ArticlePloS one2017
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 79 citations in OpenAlex.
- Cardiac mechanotransduction from development to disease.APL bioengineering · 2026Review
- Characterising the phenotype and outcomes of cascade-tested relatives of probands with hypertrophic cardiomyopathy.Open heart · 2026Article
- Molecular Pathology of Cardiomyopathies: Bridging Morphology, Genomics, and Clinical Phenotypes.Current issues in molecular biology · 2026Review
- Are clinical trajectories in obstructive hypertrophic cardiomyopathy mutation-specific? A systematic review and meta-analysis ofFrontiers in cardiovascular medicine · 2026Review
- The influence of genotype on the phenotype and prognosis of patients with hypertrophic cardiomyopathy.The international journal of cardiovascular imaging · 2025Article
- Article
- Disparate Molecular Properties of Two Hypertrophic Cardiomyopathy-Associated cMyBP-C Mutants Reveal Distinct Pathogenic Mechanisms Beyond Haploinsufficiency.Biomedicines · 2025Article
- A Proposal for Research Involving New Biomarkers of Hypertension, Lifestyle, and Environmental Exposure.Current issues in molecular biology · 2025Article
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- Hyperpolarized-MRI in Hypertrophic Cardiomyopathy: A Narrative Review.Clinical Medicine Insights. Cardiology · 2025Review
- Association of Fibrate use with clinical expression of hypertrophic cardiomyopathy.ESC heart failure · 2024Article
- Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.Journal of clinical medicine · 2024Article
- Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.ESC heart failure · 2024Article
- Machine learning-driven diagnostic signature provides new insights in clinical management of hypertrophic cardiomyopathy.ESC heart failure · 2024Article
- Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives.Global medical genetics · 2024Review
- Hypertrophic cardiomyopathy inThe journal of cardiovascular aging · 2024Article
- An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2023Review
- De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.Human genomics · 2022Article
- Circulating miR-499a-5p Is a Potential Biomarker ofInternational journal of molecular sciences · 2022Article
- Translation of New and Emerging Therapies for Genetic Cardiomyopathies.JACC. Basic to translational science · 2022Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). Previous studies suggest that cardiac β-myosin heavy chain (MYH7) gene mutations are commonly associated with a more severe phenotype, compared to cardiac myosin binding protein-C (MYBPC3) gene mutations with milder phenotype, incomplete penetrance and later age of onset. Compound mutations can worsen the phenotype. This study aimed to validate these comparative differences in a large cohort of individuals and families with HCM. We performed genome-phenome correlation among 80 symptomatic HCM patients, 35 asymptomatic carriers and 35 non-carriers, using an 18-gene clinical diagnostic HCM panel. A total of 125 mutations were identified in 14 genes. MYBPC3 and MYH7 mutations contributed to 50.0% and 24.4% of the HCM patients, respectively, suggesting that MYBPC3 mutations were the most frequent cause of HCM in our cohort. Double mutations were found in only nine HCM patients (7.8%) who were phenotypically indistinguishable from single-mutation carriers. Comparisons of clinical parameters of MYBPC3 and MYH7 mutants were not statistically significant, but asymptomatic carriers had high left ventricular ejection fraction and diastolic dysfunction when compared to non-carriers. The presence of double mutations increases the risk for symptomatic HCM with no change in severity, as determined in this study subset. The pathologic effects of MYBPC3 and MYH7 were found to be independent of gene mutation location. Furthermore, HCM pathology is independent of protein domain disruption in both MYBPC3 and MYH7. These data provide evidence that MYBPC3 mutations constitute the preeminent cause of HCM and that they are phenotypically indistinguishable from HCM caused by MYH7 mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.