ArticleProceedings of the National Academy of Sciences of the United States of America2021
Discordant clinical features of identical hypertrophic cardiomyopathy twins.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- Hypertrophic cardiomyopathy: state of the art on diagnosis and current therapeutic approach.Cardiovascular ultrasound · 2026Review
- Biomechanical stress unmasks a fibroblast-dependent hypercontractile-disarray phenotype in MYBPC3 truncation HCM.APL bioengineering · 2026Article
- Beta-Adrenergic Stimulation andbioRxiv : the preprint server for biology · 2026Article
- Hypertrophic cardiomyopathy in identical twins: a case report with mismatch between genotype and phenotype.European heart journal. Case reports · 2025Article
- Epigenetics of cardiomyopathies: the next frontier.Heart failure reviews · 2025Review
- Matrisome remodeling in the myocardium of hypertrophic cardiomyopathy; novel targets for molecular diagnostics.Frontiers in cell and developmental biology · 2025Review
- Twin Phenomena of Hypertrophic Cardiomyopathy: A Reported Case Series.Anatolian journal of cardiology · 2024Review
- Substrate mechanics unveil early structural and functional pathology in iPSC micro-tissue models of hypertrophic cardiomyopathy.iScience · 2024Article
- Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.Biomedicines · 2024Review
- Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.Circulation. Genomic and precision medicine · 2023Article
- Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.Medicina (Kaunas, Lithuania) · 2023Review
- Multiomics Network Medicine Approaches to Precision Medicine and Therapeutics in Cardiovascular Diseases.Arteriosclerosis, thrombosis, and vascular biology · 2023Review
- Hypertrophic cardiomyopathy in identical twins: a case series.European heart journal. Case reports · 2023Article
- Familial Hypertrophic Cardiomyopathy: Diagnosis and Management.Vascular health and risk management · 2023Review
- What Causes Hypertrophic Cardiomyopathy?The American journal of cardiology · 2022Review
- Different Phenotypes in Monozygotic Twins, Carriers of the Same Pathogenic Variant for Hypertrophic Cardiomyopathy.Life (Basel, Switzerland) · 2022Article
- Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.Molecular genetics & genomic medicine · 2022Article
- Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2022Review
- Shared Molecular Mechanisms of Hypertrophic Cardiomyopathy and Its Clinical Presentations: Automated Molecular Mechanisms Extraction Approach.Life (Basel, Switzerland) · 2021Article
- The Many Faces of Arterial Hypertension in Hypertrophic Cardiomyopathy and Its Phenocopies: Bystander, Consequence, Modifier.High blood pressure & cardiovascular prevention : the official journal of the Italian Society of Hypertension · 2021Article
Corrections and comments
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Authors and funding
15 authors at 9 institutions in 3 countries.
Funding
Abstract
Hypertrophic cardiomyopathy (HCM) is a disease of heart muscle, which affects ∼1 in 500 individuals and is characterized by increased left ventricular wall thickness. While HCM is caused by pathogenic variants in any one of eight sarcomere protein genes, clinical expression varies considerably, even among patients with the same pathogenic variant. To determine whether background genetic variation or environmental factors drive these differences, we studied disease progression in 11 pairs of monozygotic HCM twins. The twin pairs were followed for 5 to 14 y, and left ventricular wall thickness, left atrial diameter, and left ventricular ejection fraction were collected from echocardiograms at various time points. All nine twin pairs with sarcomere protein gene variants and two with unknown disease etiologies had discordant morphologic features of the heart, demonstrating the influence of nonhereditable factors on clinical expression of HCM. Whole genome sequencing analysis of the six monozygotic twins with discordant HCM phenotypes did not reveal notable somatic genetic variants that might explain their clinical differences. Discordant cardiac morphology of identical twins highlights a significant role for epigenetics and environment in HCM disease progression.
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Registered trials
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