ArticleClinical and translational science2013
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
Article in Clinical and translational science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- 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
- Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.Journal of the American Heart Association · 2025Article
- Identification of biomarkers and immune microenvironment associated with heart failure through bioinformatics and machine learning.Frontiers in molecular biosciences · 2025Article
- Current RNA strategies in treating cardiovascular diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.Scientific reports · 2024Review
- Titin: roles in cardiac function and diseases.Frontiers in physiology · 2024Review
- Exploring novel biomarkers in dilated cardiomyopathy‑induced heart failure by integrated analysis andExperimental and therapeutic medicine · 2023Article
- Myosin-Related Dilated Cardiomyopathy: Another Elephant Emerges From Darkness.Journal of the American College of Cardiology · 2022Article
- Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.Circulation. Genomic and precision medicine · 2022Observational
- Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy.European heart journal · 2022Article
- Significance of α-Myosin Heavy Chain (Journal of cardiovascular development and disease · 2022Article
- Clinical Implication of Genetic Testing in Dilated Cardiomyopathy.International journal of heart failure · 2022Review
- Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy.Journal of cellular and molecular medicine · 2021Article
- Cardiac sarcomere mechanics in health and disease.Biophysical reviews · 2021Review
- The Role of AI in Characterizing the DCM Phenotype.Frontiers in cardiovascular medicine · 2021Review
- Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy.Frontiers in physiology · 2020Review
- Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy.Acta Cardiologica Sinica · 2019Article
- Genetic determinants of responsiveness to mesenchymal stem cell injections in non-ischemic dilated cardiomyopathy.EBioMedicine · 2019Article
- Predicting Arrhythmia Risk in Dilated Cardiomyopathy Using Genetic Mutation Status.Journal of the American College of Cardiology · 2019Article
- Moving beyond simple answers to complex disorders in sarcomeric cardiomyopathies: the role of integrated systems.Pflugers Archiv : European journal of physiology · 2019Review
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundIn dilated cardiomyopathy (DCM), the clinical and prognostic implications of rare variants in sarcomeric genes remain poorly understood. To address this question, we analyzed the outcome of rare sarcomeric gene variants in patients enrolled in our Familial Cardiomyopathy Registry.
methodsDCM families harboring rare sarcomeric variants in MYH6, MYH7, MYBPC3, TNNT2, and TTN were identified. Genotype-phenotype association analysis was performed, and long-term survival-free from death or heart transplant was compared between carriers and noncarriers.
resultsWe found 24 rare variants (3 in MYH6, 3 in MYH7, 3 in MYBPC3, 2 in TNNT2, and 13 in TTN) affecting 52 subjects in 25 families. The phenotypes of variant carriers were severe (3 sudden deaths, 6 heart failure deaths, 8 heart transplants, 2 ventricular fibrillations). There was no difference in the overall long-term survival between carriers and the 33 noncarriers (p = 0.322). However after 50 years of age, the combined endpoint of death or transplant was decreased in carriers as compared to noncarriers (p = 0.026).
conclusionsPatients with DCM carrying rare variants in sarcomeric genes manifest a poorer prognosis as compared to noncarriers after the age of 50 years. These data further support the role of genetic testing in DCM for risk stratification.
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