effective palliative option for pediatric patients with ESHF.

Heart failure in children is a clinical and pathophysiological syndrome arising from ventricular dysfunction and pressure or volume overload of the circulatory system. Features of paediatric heart failure include feeding problems, poor weight gain, exercise intolerance, or dyspnoea. The aetiology of heart failure in children is complex, with the primary causes being CHD and cardiomyopathies. Cardiomyopathies occur at an incidence of 1.13–1.24 cases per 100,000 children. The prevalence of cardiomyopathy is estimated to be 7.8–8.3 cases per 100,000 infants, particularly common in patients under one year of age presenting with severe heart failure symptoms. Mitral valve insufficiency is a significant source of morbidity in children with dilated cardiomyopathy. Severe mitral insufficiency can lead to a decrease in cardiac output, independent of the left ventricular ejection fraction, exacerbating the clinical course of heart failure in patients with dilated cardiomyopathy. As ventricular systolic function deteriorates, the options for treating mitral insufficiency decrease, leading to a loss of surgical intervention opportunities and making heart transplantation the only viable option. Close monitoring of mitral valve insufficiency in children with dilated cardiomyopathy is essential, as it may lead to decompensated heart failure. In patients who have lost the chance for valve surgery due to decompensation, the application of left ventricular assist device can help improve the decompensatory state and contribute to the reduction of left ventricular diastolic and systolic dimensions, consequently leading to improvements in the dilation of the mitral annulus and severe mitral insufficiency findings. Further studies are needed to determine the optimal timing for surgery in patients who have not missed the chance for valve surgery due to a decrease in ejection fraction.

Purpose: Transcatheter closure is the first-line treatment option for hemodynamically significant secundum atrial septal defects (ASDs). This study examines our center’s experience with this procedure over the last 15 years. Materials and methods: Pediatric patients aged 0-18 years with secundum ASDs who were planned for transcatheter closure in our clinic between January 2007 and January 2023 were retrospectively evaluated. Results: Transcatheter secundum ASD closure was planned for a total of 334 patients during the study period: 191 girls (57.2%) and 143 boys (42.8%). Their mean age was 8.08±3.9 years, and their mean weight was 30±15.6 kg. Defect diameter measured transesophageally ranged from 5 to 35 mm, with a mean of 12.56±4.02 mm. Transesophageal echocardiographic examination revealed a single secundum ASD in 319 patients (95.5%) and multiple secundum ASDs in 15 patients (4.5%). In 11 patients (3.3%), the procedure was terminated before initiating transcatheter ASD closure because of insufficient vena cava rims or a very large or multi-fenestrated defect. The 323 patients (96.7%) who underwent transcatheter ASD closure had a mean pulmonary artery pressure of 15.1±4.0 mmHg and a mean Qp/Qs ratio of 1.97±0.56. The procedure failed in four patients (1.3%) because of device embolization (n=2) or the inability to properly position the device (n=2). Major complications other than device embolization observed during or after transcatheter closure included anesthetic-induced respiratory depression (n=1) and total atelectasis of the lung (n=1). No new major complications were detected during the patients’ long-term follow-up. Conclusion: With appropriate patient and device selection, transcatheter closure is a safe and effective treatment for secundum ASD and should be the first treatment of choice.