The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

ABSTRACT:

Introduction

The yield of genetic testing in hypertrophic cardiomyopathy (HCM) is variable. The Mayo HCM Genotype Predictor score (Mayo Score) provides the pre-test probability of a positive HCM genetic test. In the original cohort of Mayo Score patients, only 9 HCM-associated myofilament genes were evaluated. The aim of this study was to validate the Mayo Score in the national HCM cohort and assess the yield of genetic testing using next generation sequencing (NGS) evaluating up to 229 genes.

Material and methods

We included 336 consecutive unrelated HCM patients (41% women, mean age: 53 ±15 years). We performed NGS-based genomic testing with classification of identified variants according to American College of Medical Genetics and Genomics guidelines. NGS findings were co

SUBMITTER: Bonaventura J 

PROVIDER: S-EPMC6524174 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature