Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy

Sinead L. Murphy, Jason H. Anderson, Jamie D. Kapplinger, Teresa M. Kruisselbrink, Bernard J. Gersh, Steve R. Ommen, Michael John Ackerman, J. Martijn Bos

Research output: Contribution to journalArticle

19 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)153-161
Number of pages9
JournalJournal of Cardiovascular Translational Research
Issue number2
StatePublished - Apr 1 2016



  • Genetics
  • Genotype predictor
  • Hypertrophic cardiomyopathy
  • Sudden cardiac death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Genetics
  • Genetics(clinical)
  • Molecular Medicine
  • Pharmaceutical Science

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