eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
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3/2019
vol. 15
 
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Cardiomyopathy
abstract:
Clinical research

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

Jiří Bonaventura, Patricia Norambuena, Pavol Tomašov, Denisa Jindrová, Hana Šedivá, Milan Macek Jr, Josef Veselka

Arch Med Sci 2019; 15 (3): 641–649
Online publish date: 2018/10/08
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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 compared with the Mayo Score (ranging from –1 to 5) based on clinical and echocardiographic variables.

Results
We identified 72 variants classified as pathogenic or likely pathogenic in 70 (21%) HCM patients. One patient with the highest Mayo Score of 5 had a pathogenic mutation (100% yield). Patients with a Mayo Score of 4 had a pathogenic mutation in 71% of cases. Patients with a Mayo Score of 3 or 2 had a pathogenic mutation in 50 and 35% of cases, respectively. The yield of genetic testing in patients with a Mayo Score of –1 to 1 was low (6–21%).

Conclusions
The overall yield of genetic testing using NGS evaluating up to 229 genes was low. The yield of genetic testing was consistently predicted with Mayo Score values.

keywords:

genetic mutations, hypertrophic cardiomyopathy, diagnostic value, genetic testing

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