ArticleCirculation. Genomic and precision medicine2023
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.
Article in Circulation. Genomic and precision medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Genotype status and arrhythmic risk in sport participants with hypertrophic cardiomyopathy.European heart journal open · 2026Article
- From checklists to phenotypes: a new era in individualized hcm risk stratification with CMR.The international journal of cardiovascular imaging · 2026Article
- Four-dimensional left ventricular motion clustering reveals cardiovascular phenotypes at population scale.Scientific reports · 2026Article
- 2026 Expert Consensus Recommendations on Hypertrophic Cardiomyopathy: A Report of the Task Force of the Taiwan Society of Cardiology.Acta Cardiologica Sinica · 2026Article
- Diffuse hypertrophic obstructive cardiomyopathy complicated by apical ventricular aneurysm and excessive left ventricular trabeculation: a case report.Frontiers in cardiovascular medicine · 2026Article
- Are clinical trajectories in obstructive hypertrophic cardiomyopathy mutation-specific? A systematic review and meta-analysis ofFrontiers in cardiovascular medicine · 2026Review
- Deriving novel atrial fibrillation phenotypes using a tree-based artificial intelligence-enhanced electrocardiography approach.NPJ digital medicine · 2025Article
- Genetic Profiling and Phenotype Spectrum in a Chinese Cohort of Pediatric Cardiomyopathy Patients.Journal of cardiovascular development and disease · 2025Article
- The influence of genotype on the phenotype and prognosis of patients with hypertrophic cardiomyopathy.The international journal of cardiovascular imaging · 2025Article
- Leveraging artificial intelligence for risk stratification of inherited cardiomyopathies in under-resourced settings.Heart rhythm O2 · 2025Article
- New Genetic Loci Implicated in Cardiac Morphology and Function Using Three-Dimensional Population Phenotyping.Circulation. Genomic and precision medicine · 2025Article
- Revisiting Abnormalities of Ventricular Depolarization: Redefining Phenotypes and Associated Outcomes Using Tree-Based Dimensionality Reduction.Journal of the American Heart Association · 2025Article
- Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors.Journal of genetic counseling · 2025Review
- Exploration of calcium and amino acids for children with primary cardiomyopathies based on genetic characteristics.Frontiers in pediatrics · 2025Article
- Artificial Intelligence Advancements in Cardiomyopathies: Implications for Diagnosis and Management of Arrhythmogenic Cardiomyopathy.Current heart failure reports · 2024Review
- Genetic and phenotypic architecture of human myocardial trabeculation.Nature cardiovascular research · 2024Article
- Current understanding and management of cardiovascular involvement in rheumatic immune-mediated inflammatory diseases.Nature reviews. Rheumatology · 2024Review
- LAVASET: Latent Variable Stochastic Ensemble of Trees. An ensemble method for correlated datasets with spatial, spectral, and temporal dependencies.Bioinformatics (Oxford, England) · 2024Article
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Authors and funding
28 authors at 14 institutions in 6 countries.
Funding
Abstract
backgroundHypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death associated with heterogeneous phenotypes, but there is no systematic framework for classifying morphology or assessing associated risks. Here, we quantitatively survey genotype-phenotype associations in HCM to derive a data-driven taxonomy of disease expression.
methodsWe enrolled 436 patients with HCM (median age, 60 years; 28.8% women) with clinical, genetic, and imaging data. An independent cohort of 60 patients with HCM from Singapore (median age, 59 years; 11% women) and a reference population from the UK Biobank (n=16 691; mean age, 55 years; 52.5% women) were also recruited. We used machine learning to analyze the 3-dimensional structure of the left ventricle from cardiac magnetic resonance imaging and build a tree-based classification of HCM phenotypes. Genotype and mortality risk distributions were projected on the tree.
resultsCarriers of pathogenic or likely pathogenic variants for HCM had lower left ventricular mass, but greater basal septal hypertrophy, with reduced life span (mean follow-up, 9.9 years) compared with genotype negative individuals (hazard ratio, 2.66 [95% CI, 1.42-4.96];
conclusionsWe report a data-driven taxonomy of HCM for identifying groups of patients with similar morphology while preserving a continuum of disease severity, genetic risk, and outcomes. This approach will be of value in understanding the causes and consequences of disease diversity.
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