Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance

Liu, Huiting; Ji, Fangfang; Wei, Ling; Zuo, Anjun; Gao, Yanjing; Qi, Lin; Bu, Jin; Wang, Jigang; Zhao, Peng

doi:10.1097/cm9.0000000000000428

Cited by 11 publications

(12 citation statements)

References 35 publications

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“…The atrial myocardium expresses αMYH, and the ventricular myocardium expresses βMYH. MYH7 gene variants are associated with a variety of cardiomyopathies in humans, including HCM [97] and DCM [98]. Emerging evidence also indicates that MYH6 variants may result in AF.…”

Section: Variants In Myosin Heavy Chainmentioning

confidence: 99%

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action

Wijk

Wijdeveld

et al. 2022

Cells

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The most common clinical tachyarrhythmia, atrial fibrillation (AF), is present in 1–2% of the population. Although common risk factors, including hypertension, diabetes, and obesity, frequently underlie AF onset, it has been recognized that in 15% of the AF population, AF is familial. In these families, genome and exome sequencing techniques identified variants in the non-coding genome (i.e., variant regulatory elements), genes encoding ion channels, as well as genes encoding cytoskeletal (-associated) proteins. Cytoskeletal protein variants include variants in desmin, lamin A/C, titin, myosin heavy and light chain, junctophilin, nucleoporin, nesprin, and filamin C. These cytoskeletal protein variants have a strong association with the development of cardiomyopathy. Interestingly, AF onset is often represented as the initial manifestation of cardiac disease, sometimes even preceding cardiomyopathy by several years. Although emerging research findings reveal cytoskeletal protein variants to disrupt the cardiomyocyte structure and trigger DNA damage, exploration of the pathophysiological mechanisms of genetic AF is still in its infancy. In this review, we provide an overview of cytoskeletal (-associated) gene variants that relate to genetic AF and highlight potential pathophysiological pathways that drive this arrhythmia.

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Section: Variants In Myosin Heavy Chainmentioning

confidence: 99%

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action

Wijk

Wijdeveld

et al. 2022

Cells

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“…Furthermore, Herrera-Rodríguez et al [ 61 ▪ ] conducted a systematic review and found that multiple site mutations in MYH7 gene were associated with SCD of HCM, including p. Arg 453 Cys, p. Arg 1045 Leu, p. Arg 719 Trp, p. Asn 391 Thr, p. Gly 716 Arg, p. Arg 403 Gln, p. Arg 453 Cys, p. Glu 848 Gly and p. Asn 391 Thr. Moreover, study from Liu et al [ 62 ] found that thr 446 pro and phe 468 leu mutations of MYH7 gene can also lead to SCD.…”

Section: Gene Mutationsmentioning

confidence: 99%

Risk factors of sudden cardiac death in hypertrophic cardiomyopathy

Hong

2021

Current Opinion in Cardiology

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Purpose of review Hypertrophic cardiomyopathy (HCM) is one of the leading causes of sudden cardiac death (SCD) in younger people and athletes. It is crucial to identify the risk factors for SCD in individuals with HCM. This review, based on recent systematic literature studies, will focus on the risk factors for SCD in patients with HCM. Recent findings An increasing number of studies have further explored the risk factors for SCD in patients with HCM, and new risk markers have emerged accordingly. In addition, more accurate SCD risk estimation and stratification methods have been proposed and continuously improved. Summary The identification of independent risk factors for HCM-related SCD would likely contribute to risk stratification. However, it is difficult to predict SCD with absolute certainty, as the annual incidence of SCD in adult patients with HCM is approximately 1%. The review discusses the established risk factors, such as a family history of SCD, unexplained syncope and some new risk factors. Taken together, the findings of this review demonstrate that there is a need for further research on individual risk factors and that SCD risk stratification in HCM patients remains a clinical challenge.

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“…Although there has been much research on the molecular genetics of HCM in recent years, research on the correlation between MYH7 gene variants and HCM is still insufficient in China [ 10 , 11 ]. In this study, we found a pedigree with an "uncertain significance" variant of MYH7 .…”

Section: Introductionmentioning

confidence: 99%

Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree

et al. 2021

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Background Inherited hypertrophic cardiomyopathy (HCM) is a common heart muscle disease that damages heart function and may cause the heart to suddenly stop beating. Genetic factors play an important role in HCM. Pedigree analysis is a good way to identify the genetic defects that cause disease. Methods An HCM pedigree was determined in Yunnan, China. Whole-exome sequencing was performed to identify the genetic variants of HCM. Another 30 HCM patients and 200 healthy controls were also used to investigate the frequency of the variants by customized TaqMan genotyping assay. Results The variant NM_000257.4:c.3134G > A (NP_000248.2:p.Arg1045His, rs397516178, c.3134G > A in short) was found to cosegregate with the clinical phenotype of HCM. Moreover, the variant was not found in the 200 control subjects. After genotyping the variant in 30 HCM patients, there was one patient who carried the variant and had a family history. Conclusions Our findings suggest that this variant may be closely related to the occurrence of the disease. According the ACMG guidelines, the c.3134G > A variant should be classified as "Likely pathogenic".

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Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance

Cited by 11 publications

References 35 publications

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action

Risk factors of sudden cardiac death in hypertrophic cardiomyopathy

Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree

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