ArticleOpen heart
Heritability in genetic heart disease: the role of genetic background.
Article in Open heart. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Epigenetics of cardiomyopathies: the next frontier.Heart failure reviews · 2025Review
- Twin Phenomena of Hypertrophic Cardiomyopathy: A Reported Case Series.Anatolian journal of cardiology · 2024Review
- Dilated Cardiomyopathy: A Genetic Journey from Past to Future.International journal of molecular sciences · 2024Review
- Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.Medicina (Kaunas, Lithuania) · 2023Review
- Genomic approaches to identify and investigate genes associated with atrial fibrillation and heart failure susceptibility.Human genomics · 2023Review
- HiPSC-derived cardiomyocyte to model Brugada syndrome: both asymptomatic and symptomatic mutation carriers reveal increased arrhythmogenicity.BMC cardiovascular disorders · 2023Article
- Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.Frontiers in cardiovascular medicine · 2023Review
- Novel Genes Involved in Hypertrophic Cardiomyopathy: Data of Transcriptome and Methylome Profiling.International journal of molecular sciences · 2022Article
- Circulating miR-499a-5p Is a Potential Biomarker ofInternational journal of molecular sciences · 2022Article
- Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.European heart journal · 2021Review
- Discordant clinical features of identical hypertrophic cardiomyopathy twins.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Heritability and Pedigree Analyses of Hypertrophic Cardiomyopathy in Rhesus Macaques (Frontiers in veterinary science · 2021Article
- Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies.The Clinical biochemist. Reviews · 2019Review
Corrections and comments
- Erratum issuedCorrection:2020
Authors and funding
20 authors at 11 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Mutations in genes encoding ion channels or sarcomeric proteins are an important cause of hereditary cardiac disease. However, the severity of the resultant disease varies considerably even among those with an identical mutation. Such clinical variation is often thought to be explained largely by differences in genetic background or 'modifier genes'. We aimed to test the prediction that identical genetic backgrounds result in largely similar clinical expression of a cardiac disease causing mutation, by studying the clinical expression of mutations causing cardiac disease in monozygotic twins. Methods: We compared first available clinical information on 46 monozygotic twin pairs and 59 control pairs that had either a hereditary cardiomyopathy or channelopathy. Results: Despite limited power of this study, we found significant heritability for corrected QT interval (QTc) in long QT syndrome (LQTS). We could not detect significant heritability for structural traits, but found a significant environmental effect on thickness of the interventricular septum in hypertrophic cardiomyopathy. Conclusions: Our study confirms previously found robust heritability for electrical traits like QTc in LQTS, and adds information on low or lacking heritability for structural traits in heritable cardiomyopathies. This may steer the search for genetic modifiers in heritable cardiac disease.
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