ArticleJournal of cardiovascular translational research2023
Age and Sex Differences in the Genetics of Cardiomyopathy.
Article in Journal of cardiovascular translational research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Rethinking Left Ventricular Noncompaction and Excessive Left Ventricular Trabeculation: Development, Genetics, and a Proposed Conceptual Framework.Journal of clinical medicine · 2026Review
- Sex-Specific Differences in Dyspeptic Symptoms in Children Are Attenuated byPediatric gastroenterology, hepatology & nutrition · 2026Article
- Sex differences in cardiovascular‑kidney‑metabolic syndrome: From pathogenesis to treatment response (Review).International journal of molecular medicine · 2026Review
- Abnormal Lipid Signaling Characterizes Diastolic Dysfunction in Pediatric Cardiomyopathy.JACC. Basic to translational science · 2026Article
- Genetic Profiling and Phenotype Spectrum in a Chinese Cohort of Pediatric Cardiomyopathy Patients.Journal of cardiovascular development and disease · 2025Article
- Infantile Hypertrophic cardiomyopathy: steps towards an evidence-based approach to genetic testing.Pediatric research · 2025Article
- Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy.Journal of medical genetics · 2025Article
- Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity.Orphanet journal of rare diseases · 2025Article
- Uncovering dendritic cell specific biomarkers for diagnosis and prognosis of cardiomyopathy using single cell RNA sequencing and comprehensive bioinformatics analysis.Scientific reports · 2025Article
- Next generation sequencing in dilated cardiomyopathy: utility and challenges in the African context.Frontiers in cardiovascular medicine · 2025Review
- Genotype-phenotype insights of pediatric dilated cardiomyopathy.Frontiers in pediatrics · 2025Review
- Association Between Diurnal Temperature Range and Risk of Cardiomyopathy-Induced Hospitalisation in Henan, China: A Time-Series Study.Risk management and healthcare policy · 2025Article
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- Pediatric Hypertrophic Cardiomyopathy: Exploring the Genotype-Phenotype Association.Journal of the American Heart Association · 2022Article
Corrections and comments
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Authors and funding
9 authors at 8 institutions in 2 countries.
Funding
Abstract
Cardiomyopathy has variable penetrance. We analyzed age and sex-related genetic differences in 1,397 cardiomyopathy patients (Ontario, UK) with whole genome sequencing. Pediatric cases (n = 471) harbored more deleterious protein-coding variants in Tier 1 cardiomyopathy genes compared to adults (n = 926) (34.6% vs 25.9% respectively, p = 0.0015), with variant enrichment in constrained coding regions. Pediatric patients had a higher burden of sarcomere and lower burden of channelopathy gene variants compared to adults. Specifically, pediatric patients had more MYH7 and MYL3 variants in hypertrophic cardiomyopathy, and fewer TTN truncating variants in dilated cardiomyopathy. MYH7 variants clustered in the myosin head and neck domains in children. OBSCN was a top mutated gene in adults, enriched for protein-truncating variants. In dilated cardiomyopathy, female patients had a higher burden of z-disc gene variants compared to males. Genetic differences may explain age and sex-related variability in cardiomyopathy penetrance. Genotype-guided predictions of age of onset can inform pre-test genetic counseling. Pediatric cardiomyopathy patients were more likely to be genotype-positive than adults with a higher burden of variants in MYH7, MYL3, TNNT2, VCL. Adults had a higher burden of OBSCN and TTN variants. Females with dilated cardiomyopathy (DCM) had a higher burden of z-disc gene variants compared to males.
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Registered trials
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.