ReviewJournal of the American Heart Association2020
Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?
Review in Journal of the American Heart Association, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 72 citations in OpenAlex.
- Genetic Testing in Hypertrophic Cardiomyopathy: Expanding Global Representation While Refining Interpretation.Arquivos brasileiros de cardiologia · 2026Article
- Genetic insights into hypertrophic cardiomyopathy: pathogenesis, diagnosis, and therapeutic implications.Journal of cardiovascular imaging · 2025Review
- Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.Journal of the American College of Cardiology · 2025Article
- Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of SpliceogenicAnnals of laboratory medicine · 2025Article
- Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations.Human mutation · 2025Article
- Obstructive hypertrophic cardiomyopathy: from genetic insights to a multimodal therapeutic approach with mavacamten, aficamten, and beyond.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2024Review
- Genetic Biomarkers in Heart Failure: From Gene Panels to Polygenic Risk Scores.Current heart failure reports · 2024Review
- Review
- ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.medRxiv : the preprint server for health sciences · 2024Article
- Modeling cardiomyocyte signaling and metabolism predicts genotype-to-phenotype mechanisms in hypertrophic cardiomyopathy.Computers in biology and medicine · 2024Article
- Personalized transcriptome signatures in a cardiomyopathy stem cell biobank.bioRxiv : the preprint server for biology · 2024Article
- Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.Biomedicines · 2024Review
- Myosin in autoinhibitedProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Underrepresentation of Diverse Ancestries Drives Uncertainty in Genetic Variants Found in Cardiomyopathy-Associated Genes.JACC. Advances · 2024Article
- Mexican guidelines 2024 for the diagnosis and treatment of hypertrophic cardiomyopathy.Archivos de cardiologia de Mexico · 2024Article
- Hypertrophic cardiomyopathy inThe journal of cardiovascular aging · 2024Article
- Mavacamten: a first-in-class myosin inhibitor for obstructive hypertrophic cardiomyopathy.European heart journal · 2023Review
- Myocardial Fibrosis in Hypertrophic Cardiomyopathy: A Perspective from Fibroblasts.International journal of molecular sciences · 2023Review
- Temporal trends of hypertrophic cardiomyopathy in Denmark: a nationwide retrospective cohort study.BMJ open · 2023Article
- Adult Onset Hypertrophic Cardiomyopathy (HCM) Not Detected by Echocardiogram: A Case Presentation.Cureus · 2023Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
Abstract
Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique, supported by 30 years of research into its genetic etiology. Although pathogenic variants are often detected in patients and used to identify at-risk relatives, the effectiveness of genetic testing has been hampered by ambiguous genetic associations (yielding uncertain and potentially false-positive results), difficulties in classifying variants, and uncertainty about genotype-negative patients. Recent case-control studies on rare variation, improved data sharing, and meta-analysis of case cohorts contributed to new insights into the genetic basis of HCM. In particular, although research into new genes and mechanisms remains essential, reassessment of Mendelian genetic associations in HCM argues that current clinical genetic testing should be limited to a small number of validated disease genes that yield informative and interpretable results. Accurate and consistent variant interpretation has benefited from new standardized variant interpretation guidelines and innovative approaches to improve classification. Most cases lacking a pathogenic variant are now believed to indicate non-Mendelian HCM, with more benign prognosis and minimal risk to relatives. Here, we discuss recent advances in the genetics of HCM and their application to clinical genetic testing together with practical issues regarding implementation. Although this review focuses on HCM, many of the issues discussed are also relevant to other inherited cardiac diseases.
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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.