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February 28, 2026Journal of the American Heart Association0 citationsOpen Access

Evolution of Genetics, Genetic Testing, and Genotype Predictor Scores for Hypertrophic Cardiomyopathy: Phenotype Is Still King

JBJ. Martijn BosAMAckerman Mj

Structured PICO

P
Population
Patients with hypertrophic cardiomyopathy (HCM)
I
Intervention
ECG-enhanced Mayo genotype predictor score

This editorial emphasizes that despite advances in genomics and artificial intelligence, detailed clinical phenotyping, including ECG parameters, remains essential for accurate diagnosis and interpretation of genetic testing in hypertrophic cardiomyopathy.

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Cite This Study

Bos et al. (2026) studied this question.

synapsesocial.com/papers/6a025a519cddff7633412b2dhttps://doi.org/10.1161/jaha.125.047928
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Also Consider

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  1. 1Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology2015 · 33,239 citations
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  3. 3Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy2008 · 327 citations
  4. 4A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation1990 · 1,394 citations
  5. 5Clinical Utility of a Phenotype-Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing2020 · 19 citations