ArticleHeart and vessels2017
Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.
Article in Heart and vessels, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis.Open heart · 2022Pooled it
- Hypertrophic cardiomyopathy: comprehensive insights into pathogenic genes and genotype-phenotype associations.Frontiers in cell and developmental biology · 2026Review
- Clinical manifestations, genetic profiles, and sudden cardiac arrest in pediatric hypertrophic cardiomyopathy: Challenges of risk prediction for initial sudden cardiac arrest presentations.Heart rhythm O2 · 2025Article
- Countywide burden, pathology, and genetics of lethal hypertrophic cardiomyopathy: from the POST SCD study.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025Article
- Current perspectives of sudden cardiac death management in hypertrophic cardiomyopathy.Heart failure reviews · 2024Review
- Outcomes of hypertrophic cardiomyopathy in Japanese children: a retrospective cohort study.Heart and vessels · 2022Observational
- Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside.Frontiers in cardiovascular medicine · 2022Review
- Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.Journal of clinical medicine · 2020Article
- Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2020Article
- Review
- Clinicopathological and Genetic Profiles of Cases with Myocytes Disarray-Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy.Journal of clinical medicine · 2019Article
- 2D speckle-tracking TTE-based quantitative classification of left ventricular myocardium in patients with hypertrophic cardiomyopathy by the presence or the absence of fibrosis and/or hypertrophy.Heart and vessels · 2018Article
- A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.Journal of the American Heart Association · 2017Article
Corrections and comments
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Authors and funding
25 authors at 14 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although some studies have attempted to find useful prognostic factors in hypertrophic cardiomyopathy (HCM), those results are not fully helpful for use in actual clinical practice. Furthermore, several genetic abnormalities associated with HCM have been identified. However, the genotype-phenotype correlation in HCM remains to be elucidated. Here, we attempted to assess patients with different types of gene mutations causing HCM and investigate the prognosis. A total of 140 patients with HCM underwent a screening test for myofilament gene mutations by direct sequencing of eight sarcomeric genes. Patients with a single mutation in cardiac troponin T, cardiac troponin I, α-tropomyosin, and regulatory and essential light chains were excluded from the study because the number of cases was too small. The clinical presentations and outcomes of the remaining 127 patients with HCM, 31 β-myosin heavy chain (MYH7) mutation carriers, 19 cardiac myosin-binding protein C (MYBPC3) mutation carriers, and 77 mutation non-carriers were analyzed retrospectively. MYBPC3 mutation carriers had a high frequency of ventricular arrhythmia and syncope. Kaplan-Meier curves revealed no significant difference in prognosis among the three groups, but a lack of family history of sudden death (SD) and a past history of syncope were significantly related to poor prognosis. An absence of family history of SD and past history of syncope are useful prognostic factors in patients with HCM. MYH7 and MYBPC3 mutations did not significantly influence prognosis compared to non-carriers. However, patients with the MYBPC3 mutation should be closely followed for the possibility of SD.
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