SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia

Yu, Jianzhong; Hu, Jianping; Dai, Xiaomeng; Cao, Qing; Xiong, Qinmei; Liu, X.; Liu, X.; Shen, Yang; Chen, Q.; Hua, Wei; Hong, Kui

doi:10.1007/s00059-013-3998-5

Cited by 28 publications

(12 citation statements)

References 26 publications

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“…Thus, for example, PKP2 (encoding plakophilin-2), is the main gene associated with AC and has been reported playing a pathogenic role in BrS [52, 53] despite additional studies in large cohorts should be performed to clarify this point [59]. In addition, alterations in SCN5A (encoding the sodium channel), the main gene associated with BrS, have been reported in 1–2% cases of DCM [60], and even AC [61]. In concordance with similar results from recent studies [62], this could suggest that a malignant arrhythmia could appear in early stage before a structural alteration is developed.…”

Section: Discussionmentioning

confidence: 99%

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

et al. 2016

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BackgroundSudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the etiology of natural deaths, younger than 50 years of age, and to investigate whether genetic defects associated with cardiac diseases could provide a potential etiology for the unexplained cases.Methods and FindingsOur cohort included a total of 789 consecutive cases (77.19% males) <50 years old (average 38.6±12.2 years old) who died suddenly from non-violent causes. A comprehensive autopsy was performed according to current forensic guidelines. During autopsy a cause of death was identified in most cases (81.1%), mainly due to cardiac alterations (56.87%). In unexplained cases, genetic analysis of the main genes associated with sudden cardiac death was performed using Next Generation Sequencing technology. Genetic analysis was performed in suspected inherited diseases (cardiomyopathy) and in unexplained death, with identification of potentially pathogenic variants in nearly 50% and 40% of samples, respectively.ConclusionsCardiac disease is the most important cause of sudden death, especially after the age of 40. Close to 10% of cases may remain unexplained after a complete autopsy investigation. Molecular autopsy may provide an explanation for a significant part of these unexplained cases. Identification of genetic variations enables genetic counseling and undertaking of preventive measures in relatives at risk.

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Section: Discussionmentioning

confidence: 99%

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

et al. 2016

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“…They described a case of a 58-year-old man with ARVC and a mutation in SCN5A [49]. Recently, a second case with ARVC and inducible Brugada ECG pattern has been described [93], and also SCN5A mutations in a cohort of Chinese patients of ARVC [93]. Until now, only two SCN5A mutations are described in ARVC.…”

Section: Phospholambanmentioning

confidence: 94%

Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

et al. 2014

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Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac entity characterized by right ventricular, or biventricular, fibrofatty replacement of myocardium. Structural alterations may lead to sudden cardiac death, mainly in young males during exercise. Autosomal dominant pattern of inheritance is reported in most parts of pathogenic genetic variations identified. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis. New genetic technologies allow further genetic analysis, generating a significant amount of genetic data in novel genes, which is often classified as of ambiguous significance. We focus on genetic advances of arrhythmogenic right ventricular cardiomyopathy, helping clinicians to interpret and translate genetic data into clinical practice.

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“…Clinical features of both syndromes were observed in patients who did not carry mutations in ARVC-related desmosomal proteins, but were found to have a mutation in SCN5A (ie, I137M, R367H, E746K, R1023H, R1644C, I1968S). [57][58][59] ARVC and BrS are both diseases considered to affect predominantly the right ventricle, and an increasing overlap between these entities has been suggested. 60 Taken together, these clinical and genetic findings indicate that single SCN5A mutations may be associated with a wide …”

Section: Cardiac Sodium Channel Overlap Syndrome: Clinical and Genetimentioning

confidence: 98%

Cardiac Sodium Channel Overlap Syndrome

Remme

2014

Cardiac Electrophysiology Clinics

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SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia

Cited by 28 publications

References 26 publications

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

Cardiac Sodium Channel Overlap Syndrome

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