ArticleBMC medical genetics2008
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.
Article in BMC medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.Clinical research in cardiology : official journal of the German Cardiac Society · 2018Pooled it
- Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Clinical research in cardiology : official journal of the German Cardiac Society · 2017Pooled it
- G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K-AKT-mTOR Signal Axis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- CADASIL-like cerebral vasculopathy in a patient with a heterozygous MYBPC3 likely pathogenic splice site variant.Neurogenetics · 2025Article
- Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.BMC medical genomics · 2024Article
- Improving sudden cardiac death risk stratification in hypertrophic cardiomyopathy using established clinical variables and genetic information.Clinical research in cardiology : official journal of the German Cardiac Society · 2024Article
- A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy.ESC heart failure · 2023Article
- MIND-S is a deep-learning prediction model for elucidating protein post-translational modifications in human diseases.Cell reports methods · 2023Article
- NovelPharmacogenomics and personalized medicine · 2023Article
- Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2022Article
- Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case.Frontiers in cardiovascular medicine · 2022Article
- Novel Mutations in β-CJC open · 2022Article
- Review
- Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.Molecular genetics & genomic medicine · 2021Article
- Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in theFrontiers in pharmacology · 2020Article
- Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.International journal of molecular sciences · 2019Review
- Thick Filament Protein Network, Functions, and Disease Association.Comprehensive Physiology · 2018Review
- Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Science translational medicine · 2016Article
- Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy.The application of clinical genetics · 2014Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in MYBPC3 encoding myosin binding protein C belong to the most frequent causes of hypertrophic cardiomyopathy (HCM) and may also lead to dilated cardiomyopathy (DCM). MYBPC3 mutations initially were considered to cause a benign form of HCM. The aim of this study was to examine the clinical outcome of patients and their relatives with 18 different MYBPC3 mutations.
methods87 patients with HCM and 71 patients with DCM were screened for MYBPC3 mutations by denaturing gradient gel electrophoresis and sequencing. Close relatives of mutation carriers were genotyped for the respective mutation. Relatives with mutation were then evaluated by echocardiography and magnetic resonance imaging. A detailed family history regarding adverse clinical events was recorded.
resultsIn 16 HCM (18.4%) and two DCM (2.8%) index patients a mutation was detected. Seven mutations were novel. Mutation carriers exhibited no additional mutations in genes MYH7, TNNT2, TNNI3, ACTC and TPM1. Including relatives of twelve families, a total number of 42 mutation carriers was identified of which eleven (26.2%) had at least one adverse event. Considering the twelve families and six single patients with mutations, 45 individuals with cardiomyopathy and nine with borderline phenotype were identified. Among the 45 patients, 23 (51.1%) suffered from an adverse event. In eleven patients of seven families an unexplained sudden death was reported at the age between 13 and 67 years. Stroke or a transient ischemic attack occurred in six patients of five families. At least one adverse event occurred in eleven of twelve families.
conclusionMYBPC3 mutations can be associated with cardiac events such as progressive heart failure, stroke and sudden death even at younger age. Therefore, patients with MYBPC3 mutations require thorough clinical risk assessment.
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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.