congenital heart disease
SaudiVarKB evidence summary derived from retained literature mentions.
363Phenotype mentions
100Publications
50Associated gene records
17Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| ACE | HGNC:2707 | 2 | 2 |
| HOXA1 | HGNC:5099 | 2 | 2 |
| GATA4 | HGNC:4173 | 2 | 2 |
| G6PC3 | HGNC:24861 | 2 | 2 |
| PRKD1 | HGNC:9407 | 2 | 2 |
| PAH | HGNC:8582 | 1 | 1 |
| GFAP | HGNC:4235 | 1 | 1 |
| TGFBR1 | HGNC:11772 | 1 | 1 |
| TBX1 | HGNC:11592 | 1 | 1 |
| NUP188 | HGNC:17859 | 1 | 1 |
| VEGFA | HGNC:12680 | 1 | 1 |
| ABL1 | HGNC:76 | 1 | 1 |
| FLNA | HGNC:3754 | 1 | 1 |
| RSPH9 | HGNC:21057 | 1 | 1 |
| NOTCH2 | HGNC:7882 | 1 | 1 |
| JAG1 | HGNC:6188 | 1 | 1 |
| FRA10AC1 | HGNC:1162 | 1 | 1 |
| MPL | HGNC:7217 | 1 | 1 |
| NOTCH1 | HGNC:7881 | 1 | 1 |
| KCNH2 | HGNC:6251 | 1 | 1 |
| CHD7 | HGNC:20626 | 1 | 1 |
| GATA3 | HGNC:4172 | 1 | 1 |
| ENG | HGNC:3349 | 1 | 1 |
| GUSB | HGNC:4696 | 1 | 1 |
| SALL4 | HGNC:15924 | 1 | 1 |
| CHN1 | HGNC:1943 | 1 | 1 |
| KIF21A | HGNC:19349 | 1 | 1 |
| EPAS1 | HGNC:3374 | 1 | 1 |
| TBC1D32 | HGNC:21485 | 1 | 1 |
| SCLT1 | HGNC:26406 | 1 | 1 |
| LRP1 | HGNC:6692 | 1 | 1 |
| C12orf57 | HGNC:29521 | 1 | 1 |
| FGF13 | HGNC:3670 | 1 | 1 |
| NPHP1 | HGNC:7905 | 1 | 1 |
| HAPLN1 | HGNC:2380 | 1 | 1 |
| LST1 | HGNC:14189 | 1 | 1 |
| NRP1 | HGNC:8004 | 1 | 1 |
| ASXL2 | HGNC:23805 | 1 | 1 |
| MYH6 | HGNC:7576 | 1 | 1 |
| KANSL1 | HGNC:24565 | 1 | 1 |
| NR3C1 | HGNC:7978 | 1 | 1 |
| VANGL2 | HGNC:15511 | 1 | 1 |
| APCDD1 | HGNC:15718 | 1 | 1 |
| SCARF2 | HGNC:19869 | 1 | 1 |
| ANKS3 | HGNC:29422 | 1 | 1 |
| PLCB1 | HGNC:15917 | 1 | 1 |
| PRDM1 | HGNC:9346 | 1 | 1 |
| TLL1 | HGNC:11843 | 1 | 1 |
| NODAL | HGNC:7865 | 1 | 1 |
| GPATCH1 | HGNC:24658 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| 2A>C | 2A>C | 1 | 1 |
| c.169_171del | c.169_171del | 1 | 1 |
| c.1A>G | c.1A>G | 1 | 1 |
| -3148C>G | -3148C>G | 1 | 1 |
| rs4808793 | rs4808793 | 1 | 1 |
| c.1127A>G | c.1127A>G | 1 | 1 |
| F184S | F184S | 1 | 1 |
| c.551T>C | c.551T>C | 1 | 1 |
| p.Phe184Ser | p.Phe184Ser | 1 | 1 |
| p.R398C | p.R398C | 1 | 1 |
| p.R398H | p.R398H | 1 | 1 |
| p.Arg169His | p.Arg169His | 1 | 1 |
| p.Glu465Ala | p.Glu465Ala | 1 | 1 |
| p.Arg135Trp | p.Arg135Trp | 1 | 1 |
| c.265-1G>T | c.265-1G>T | 1 | 1 |
| p.Leu325Arg | p.Leu325Arg | 1 | 1 |
| c.1379-2A>G | c.1379-2A>G | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2026A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient.American journal of medical genetics. Part A1 mentions
- 2026First Reported Case of Simultaneous Transjugular Tricuspid Valve-in-Ring and Pulmonary Valve-in-Valve Implantation.JACC. Case reports1 mentions
- 2026Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.The American journal of case reports1 mentions
- 2026Prevalence of Ischemic Brain Injury in Neonates With Congenital Heart Disease: A Systematic Review and Meta-Analysis.Neurology1 mentions
- 2026National Trends and Disparities in Congenital Heart Disease Mortality in the United States, 1999-2024.Pediatric cardiology1 mentions
- 2026Pharmacist-led antiarrhythmic counseling clinic for supraventricular tachycardia in congenital heart disease patients.Pakistan journal of pharmaceutical sciences1 mentions
- 2026Triple Pulmonary Venous Drainage in an Infant with a Hypertensive Left Atrium: A Rare Anatomic Finding.Pediatric cardiology1 mentions
- 2026Lung Retransplantation after Heart-lung Transplantation: A Case Report.Transplantation proceedings1 mentions
- 2026Systematic review of mapping-based teaching strategies in pediatric nursing education: effects on learning outcomes among nurses and nursing students.BMC medical education1 mentions
- 2026Evaluating the Effectiveness of Ibuprofen Versus Acetaminophen in Closing Patent Ductus Arteriosus in Preterm Neonates.Children (Basel, Switzerland)1 mentions
- 2026Unrepaired Truncus Arteriosus Type 1 With Eisenmenger Syndrome and Recurrent Embolic Strokes: An Adult Case Report.The American journal of case reports1 mentions
- 2026Persistent Double Dorsal Aorta and Complex Congenital Heart Disease - A Case Report.Journal of the Saudi Heart Association1 mentions
- 2026Retrocardiac Innominate Vein: A Rare Vascular Anomaly Associated With Congenital Heart Disease.Journal of the Saudi Heart Association1 mentions
- 2026Pediatric Residents' Awareness and Practices Toward Critical Congenital Heart Disease Screening in Saudi Arabia: A Multicenter Study.International journal of neonatal screening1 mentions
- 2026Hybrid vision transformer framework for congenital heart disease diagnosis.Scientific reports1 mentions
- 2026Case Report--Late Presentation of Shone's Complex With Severe Left Ventricular Dysfunction.Journal of the Saudi Heart Association1 mentions
- 2026Epidemiology of pediatric invasive group A streptococcus infection in a Saudi tertiary care center.Annals of Saudi medicine1 mentions
- 2026Case Series: clinical challenges in pediatric plastic bronchitis.Frontiers in pediatrics1 mentions
- 2026Oral Health in Children With Congenital Heart Diseases: A Comprehensive Narrative Review.Clinical medicine insights. Pediatrics1 mentions
- 2026Jagged-1 mutation is associated with congenital heart defects: a case report.Journal of medical case reports1 mentions
- 2026Hypoxemia Following Surgical Repair of Partial Anomalous Pulmonary Venous Connection With Interrupted Inferior Vena Cava:Insights From Cardiac CT.Journal of the Saudi Heart Association1 mentions
- 2026Congenital heart disease diagnosis using machine learning: a systematic literature review.Frontiers in medicine1 mentions
- 2026Pediatric Cardiac Imaging With Second- and Third-generation Dual Source CT Scanners: Radiation Dose, and Diagnostic Accuracy in Comparison With Echocardiography and MRI-A Systematic Review and Meta-analysis.Journal of the Saudi Heart Association1 mentions
- 2026Critical Pertussis in the PICU: Multinational Study in the Gulf Cooperation Council Region, 2022-2024.Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies1 mentions
- 2026A masked generative graph representation learning framework empowering precise spatial domain identification.Bioinformatics (Oxford, England)1 mentions
- 2026Circulating levels of growth differentiation factor-15 and its genetic variants -3148C>G (rs4808793) in pediatric cardiac patients.World journal of clinical pediatrics1 mentions
- 2026Risk Factors and Outcomes of Acute Kidney Injury in Children With Congenital Heart Disease Following Cardiac Surgery.Saudi medical journal1 mentions
- 2026The International Thoracic Organ Transplant Registry of the International Society for Heart and Lung Transplantation: 2026 Adult Heart Transplantation: A Contemporary Analysis of Trends and Outcomes by Recipient Sex.The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation1 mentions
- 2026Perinatal outcomes among pregnant women with cardiac disease at tertiary care hospital, Riyadh, Saudi Arabia.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians1 mentions
- 2026Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.American journal of medical genetics. Part A1 mentions
- 2026Isolated absent pulmonary valve syndrome with intact ventricular septum in a child with CHARGE syndrome: a rare case report and review of the literature.Frontiers in cardiovascular medicine1 mentions
- 2025Clinical and epidemiological characteristics of respiratory syncytial virus, SARS-CoV-2 and influenza paediatric viral respiratory infections in southwest Saudi Arabia.Annals of medicine1 mentions
- 2025Anthropometric and Sociodemographic Correlates of Dental Caries and Gingival Health in Children With Special Healthcare Needs at a Saudi Tertiary Care Hospital.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry1 mentions
- 2025Immediate and Intermediate-Term Outcomes of Infants With Transposition of Great Arteries Who Underwent Balloon Atrial Septostomy in Sudan.Global heart1 mentions
- 2025Fetal cardiac function in pregnancy affected by congenital heart disease: protocol for a multicentre prospective cohort study.BMC pregnancy and childbirth1 mentions
- 2025Enhancing pediatric congenital heart disease detection using customized 1D CNN algorithm and phonocardiogram signals.Heliyon1 mentions
- 2025The Usefulness of 3D Heart Models as a Tool of Congenital Heart Disease Education: A Narrative Review.Journal of the Saudi Heart Association1 mentions
- 2025Pediatric and Congenital Cardiac Services: An Innovative and Empowering Approach to Global Training and Equitable Care.Journal of the American Heart Association1 mentions
- 2025Patterns of malnutrition in infants and children with congenital heart diseases, an experience of a large tertiary hospital.Nutrition and health1 mentions
- 2025Characterization of emergency department visits in pediatric patients within first year of liver transplantation: ten years experience in tertiary care center.BMC emergency medicine1 mentions
- 2025Congenitally corrected transposition of the great arteries and coronary artery disease: a case report in an 83-year-old male.European heart journal. Case reports1 mentions
- 2025Improving the quality of care of respiratory syncytial virus in the neonatal and pediatric populations globally.Frontiers in pediatrics1 mentions
- 2025"Letter to the editor: Risk and predictors of first-time infective endocarditis in adult patients with congenital heart disease: A nationwide, register-based study".International journal of cardiology1 mentions
- 2025Successful management of a pediatric cardiac patient with Bombay blood group and leukocyte adhesion deficiency type II: A case report and literature review.Saudi journal of anaesthesia1 mentions
- 2025Shashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia.BMJ case reports1 mentions
- 2025Oxygenation indices and echocardiographic markers of pulmonary hypertension and ventricular dysfunction in congenital diaphragmatic hernia.BMJ paediatrics open1 mentions
- 2025Triple drainage of partial anomalous pulmonary vein: A rare anomaly.Annals of pediatric cardiology1 mentions
- 2025Patterns and Clinical Outcomes of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants.Cureus1 mentions
- 2025Tetralogy of Fallot with absent pulmonary valve: A single center retrospective review.Annals of pediatric cardiology1 mentions
- 2025Cardiovascular Anomalies Associated With Esophageal Atresia: A 23-Year Single-Center Experience.Cureus1 mentions
- 2025Anesthetic implications of elective cesarean section in a parturient with Noonan syndrome and complex cardiomyopathy: A case report.Saudi journal of anaesthesia1 mentions
- 2025Epidemiology of pediatric Acinetobacter spp bacteremia at a tertiary care center in Riyadh, Saudi Arabia.Annals of Saudi medicine1 mentions
- 2025Echocardiographic Findings in Infants of Diabetic Mothers.Cureus1 mentions
- 2025Challenges Faced by Healthcare Professionals in Screening Newborns for Congenital Heart Defects in Pakistan.International journal of neonatal screening1 mentions
- 2025Evolution of Surgical Management in Tetralogy of Fallot: A Historical and Contemporary Review.Heart views : the official journal of the Gulf Heart Association1 mentions
- 2025Prevalence and Correlates of Depression and Anxiety in Adult Congenital Heart Disease Patients in Riyadh, Saudi Arabia.International journal of psychiatry in medicine1 mentions
- 2025Occiput-to-C4 fixation skipping C3 in a pediatric Down syndrome patient with atlantoaxial subluxation and basilar invagination: A case report.Surgical neurology international1 mentions
- 2025Severe mitral stenosis as a cause of paradoxical low-flow, low-gradient severe aortic stenosis: an explorative study on hemodynamics and outcomes.Frontiers in cardiovascular medicine1 mentions
- 2025Aortic recoarctation among infants: risk factors and the significance of catheter-based intervention in the treatment.Journal of cardiothoracic surgery1 mentions
- 2025Exploring Breastfeeding Practices and Obstacles Among Mothers With and Without Congenital Heart Disease.Healthcare (Basel, Switzerland)1 mentions
- 2025Transcatheter Pulmonary Valve Replacement (TPVR): A Saudi Consensus Statement.Journal of the Saudi Heart Association1 mentions
- 2025A Rare Case Report of Central Retinal Artery Occlusion in a Young Female Post-Fontan Procedure: Clinical Implications and Management.Journal of current ophthalmology1 mentions
- 2024Postcardiotomy extracorporeal membrane oxygenation in patients with congenital heart disease; the effect of place of initiation.Perfusion1 mentions
- 2024Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.Human molecular genetics1 mentions
- 2024Outcomes of transcatheter pulmonary SAPIEN 3 valve implantation: an international registry.European heart journal1 mentions
- 2024Rationale and design of the CONFIRM2 (Quantitative COroNary CT Angiography Evaluation For Evaluation of Clinical Outcomes: An InteRnational, Multicenter Registry) study.Journal of cardiovascular computed tomography1 mentions
- 2024Determinants of childbearing intentions among pregnant women with a suspected fetal congenital heart disease.Midwifery1 mentions
- 2024Association of European Paediatric and Congenital Cardiology practical recommendations for surveillance and prevention of cardiac disease in childhood cancer survivors: the importance of physical activity and lifestyle changes From the Association of European Paediatric and Congenital Cardiology Working Group Sports Cardiology, Physical Activity and Prevention, Working Group Adult Congenital Heart Disease, Working Group Imaging and Working Group Heart Failure.Cardiology in the young1 mentions
- 2024Children's behavioural and emotional reactions towards living with congenital heart disease in Saudi Arabia: A grounded theory study.Health expectations : an international journal of public participation in health care and health policy1 mentions
- 2024Prevalence of spinal deformity development after surgical management of a congenital heart disease among children: a systematic review and meta-analysis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society1 mentions
- 2024Plasma Neutrophil Gelatinase-Associated Lipocalin (2-0) Index: A Precise and Sensitive Predictor of Acute Kidney Injury in Children Undergoing Cardiopulmonary Bypass.Indian pediatrics1 mentions
- 2024Evolving Epidemiology of Pediatric Respiratory Syncytial Virus (RSV) Cases Around COVID-19 Pandemic: Impact and Clinical Insights, Retrospective Cohort Study.Journal of epidemiology and global health1 mentions
- 2024Intracranial Pressure and Cerebral Hemodynamics in Infants Before and After Glenn Procedure.Critical care explorations1 mentions
- 2024Assessment of Knowledge, Attitudes, and Practices Regarding Non-Inherited Risk Factors for Congenital Heart Disease Among Mothers in Al-Baha City, Saudi Arabia: A Cross-Sectional Study.Cureus1 mentions
- 2024Current genetic models for studying congenital heart diseases: Advantages and disadvantages.Bioinformation1 mentions
- 2024Left Ventricular Non-compaction Cardiomyopathy: A Report of a Rare Case From Saudi Arabia.Cureus1 mentions
- 2024Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family.Heliyon1 mentions
- 2024Stress Echocardiography in the Follow-Up of Young Patients with Repaired Aortic Coarctation.Journal of clinical medicine1 mentions
- 2024Current views on the role of HIF-2α in the pathogenesis and syndromic presentation of pheochromocytoma and paraganglioma.Best practice & research. Clinical endocrinology & metabolism1 mentions
- 2024Predictive model for congenital heart disease in children of Pakistan by using structural equation modeling.BMC medical informatics and decision making1 mentions
- 2024A Review of Prolonged Mechanical Ventilation in Pediatric Cardiac Surgery Patients: Risk Factors and Implications.Journal of multidisciplinary healthcare1 mentions
- 2024Pattern and Frequency of Congenital Heart Defects Among Infants of Diabetic Mothers.Cureus1 mentions
- 2024Pediatric Three-dimensional Transesophageal Echocardiography: A Game Changer in Congenital Heart Disease.Journal of cardiovascular echography1 mentions
- 2024Prognostic Value of Normal Triglyceride Levels among Patients with Target Low-density Lipoproteins Presenting with First Acute Coronary Syndrome.Heart views : the official journal of the Gulf Heart Association1 mentions
- 2023Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.Gene1 mentions
- 2023Diagnostic accuracy of lower-dose cardiac CT in evaluating young infants with non-coronary complex congenital heart disease on a 64-slice multidetector CT scanner.Acta radiologica (Stockholm, Sweden : 1987)1 mentions
- 2023Bronchial Asthma Exacerbation in the Emergency Department in a Saudi Pediatric Population: An Insight From a Tertiary Hospital in Riyadh, Saudi Arabia.Cureus1 mentions
- 2023Quality of Life Among Down Syndrome Patients With and Without Congenital Heart Disease at King Abdulaziz University Hospital, Jeddah, Saudi Arabia.Cureus1 mentions
- 2023Down syndrome patients with normal hearts: are they really normal?Medicine1 mentions
- 2023Neurodevelopment in Children With Congenital Heart Disease: An Opportunity for the Cardiovascular Trainee.The Canadian journal of cardiology1 mentions
- 2023Brain pathology in patients with congenital heart disease.Folia neuropathologica1 mentions
- 2023A Cardiac Deep Learning Model (CDLM) to Predict and Identify the Risk Factor of Congenital Heart Disease.Diagnostics (Basel, Switzerland)1 mentions
- 2023The Awareness of Females About Risk Factors That Lead to Having a Baby With Congenital Heart Disease in Taif, Saudi Arabia.Cureus1 mentions
- 2023PR and QRS interval changes after transcatheter pulmonary valve replacement in children.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology1 mentions
- 2023Advocacy at the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery.Cardiology in the young1 mentions
- 2023Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report.Bone reports1 mentions
- 2023Percutaneous coronary stent implantation in children and young infants following surgical repair of congenital heart disease.Cardiovascular diagnosis and therapy1 mentions
- 2023Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.JIMD reports1 mentions
- 2023Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.Physiological genomics1 mentions
- 2023The Burden of Neonatal Referrals on a Pediatric Cardiology Service: A Local Center Experience.Cureus1 mentions