Observational studyHeart (British Cardiac Society)2015
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Observational study in Heart (British Cardiac Society), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 3 of them syntheses that pooled it.
What it found
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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
93 citing papers in PubMed, 3 syntheses or guidelines pooled it, 169 citations in OpenAlex.
- Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.Circulation · 2024Pooled it
- Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis.Open heart · 2022Pooled it
- 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
- Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.PloS one · 2018Trial
- Genetic vulnerability and dynamic mechanical stress synergistically drive sarcomere failure in human iPSC-derived cardiomyocytes.Materials today. Bio · 2026Article
- Proteogenomics of Hypertrophic Cardiomyopathy Reveals Subtype-Specific Therapy.Circulation research · 2026Observational
- Sex Differences in Hypertrophic Cardiomyopathy.Current cardiology reports · 2026Review
- The impact of genotype-phenotype on the prognosis of children with hypertrophic cardiomyopathy.JTCVS open · 2026Article
- Genetic and Clinical Characterization of a South-Brazilian Hypertrophic Cardiomyopathy Cohort.Arquivos brasileiros de cardiologia · 2026Observational
- Are clinical trajectories in obstructive hypertrophic cardiomyopathy mutation-specific? A systematic review and meta-analysis ofFrontiers in cardiovascular medicine · 2026Review
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening.Journal of the American Heart Association · 2025Article
- Genetic determinants of the phenotype in a Swedish cohort of patients with hypertrophic cardiomyopathy.Scientific reports · 2025Article
- Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.Journal of the American Heart Association · 2025Article
- Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.Korean circulation journal · 2025Article
- Article
- Genetic insights into hypertrophic cardiomyopathy: pathogenesis, diagnosis, and therapeutic implications.Journal of cardiovascular imaging · 2025Review
- Phenotype-Based Classification of Obstructive Hypertrophic Cardiomyopathy Undergoing Myectomy.JACC. Basic to translational science · 2025Article
- Unravelling the Genotype of the Apical Variant of Hypertrophic Cardiomyopathy in a Swedish Cohort.Genes · 2025Article
- Exploring the Current Status of Risk Stratification in Hypertrophic Cardiomyopathy: From Risk Models to Promising Techniques.Journal of cardiovascular development and disease · 2025Review
33 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 5 countries.
Funding
Abstract
objectiveA predictable relation between genotype and disease expression is needed in order to use genetic testing for clinical decision-making in hypertrophic cardiomyopathy (HCM). The primary aims of this study were to examine the phenotypes associated with sarcomere protein (SP) gene mutations and test the hypothesis that variation in non-sarcomere genes modifies the phenotype.
methodsUnrelated and consecutive patients were clinically evaluated and prospectively followed in a specialist clinic. High-throughput sequencing was used to analyse 41 genes implicated in inherited cardiac conditions. Variants in SP and non-SP genes were tested for associations with phenotype and survival.
results874 patients (49.6±15.4 years, 67.8% men) were studied; likely disease-causing SP gene variants were detected in 383 (43.8%). Patients with SP variants were characterised by younger age and higher prevalence of family history of HCM, family history of sudden cardiac death, asymmetric septal hypertrophy, greater maximum LV wall thickness (all p values<0.0005) and an increased incidence of cardiovascular death (p=0.012). Similar associations were observed for individual SP genes. Patients with ANK2 variants had greater maximum wall thickness (p=0.0005). Associations at a lower level of significance were demonstrated with variation in other non-SP genes.
conclusionsPatients with HCM caused by rare SP variants differ with respect to age at presentation, family history of the disease, morphology and survival from patients without SP variants. Novel associations for SP genes are reported and, for the first time, we demonstrate possible influence of variation in non-SP genes associated with other forms of cardiomyopathy and arrhythmia syndromes on the clinical phenotype of HCM.
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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.