title: Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
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.
authors.affiliation: Mayo Medical School, Mayo Clinic, Rochester, MN, USA.
authors.forename: Sinead L
authors.initials: SL
authors.lastname: Murphy
authors.affiliation: Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, USA.
authors.forename: Jason H
authors.initials: JH
authors.lastname: Anderson
authors.affiliation: Mayo Medical School, Mayo Clinic, Rochester, MN, USA.|Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
authors.forename: Jamie D
authors.initials: JD
authors.lastname: Kapplinger
authors.affiliation: Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
authors.forename: Teresa M
authors.initials: TM
authors.lastname: Kruisselbrink
authors.affiliation: Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.
authors.forename: Bernard J
authors.initials: BJ
authors.lastname: Gersh
authors.affiliation: Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.
authors.forename: Steve R
authors.initials: SR
authors.lastname: Ommen
authors.affiliation: Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, USA.|Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.|Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Ackerman
authors.affiliation: Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, USA. Bos.Martijn@mayo.edu.|Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA. Bos.Martijn@mayo.edu.|Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA. Bos.Martijn@mayo.edu.
authors.forename: J Martijn
authors.initials: JM
authors.lastname: Bos
mesh_terms: D000328:Adult; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D004252:DNA Mutational Analysis; D003661:Decision Support Techniques; D004452:Echocardiography; D057286:Electronic Health Records; D005260:Female; D005817:Genetic Counseling; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D008910:Minnesota; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D015203:Reproducibility of Results; D012189:Retrospective Studies; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D005819:Genetic Markers
keywords: Genetics; Genotype predictor; Hypertrophic cardiomyopathy; Sudden cardiac death