ArticleJournal of cardiovascular translational research2016
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
Article in Journal of cardiovascular translational research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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
31 citing papers in PubMed, 59 citations in OpenAlex.
- Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning.Circulation. Genomic and precision medicine · 2021Trial
- Integrating ECG Into the Mayo Score Enhances Genotype Prediction in Hypertrophic Cardiomyopathy.Journal of the American Heart Association · 2026Article
- Predictors for increasing genetic testing yields in hypertrophic cardiomyopathy.Irish journal of medical science · 2026Article
- Coexistence of Hypertrophic Cardiomyopathy and Arterial Hypertension: Current Insights and Future Directions.Diseases (Basel, Switzerland) · 2025Review
- The influence of genotype on the phenotype and prognosis of patients with hypertrophic cardiomyopathy.The international journal of cardiovascular imaging · 2025Article
- Enhancement of the Mayo Clinic HCM Genotype Predictor Score with Addition of Cardiac Magnetic Resonance Imaging.Journal of cardiovascular translational research · 2025Article
- Left ventricular global longitudinal strain and diagnostic yield of genetic testing in hypertrophic cardiomyopathy in a multicenter registry analysis.Scientific reports · 2025Article
- Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes.iScience · 2025Article
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- A Cautionary Tale of Hypertrophic Cardiomyopathy-From "Benign" Left Ventricular Hypertrophy to Stroke, Atrial Fibrillation, and Molecular Genetic Diagnostics: A Case Report and Review of Literature.International journal of molecular sciences · 2024Review
- Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.Journal of the American Heart Association · 2024Article
- Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.Biomedicines · 2024Review
- A Narrative Review of Emerging Therapies for Hypertrophic Obstructive Cardiomyopathy.Current cardiology reviews · 2023Review
- Compound Heterozygous Missense Variants inChildren (Basel, Switzerland) · 2022Article
- Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.PloS one · 2022Article
- Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.Molecular genetics & genomic medicine · 2021Article
- Genetic Testing in Patients with Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2021Review
- Deep Learning Analysis of Echocardiographic Images to Predict Positive Genotype in Patients With Hypertrophic Cardiomyopathy.Frontiers in cardiovascular medicine · 2021Article
- Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.Human genetics · 2020Article
- Important Considerations in Pediatric Heart Failure.Current cardiology reports · 2020Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Genetic testing for hypertrophic cardiomyopathy (HCM) can provide an important clinical marker for disease outcome and family screening. This study set out to validate our recently developed phenotype-based HCM genotype predictor score. Patients clinically diagnosed with HCM and evaluated by genetic counselors comprised the study cohort. Genotype score was derived based on clinical and echocardiographic variables. Total score was correlated with the yield of genetic testing. Of 564 HCM patients, 198 sought genetic testing (35 %; 55 % male; mean age at diagnosis, 50 ± 20 years). Of these, 101 patients (51 %) were genotype positive for a HCM-associated genetic mutation (55 % male; mean age at diagnosis, 42 ± 18 years). Cochran-Armitage analysis showed similar, statistically significant trends of increased yields for higher genotype scores for both the original and study cohort. Validated by the current study, this scoring system provides an easy-to-use, clinical tool to aid in determining the likelihood of a positive HCM genetic test.
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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.