ArticleFrontiers in cardiovascular medicine2021
Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death.
Article in Frontiers in cardiovascular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 11 citations in OpenAlex.
- Review
- A novel NKX2-5 mutation causing atrial septal defect and high-degree atrioventricular block in a Chinese family.ESC heart failure · 2026Article
- NKX2-5 Mutation and ICD Implantation in a Pregnant AV Block Patient.JACC. Case reports · 2025Article
- Cardiac Development, Cellular Composition and Function: From Regulatory Mechanisms to Applications.Cells · 2025Review
- Identification of a novelFrontiers in cardiovascular medicine · 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
- A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?Archives of endocrinology and metabolism · 2023Article
- NKX2-5 genetic mutation in a young woman with an atrial septal defect presenting with complete heart block: ICD or bradycardia pacemaker?BMJ case reports · 2023Article
- A NovelJournal of clinical medicine · 2022Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The NKX2-5 gene encodes for a transcription factor crucial for cardiac cell differentiation and proliferation. It was the first gene associated with congenital heart disease (CHD) in humans and has been linked to conduction disorders or cardiomyopathies. However, an overlapping phenotype is not frequent in the literature. We describe a family with a novel missense mutation in the NKX2-5 gene (p.Gln181Pro) with numerous antecedents with atrial septal defect (ASD), left ventricular non-compaction (LVNC), conduction disease, and sudden cardiac death (SCD).
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