Sri Endah Rahayuningsih

Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects

We analysed the GATA binding protein 4 gene, or GATA4, along with the NK2 transcription factor related, locus 5 gene, or NKX2.5, to determine their genetic contribution to 104 sporadic patients in Indonesia with congenitally malformed hearts, 76 cases having atrial septal defect and 28 tetralogy of Fallot. We found only 1 novel mutation of GATA4 in those with atrial septal defects. Analysis of the genetic background of the parents of the patient showed for the first time that a new mutation of GATA4 can cause sporadic atrial septal defects. We failed to discover any other mutations of either the GATA4 or NKX2-5 genes, supporting the marked genetic heterogeneity of human congenital cardiac defects.

The role of curcumin as an inhibitor of oxidative stress caused by ischaemia re-perfusion injury in tetralogy of Fallot patients undergoing corrective surgery.

BACKGROUND Cardiopulmonary bypass during tetralogy of Fallot corrective surgery is associated with oxidative stress, and contributes to peri-operative problems. Curcumin has been known as a potent scavenger of reactive oxygen species, which enhances the activity of antioxidants and suppresses phosphorylation of transcription factors involved in inflamation and apoptosis. OBJECTIVES To evaluate the effects of curcumin as an antioxidant by evaluating the concentrations of malondialdehyde and glutathione, activity of nuclear factor-kappa B, c-Jun N-terminal kinase, caspase-3, and post-operative clinical outcomes. METHODS Tetralogy of Fallot patients for corrective surgery were randomised to receive curcumin (45 mg/day) or placebo orally for 14 days before surgery. Malondialdehyde and glutathione concentrations were evaluated during the pre-ischaemia, ischaemia, re-perfusion phases, and 6 hours after aortic clamping-off. Nuclear factor-kappa B, c-Jun N-terminal kinase, and caspase-3, taken from the infundibulum, were assessed during the pre-ischaemia, ischaemia, and re-perfusion phases. Haemodynamic parameters were monitored until day 5 after surgery. RESULTS In all the observation phases, malondialdehyde and glutathione concentrations were similar between groups. There was no significant difference in nuclear factor-kappa B activity between the groups for three observations; however, in the curcumin group, c-Jun N-terminal kinase significantly decreased from the pre-ischaemia to the re-perfusion phases, and caspase-3 expression was lower in the ischaemia phase. Patients in the curcumin group had lower temperature and better ventricular functions, but no significant differences were found in mechanical ventilation day or length of hospital stay in the two groups. CONCLUSION Cardioprotective effects of curcumin may include inhibition of the c-Jun N-terminal kinase pathway and caspase-3 in cardiomyocytes, particularly in the ischaemia phase.

Genetic polymorphism in postoperative sepsis after open heart surgery in infants.

Background Sepsis is one of the complications following open heart surgery. Toll-like receptor 2 and toll-interacting protein polymorphism influence the immune response after open heart surgery. This study aimed to assess the genetic distribution of toll-like receptor 2 N199N and toll-interacting protein rs5743867 polymorphism in the development of postoperative sepsis. Methods A prospective cohort study was conducted in 108 children <1-year old who underwent open heart surgery with a Basic Aristotle score ≥6. Patients with an accompanying congenital anomaly, human immunodeficiency virus infection, or history of previous open heart surgery were excluded. The patients’ nutritional status and genetic polymorphism were assessed prior to surgery. The results of genetic polymorphism were obtained through genotyping. Patients’ ages on the day of surgery and cardiopulmonary bypass times were recorded. The diagnosis of sepsis was established according to Surviving Sepsis Campaign criteria. Results Postoperative sepsis was observed in 21% of patients. There were 92.6% patients with toll-like receptor 2 N199N polymorphism and 52.8% with toll-interacting protein rs5743867 polymorphism. Conclusions Toll-like receptor 2 N199N polymorphism tends to increase the risk of sepsis (odds ratio = 1.974; 95% confidence interval: 0.23–16.92; p = 0.504), while toll-interacting protein rs5743867 polymorphism tends to decrease the risk of sepsis (odds ratio = 0.496; 95% confidence interval: 0.19–1.27; p = 0.139) in infants <1-year old undergoing complex open heart surgery.

Association between vitamin D levels and left ventricular function and NT-proBNP levels among thalassemia major children with iron overload

Background: Heart disease is the major cause of death in thalassemia patients. Repeated blood transfusions and hemolysis cause iron overload and also disrupts the hydroxylation and synthesis of vitamin D, causing vitamin D deficiency. Vitamin D deficiency is associated with cardiac dysfunction. Objective The purpose of this study was to determine the association between vitamin D levels and left ventricular function and N-terminal pro-brain natriuretic peptide (NT-proBNP) levels in thalassemia major children with iron overload. Patients and Methods: A cross-sectional study was conducted in March-April 2015 in the thalassemia clinic, Department of Child Health, Dr. Hasan Sadikin General Hospital, Bandung, Indonesia. Thirty-four children with thalassemia were enrolled consecutively. Serum vitamin D and NT-proBNP levels were measured with electrochemiluminescence (ECLIA) method and echocardiography was performed to assess ventricular function. Results: Significant correlations were found between vitamin D levels and left ventricular ejection fraction (LVEF) (r = 0.399, P = 0.019) and fractional shortening (FS) (r = 0.394, P = 0.021). There was also significant correlation between vitamin D and NT-proBNP levels (r = -0.444, P = 0.008). Chi-square analysis also showed a relationship between vitamin D and NT-proBNP (P = 0.019) levels. There was a difference in NT-proBNP levels among thalassemia major children with iron overload (P = 0.020). Post hoc analysis showed that there was a significant difference in NT-proBNP levels between those with vitamin D deficiency and those with normal vitamin D levels (P = 0.012). Conclusion: There is an association between vitamin D and left ventricular function and NT-proBNP levels in children with thalassemia major and iron overload. Vitamin D can be considered in patients with thalassemia having vitamin D deficiency.

Gambaran Fraksi Ejeksi secara Ekokardiografi pada Anak Kurang Energi Protein di RSUP Hasan Sadikin, Bandung

Sejak lama diketahui bahwa Kurang Energi Protein (KEP) berat dapat menyebabkan kelainan kardiovaskular yang dapat menimbulkan kematian. Hal ini disebabkan oleh atrofi jantung selama starvasi, tetapi masih tetap diperdebatkan mengenai kapan jantung pada anak KEP mulai menunjukkan gangguan fungsi. Tujuan dari penelitian ini adalah untuk mengetahui gambaran fraksi ejeksi (FE) ventrikel kiri anak dengan berbagai derajat KEP yang berkunjung ke Instalasi Rawat Jalan serta yang dirawat di Bagian Anak Rumah Sakit Umum Pusat (RSUP) Dr. Hasan Sadikin, Bandung. Penelitian ini bersifat deskriptif dengan rancangan cross sectional dilakukan pada bulan Desember 2000 sampai Februari 2001 dengan memeriksa FE 30 anak KEP I sampai III berdasarkan klasifikasi Waterlow, menggunakan alat ekokardiografi M-Mode. Pada penelitian ini didapatkan bahwa nilai FE sudah mulai menurun pada 73,3% anak KEP I, 90,9% anak KEP II dan menurun pada seluruh anak KEP III. Kesimpulan: fraksi ejeksi sudah mulai terganggu pada sebagian besar anak KEP I.

Terapi Nonsteroid Anti Inflammatory Drug pada Bayi Prematur dengan Duktus Arteriosus Persisten

Duktus arteriosus persisten (DAP) adalah penyakit jantung bawaan yang terjadi pada 9- 12 % dari seluruh pasien penyakit jantung bawaan. Insidens DAP lebih tinggi pada bayi prematur, keadaan ini berhubungan dengan maturitas bayi. Penutupan duktus arteriosus persisten pada bayi prematur tidak selalu memerlukan terapi bedah, tetapi dapat dengan pemberian indometasin dan ibuprofen. Penelitian penelitian yang telah dilakukan menunjukkan bahwa ibuprofen mempunyai efek samping obat lebih sedikit dibandingkan dengan indometasin, sehingga ibuprofen dapat digunakan sebagai terapi DAP pada bayi prematur

Luaran Penutupan Duktus Arteriosus Persisten Transkateter di Rumah Sakit Dr. Hasan Sadikin Bandung

Saat ini penutupan duktus arteriosus persisten (DAP) transkateter merupakan terapi pilihan karena memiliki efikasi yang baik, masa rawat yang singkat, risiko yang lebih rendah, dan bebas dari parut dada. Tujuan penelitian ini adalah mengevaluasi luaran jangka pendek dan menengah penutupan DAP transkateter. Penelitian merupakan laporan deskriptif analitik pasien yang menjalani penutupan DAP transkateter secara konsekutif di RS Dr. Hasan Sadikin Bandung selama periode Mei 2011 sampai dengan Juni 2014 dengan melakukan evaluasi pemeriksaan klinis dan ekokardiografi saat 24 jam, 1, 3, 6, dan 12 bulan setelah prosedur. Selama periode penelitian terdapat 132 pasien DAP yang menjalani penutupan transkateter, terdiri atas 42 laki-laki dan 90 perempuan, dengan median usia 3,9 tahun, berat badan 11,25 kg, tekanan sistol arteri pulmonalis 56 mmHg, ukuran defek 3,4 mm, flow ratio 2,8, fluoroscopy time 16 menit, dan procedure time 67 menit. Segera setelah prosedur 54% memperlihatkan penutupan lengkap, smoky residual 41%, dan residual ringan 6%. Sebagian besar pasien dipulangkan sehari setelah prosedur, tidak ada yang meninggal dan komplikasi hanya 3,8%. Semua pasien memperlihatkan penutupan lengkap pada follow-up. Penutupan DAP transkateter merupakan terapi yang aman dan efektif dengan masa rawat yang singkat dan komplikasi yang minimal. [MKB. 2016;48(4):234–40] Kata kunci: Duktus arteriosus persisten, penutupan transkateter Outcome of Transcatheter Occlusion of Patent Ductus Arteriosus in Dr. Hasan Sadikin General Hospital Bandung: a Preliminary Report Abstract Transcatheter closure of patent ductus arteriosus (PDA) is a treatment of choice with good efficacy, shorter hospitalization, less risks, and chest scar free. The objective of this study was to evaluate the immediate and mid-term outcomes of transcatheter closure of PDA. An analytic descriptive study was peformed on patients underwent transcatheter PDA occlusion in Dr. Hasan Sadikin General Hospital Bandung between May 2011 and June 2014. Evaluation was conducted through clinical examination and echocardiography 24 hours, 1, 3, 6 and 12 months after the procedure. The procedure was successful in 132 PDA patients (42 males and 90 females). The median age, body weight, systolic pulmonary artery pressure, PDA size, flow ratio, fluoroscopy time, and procedure time were 3.9 years, 11.25 kg, 56 mmHg, 3.4 mm, 2.8, 16 minutes, and 67 minutes, respectively. Immediately after the procedure, 54% patients had complete closure, 41% experienced smoky residual shunt and only 5% experienced small residual shunt. The mortality and complication rate was 3.8%. Most of the patients were discharged the next day after the procedure. All patients showed complete closure during followed-up. Transcatheter closure of PDA is safe and effective with shorter hospitalization and minimum complications. [MKB. 2016;48(4):234–40] Key words: Patent ductus arteriosus transcatheter closure