Search

Background: The alternative device to close perimembranous ventricular septal defect (pmVSD) has been searched for better result, less complications and applicable for infants. However, the ideal device is still unavailable. We aimed to evaluate the effectiveness and outcome of transcatheter pmVSD closure using the KONAR-multi functional occluder (MFO). Methods: Clinical, procedural, follow-up data of pmVSD patients with symptom of heart failure or evidence of significant left to right shunt, growth failure, recurrent respiratory tract infection, and history of endocarditis who underwent transcatheter closure using the MFO were prospectively evaluated. Results: Between January 2016 and December 2017, there were complete records of 132 pmVSD children closed using MFO from eleven centers in Indonesia. The median of age was 4.5 (0.3–17.4) years; weight 14.8 (3.5–57) kg, defect size at the smallest part 3.4 (1.0–8.1) mm, flow ratio 1.6 (1.3–4.9), mean pulmonary artery pressure 18 (7–79) mmHg, fluoroscopy time 18 (3.8–91) and procedural time 75 (26–290) minutes. A retrograde approach was done in 41 (31%) patients. Procedures succeeded in first attempt in 126 (95.4%), failed in three and migration in three patients. Six of eight infants with congestive heart failure were closed successfully. Of 126 patients with successful VSD closure, 12 months follow-up were completed in all patients. The rate of complete occlusion at 1 month, 3 months, 6 months and 12 months after intervention were 95.2%, 97.6%, 99.2%, and 99.2%, respectively. New-onset aortic regurgitation and moderate tricuspid regurgitation developed only in five and three patients. Neither complete atrioventricular block, nor other complications occurred. Conclusion: Transcatheter closure of pmVSD using the MFO is safe, effective, and feasible in infants and children.

Abstract Background Neonatal jaundice is a common finding in newborns in Asia, including Indonesia. In some cases, the serum total bilirubin levels exceeds the 95th percentile for hours of life (neonatal hyperbilirubinemia). Severe neonatal hyperbilirubinemia (NH) could lead to kernicterus and neonatal death. Glucose-6-Phosphage Dehydrogenase (G6PD) genetic variations and deficiency have been reported in several studies to be associated with NH. This study aimed to analyze the G6PD genetic variations and its activity in neonates with and without hyperbilirubinemia in the Deutromalay Indonesian population. Methods Deoxyribose Nucleic Acid (DNA) was isolated from peripheral blood of 116 and 115 healthy term neonates with and without hyperbilirubinemia. All infants underwent the following laboratory examinations: routine hematologic evaluation, Coombs test, G6PD activity measurement using the Randox kit method, and serum total bilirubin level. All exons of the G6PD gene were targeted for deep sequencing using MiSeq (Illumina). An association study of G6PD polymorphisms with NH was performed using PLINK. Results The prevalence of G6PD deficiency in neonates with and without hyperbilirubinemia in Indonesian Deutromalay population were 1.72% (95% Confidence Interval (CI): 0.6–4.1%) and 1.74% (95% CI: 0.7–4.1%), respectively. The most common G6PD polymorphisms, i.e. rs1050757/c.* + 357A > G, rs2230037/c.1311C > T, and rs2071429/c.1365-13 T/IVS11, were identified. However, none of those polymorphisms and their haplotype were associated with NH (p > 0.05, Odds Ratio (OR) ~1.00). The prevalence of G6PD mutations in neonates with and without hyperbilirubinemia were 6.8% (95% CI: 2.3–11.5%) and 6.9% (95% CI: 2.3–11.6%), respectively. The most frequently identified G6PD mutation was the Viangchan variant (p.V291 M), which was followed by the Canton (p.R459L) and Vanua Lava (p.L128P) variants. Two novel mutations were identified both in case (p.V369A, p.I167F) and control (p.L474=, p.I36T) groups. Conclusion The prevalence of G6PD deficiency is low in neonates with or without hyperbilirubinemia in Deutromalay Indonesian population. The majority of G6PD mutations identified among Indonesian Deutromalay population in this study are Viangchan, Canton and Vanua Lava variants.