RESUMO
Brugada syndrome (BS) is an autosomal dominant inheritance cardiac arrhythmia disorder associated with sudden death in young adults. Thailand has the highest prevalence of BS worldwide, and over 60% of patients with BS still have unclear disease etiology. Here, we performeda new viral metagenome analysis pipeline called VIRIN and validated it with whole genome sequencing (WGS) data of HeLa cell lines and hepatocellular carcinoma. Then the VIRIN pipelinewas applied to identify viral integration positions from unmapped WGS data of Thai males, including 100 BS patients (case) and 100 controls. Even though the sample preparation had noviral enrichment step, we can identify several virus genes from our analysis pipeline. The predominance of human endogenous retrovirus K (HERV-K) viruses was found in both cases andcontrols by blastn and blastx analysis. This study is the first report on the full-length HERV-Kassembled genomes in the Thai population. Furthermore, the HERV-K integration breakpointpositions were validated and compared between the case and control datasets. Interestingly,Brugada cases contained HERV-K integration breakpoints at promoters five times more oftenthan controls. Overall, the highlight of this study is the BS-specific HERV-K breakpoint positionsthat were found at the gene coding region "NBPF11" (n = 9), "NBPF12" (n = 8) and longnon-coding RNA (lncRNA) "PCAT14" (n = 4) region. The genes and the lncRNA have been reported to be associated with congenital heart and arterial diseases. These findings provide another aspect of the BS etiology associated with viral genome integrations within the humangenome.
RESUMO
Background: The Norwood procedure is often performed to treat hypoplastic left heart syndrome (HLHS). Only Blalock-Taussig (BT) shunt is used with the Norwood procedure in our institute.Objective: To analyze the first-stage palliation for HLHS.Patients and methods: The Norwood procedure with right modified BT shunt was performed in 26 patients with HLHS between August 1996 and November 2008. The first four patients were performed using only autologous great vessel tissue (group 1), and the other 22 patients were operated with the Norwood procedure using a homograft for arch reconstruction (group 2).Results: The hospital mortality was 50.0 % in group 1 and 18.2% in group 2. The overall hospital mortality was 23.1%. Four out of twenty survivors (20%) had the modified Fontan procedure.Conclusion: Only a limited number of pediatric cardiac centers offered surgical treatment of the hypoplastic left heart syndrome. The survival rate in our study was in acceptable range despite the limited resource.