ReviewCongenital heart disease2016
Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.
Review in Congenital heart disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 103 citations in OpenAlex.
- Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.Nature genetics · 2018Pooled it
- Delayed Diagnosis of Congenital Heart Diseases in Adults: Opportunities for Improving Diagnostic Strategies.Journal of cardiovascular development and disease · 2026Review
- NKX2-5 Mutation and ICD Implantation in a Pregnant AV Block Patient.JACC. Case reports · 2025Article
- Atrial Septal Defect and Heart Rhythm Disorders: Physiopathological Linkage and Clinical Perspectives.Biomedicines · 2025Review
- Genetics of Congenital Heart Disease.Clinics in perinatology · 2025Review
- Multigenerational TRPM4 variant presenting with fetal atrioventricular block and atrial arrhythmias.HeartRhythm case reports · 2025Article
- Esketamine induces embryonic and cardiac malformation through regulating the nkx2.5 and gata4 in zebrafish.Scientific reports · 2025Article
- Article
- Case Report: The nonsense variation of the cardiac transcription factorFrontiers in genetics · 2025Article
- A Novel Missense Heterozygous Mutation inJournal of pediatric genetics · 2024Article
- Sudden Death in Pediatric Patient With Dilated Cardiomyopathy Due to Founder Variant inAcademic forensic pathology · 2024Article
- Reduced connexin-43 expression, slow conduction and repolarisation dispersion in a model of hypertrophic cardiomyopathy.Disease models & mechanisms · 2024Article
- Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1.Current cardiology reports · 2024Review
- Human Genetics of Atrial Septal Defect.Advances in experimental medicine and biology · 2024Review
- Arrhythmic Risk and Treatment after Transcatheter Atrial Septal Defect Closure.Diagnostics (Basel, Switzerland) · 2023Review
- Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.CJC pediatric and congenital heart disease · 2023Review
- Crochetage, the Forgotten Electrocardiographic Sign.Cureus · 2023Article
- Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.Genes · 2023Review
- Nr2f1a maintains atrialeLife · 2023Article
- Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAtrial septal defect (ASD) is the second most common congenital heart defect (CHD) and is observed in families as an autosomal dominant trait as well as in nonfamilial CHD. Mutations in the NKX2-5 gene, located on chromosome 5, are associated with ASD, often combined with conduction disturbances, cardiomyopathies, complex CHD, and sudden cardiac death as well. Here, we show that NKX2-5 mutations primarily occur in ASD patients with conduction disturbances and heritable ASD. Furthermore, these families are at increased risk of sudden cardiac death.
resultsWe screened 39 probands with familial CHD for mutations in NKX2-5 and discovered a novel mutation in one family (2.5%) with ASD and atrioventricular block. A review of the literature revealed 59 different NKX2-5 mutations in 202 patients. Mutations were significantly more common in familial cases compared to nonfamilial cases (P = 7.1 × 10(-9) ). The majority of patients (74%) had ASD with conduction disturbance. Nineteen patients (15%) of 120 with familial ASD and conduction disturbance died from sudden cardiac death of which nine (8%) were confirmed mutation carriers, and 10 were possible carriers.
conclusionsNKX2-5 mutations mainly occur in familial CHD, the signature phenotype is ASD with conduction disturbances and mutation carriers are at increased risk of sudden cardiac death. We suggest that familial ASD patients should be screened for NKX2-5 mutations and, if they are mutation carriers, implantation of an implantable cardioverter-defibrillator should be considered in these patients.
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