scholarly journals GATA transcription factors in congenital heart defects: A Commentary on a novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

2010 ◽  
Vol 55 (10) ◽  
pp. 637-638 ◽  
Author(s):  
Kazuki Kodo ◽  
Hiroyuki Yamagishi
Keyword(s):  
Transcription Factors ◽  
Atrial Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Gata Transcription Factors

scholarly journals Pattern and frequency of pediatric congenital heart disease at the Cardiac Research Institute of Kabul Medical University, Afghanistan

2018 ◽  
Vol 58 (3) ◽  
pp. 106-9
Author(s):  
Abdul Muhib Sharifi
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Cardiac Lesions ◽  
Medical University ◽  
Research Institute

Background Congenital heart disease (CHD) is the most common birth defect, with incidence of 0.7-0.9 live birth; it increases to 2-6% if first degree relative is affected. In Afghanistan majority of births take place at home and routine screening of neonates is not common, so true birth prevalence of CHD cannot be possibly calculated. Therefore, true prevalence of CHD in our population is unknown. Objective To verify the current pattern and frequency distribution of congenital heart disease (CHD) at the Cardiac Research Institute of Kabul Medical University. Methods  This retrospective study was conducted in children aged 0-14 years, who underwent echocardiography for possible congenital heart disease from January 2015 to December 2016. Results  Of 560 patients who underwent echocardiography, 392(70%) had cardiac lesions. Congenital cardiac lesions were found in 235 (60% of those with lesions) patients, while 157 (40%) patients had rheumatic heart disease. Patients with CHD were further subdivided into acyanotic and cyanotic groups. The majority of acyanotic group had isolated atrial septal defect (55%) while the most common lesion in the cyanotic group was Tetralogy of Fallot (42%). Conclusion Congenital heart defects are the most common heart disease in the pediatric population presenting at the Cardiac Research Institute of Kabul Medical University. Atrial septal defect (ASD) was the most common acyanotic defect, while Tetralogy of Fallot (ToF) is the most common cyanotic defect.

Atrial Septal Stent Implant: Atrial Septal Defect Creation in the Management of Complex Congenital Heart Defects in Infants

2006 ◽  
Vol 1 (3) ◽  
pp. 129-135 ◽  
Author(s):  
Glenn T. Leonard ◽  
Henri Justino ◽  
Karina M. Carlson ◽  
Joseph W. Rossano ◽  
Steven R. Neish ◽  
...  
Keyword(s):  
Atrial Septal Defect ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Defect Creation

scholarly journals The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients

2019 ◽  
Vol 65 (6) ◽  
pp. 786-790
Author(s):  
Han-Quan Dong ◽  
Yue-Xin Du
Keyword(s):  
Ventricular Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Copy Number ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Copy Number Variations ◽  
Chinese Han ◽  
Han Population

SUMMARY OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population. RESULTS: One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls. CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.

scholarly journals PREVALENCE OF CONGENITAL HEART DISEASE IN UMERKOT

2021 ◽  
Vol 70 (Suppl-4) ◽  
pp. S824-27
Author(s):  
Mohsin Saif ◽  
Abdul Fatah ◽  
Waqas Akhtar ◽  
Farah Javed ◽  
Ali Mujtaba Tahir ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Cross Sectional ◽  
Male Preponderance

Objective: To study the prevalence and the pattern of distribution of congenital heart disease.Study Design: Descriptive cross-sectional study.Place and Duration of Study: The study was conducted at outpatient department (OPD) of CMH Chhor and DHQ Umerkot, Sindh (Pakistan), from Dec 2019 to Mar 2020.Methodology: All the children (<12 years age) presenting to Paediatric OPD of the two hospitals were enrolled into study. Any patient with either a history or clinical examination pointing towards a suspected congenital heart disease was referred to Paediatric Cardiologist for 2-D echocardiogram. Details of the patient were recorded on designated proforma. Results: A total of 273 patients were diagnosed with congenital heart disease. Out of these, 114 (41.7%) were female and 159 (58.2%) were male (male: female of 1.4:1). The age of the children was ranging from 2 months to 12 years, 153 (56.04%) had simple heart defects, while 120 (43.9%) had complex or multiple congenital heart anomalies. Amongst the 273 patients, 25.3% were cyanotic and 74.7% had acyanotic heart disease. Most common lesion identified was ventricular septal defect (29.6%), followed by Tetralogy of Fallot in 20.8%. Conclusion: Acyanotic heart defects confirms to the major bulk of congenital heart defects with male preponderance.

scholarly journals Secundum Type Atrial Septal Defect in Patients with Trisomy 21—Therapeutic Strategies, Outcome, and Survival: A Nationwide Study of the German National Registry for Congenital Heart Defects

2021 ◽  
Vol 10 (17) ◽  
pp. 3807
Author(s):  
Astrid E. Lammers ◽  
Julia Stegger ◽  
Marc-André Koerten ◽  
Paul C. Helm ◽  
Ulrike M. Bauer ◽  
...  
Keyword(s):  
Atrial Septal Defect ◽  
Congenital Heart Defects ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Normal Population ◽  
Preschool Age ◽  
Pulmonary Vascular Disease ◽  
Asd Closure

(1) Secundum type atrial septal defect (ASD II) is usually considered a relatively benign cardiac lesion amenable to elective closure at preschool age. Patients with trisomy 21 (T21), however, are known to have a higher susceptibility for pulmonary vascular disease (PVD). Therefore, T21 children may present with clinical symptoms earlier than those without associated anomalies. In addition, early PVD may even preclude closure in selected T21 patients. (2) We performed a retrospective analysis of the German National Register for Congenital Heart Defects including T21 patients with associated isolated ASD II. We report incidence, demographics, therapeutic strategy, outcome, and survival of this cohort. (3) Of 46,628 patients included in the registry, 1549 (3.3%) had T21. Of these, 156 (49.4% female) had an isolated ASD II. Fifty-four patients (34.6%) underwent closure at 6.4 ± 9.9 years of age. Over a cumulative follow-up (FU) of 1148 patient-years, (median 7.4 years), only one patient developed Eisenmenger syndrome and five patients died. Survival of T21 patients without PVD was not statistically different to age- and gender-matched controls from the normal population (p = 0.62), whereas children with uncorrected T21/ASD II (including patients with severe PVD, in whom ASD-closure was considered contraindicated) showed a significantly higher mortality. (4) The outcome of T21-patients with ASD II and without PVD is excellent. However, PVD, either precluding ASD-closure or development of progressive PVD after ASD-closure, is associated with significant mortality in this cohort. Thus T21 patients with ASD II who fulfill general criteria for closure and without PVD should be offered defect closure analogous to patients without T21.

Determination of dynamic thiol/disulphide homeostasis in children with tetralogy of Fallot and ventricular septal defect

2019 ◽  
Vol 29 (4) ◽  
pp. 499-504
Author(s):  
Münevver T. Temel ◽  
Seniz Demiryürek ◽  
Ahmet Saracaloglu ◽  
Celal H. Ozer ◽  
Hale N. Kahraman ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Ventricular Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Total Thiol

AbstractOxidative stress may contribute to the pathogenesis of congenital heart defects, but the role of dynamic thiol/disulphide homeostasis has not been evaluated. The objective of this study was to assess whether there are changes in thiol/disulphide homeostasis and nitric oxide levels in children with tetralogy of Fallot (TOF) and ventricular septal defect (VSD). A total of 47 children with congenital heart defects (24 TOF and 23 VSD) and 47 healthy age- and sex-matched controls were included in this study. Serum total thiol and native thiol levels were measured using a novel automatic spectrophotometric method. The amount of dynamic disulphide bonds and related ratios were calculated from these values. Serum nitric oxide levels were detected using a chemiluminescence assay. We found that the average native thiol, total thiol, and disulphide levels were decreased in patients with VSD when compared with healthy individuals (p < 0.001, p < 0.001, and p < 0.01, respectively). While native thiol levels were decreased (p < 0.01), disulphide levels were elevated in the TOF group (p < 0.05). We observed marked augmentation of disulphide/native thiol (p < 0.001) and disulphide/total thiol ratios (p < 0.01) in the TOF group. However, there was a significant decrease in native thiol/total thiol ratio in patients with TOF. No significant changes in these ratios were noted in the VSD group. We detected significant elevations in serum nitric oxide levels in children with TOF and VSD (p < 0.001 for all). These results are the first to demonstrate that thiol/disulphide homeostasis and nitric oxide are associated with TOF and VSD in children.

An unusual case of tetralogy of Fallot with an absent pulmonary valve associated with a retro-aortic innominate vein in a patient with a 16p12.2 microdeletion

2021 ◽  
pp. 1-2
Author(s):  
Niall Linnane ◽  
Andrew Green ◽  
Colin J. McMahon
Keyword(s):  
Aortic Arch ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Unusual Case ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Innominate Vein ◽  
Absent Pulmonary Valve ◽  
Rare Association

Abstract 16p12.2 microdeletion has been associated with congenital heart defects and developmental delay. In this case, we describe the rare association between tetralogy of Fallot with an absent pulmonary valve a right-sided aortic arch and a retro-aortic innominate vein associated with a 16p12.2 microdeletion and epilepsy.

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