ArticleHeart (British Cardiac Society)2015
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
Article in Heart (British Cardiac Society), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guidelines on the Diagnosis and Treatment of Hypertrophic Cardiomyopathy - 2024.Arquivos brasileiros de cardiologia · 2024Guideline
- The hypertrophic cardiomyopathy mutation G768R makes cardiac myosin a high duty ratio motor.bioRxiv : the preprint server for biology · 2026Article
- Personalized Sudden Cardiac Death Risk Stratification in Hypertrophic Cardiomyopathy: Beyond Conventional Risk Scores.Journal of personalized medicine · 2026Review
- Hypertrophic cardiomyopathy: comprehensive insights into pathogenic genes and genotype-phenotype associations.Frontiers in cell and developmental biology · 2026Review
- Genetics in Hypertrophic Cardiomyopathy: An Evolving Clinical Landscape.Cardiac failure review · 2026Review
- A New Era in the Management of Hypertrophic Cardiomyopathy.Reviews in cardiovascular medicine · 2025Review
- Three-Dimensional iPSC-Based In Vitro Cardiac Models for Biomedical and Pharmaceutical Research Applications.International journal of molecular sciences · 2024Review
- MYH7 in cardiomyopathy and skeletal muscle myopathy.Molecular and cellular biochemistry · 2024Review
- Mexican guidelines 2024 for the diagnosis and treatment of hypertrophic cardiomyopathy.Archivos de cardiologia de Mexico · 2024Article
- Article
- Performance of the PRIMaCY sudden death risk prediction model for childhood hypertrophic cardiomyopathy: implications for implantable cardioverter-defibrillator decision-making.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 · 2023Article
- Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.International journal of molecular sciences · 2023Review
- Overlapping Phenotype of Adult-OnsetCardiology research · 2022Article
- Contemporary Therapies and Future Directions in the Management of Hypertrophic Cardiomyopathy.Cardiology and therapy · 2022Review
- Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis.ESC heart failure · 2022Article
- Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.Frontiers in physiology · 2022Review
- Cryo-EM structure of the autoinhibited state of myosin-2.Science advances · 2021Article
- Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.Molecular genetics & genomic medicine · 2021Article
- Mavacamten, a Novel Therapeutic Strategy for Obstructive Hypertrophic Cardiomyopathy.Current cardiology reports · 2021Review
- Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of NovelFrontiers in cardiovascular medicine · 2021Article
Corrections and comments
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe prognostic value of genetic studies in cardiomyopathies is still controversial. Our objective was to evaluate the outcome of patients with cardiomyopathy with mutations in the converter domain of β myosin heavy chain (MYH7).
methodsClinical characteristics and survival of 117 affected members with mutations in the converter domain of MYH7 were compared with 409 patients described in the literature with mutations in the same region.
resultsTwenty-five mutations were evaluated (9 in our families including 3 novel (Ile730Asn, Asp717Gly and Arg719Pro)). Clinical diagnoses were hypertrophic (n=407), dilated (n=15), non-compaction (n=4) and restrictive (n=5) cardiomyopathies, unspecified cardiomyopathy (n=11), sudden death (n=50) and 35 healthy carriers. One hundred eighty-four had events (cardiovascular death or transplant). Median event-free survival was 50±2 years in our patients and 53±3 years in the literature (p=0.27). There were significant differences in the outcome between mutation: Ile736Thr had fewer events than other mutations in the region (p=0.01), while Arg719Gln (p<0.01) had reduced event-free survival.
conclusionsMutations in the converter region are generally associated with adverse prognosis although there are differences between mutations. The identification of a mutation in this particular region provides important prognostic information that should be considered in the clinical management of affected patients.
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