ArticleCirculation journal : official journal of the Japanese Circulation Society2016
Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome.
Article in Circulation journal : official journal of the Japanese Circulation Society, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 27 citations in OpenAlex.
- Genetic Basis of Brugada Syndrome.Biomedicines · 2025Review
- The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.Journal of cardiovascular development and disease · 2025Review
- Molecular Pathways and Animal Models of Arrhythmias.Advances in experimental medicine and biology · 2024Article
- Deep learning unmasks the ECG signature of Brugada syndrome.PNAS nexus · 2023Article
- Variants inGenes · 2021Article
- Role of Provocable Brugada ECG Pattern in The Correct Risk Stratification for Major Arrhythmic Events.Journal of clinical medicine · 2021Review
- Brugada Syndrome: Warning of a Systemic Condition?Frontiers in cardiovascular medicine · 2021Review
- The Mechanism of Ajmaline and Thus Brugada Syndrome: Not Only the Sodium Channel!Frontiers in cardiovascular medicine · 2021Review
- Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification.Frontiers in cardiovascular medicine · 2021Article
- Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.PLoS genetics · 2020Article
- Brugada Syndrome: Oligogenic or Mendelian Disease?International journal of molecular sciences · 2020Review
- Green tea extract catechin improves cardiac function in pediatric cardiomyopathy patients with diastolic dysfunction.Journal of biomedical science · 2019Article
- Epicardial ablation in genetic cardiomyopathies: a new frontier.European heart journal supplements : journal of the European Society of Cardiology · 2019Article
- Calcium in Brugada Syndrome: Questions for Future Research.Frontiers in physiology · 2018Review
- Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.International journal of molecular medicine · 2017Article
- Commentary: Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome.Frontiers in physiology · 2017Article
- A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study.Frontiers in genetics · 2016Article
- Genomic-based diagnosis of arrhythmia disease in a personalized medicine era.Expert review of precision medicine and drug development · 2016Article
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11 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited disorder; mutations in at least 20 genes have been associated. Brugada syndrome (BrS) is an autosomal dominant inherited disorder caused by mutations mainly in theSCN5Agene. A new clinical entity that consists of HCM, typical electrical instability of BrS and sudden death (SD), is described. METHODS AND
resultsThe family was constituted by 7 members, 4 of who presented clinical features of HCM and electrical instability of BrS. The clinical presentation of proband was ventricular fibrillation. All members were clinically evaluated by physical examination, 12-lead electrocardiography, 2-dimensional echocardiography, stress test, electrocardiogram Holter, flecainide test, and electrophysiological study. An integrated linkage analysis and next generation sequencing (NGS) approach was used to identify the causative mutation. Linkage with the α-tropomyosin (TPM1) gene on chromosome 15q22 was identified. The NGS study identified a missense mutation within theTPM1gene (c.574G>A; p.E192K), exactly located in a binding domain with polycystin-2 protein. No other pathogenic mutations were identified.
conclusionsThis is the first report of an association between HCM and BrS, and the first to use a combined approach of linkage and NGS to identify a causative mutation in SD. The present study expands the clinical spectrum of disorders associated with theTPM1gene and may be useful to report novel mechanisms of electrical instability in HCM and BrS.
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