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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F19%3A10394262" target="_blank" >RIV/00064203:_____/19:10394262 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/19:10394262

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=_5e1_mmjbC" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=_5e1_mmjbC</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.5114/aoms.2018.78767" target="_blank" >10.5114/aoms.2018.78767</a>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30201 - Cardiac and Cardiovascular systems

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2019

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Archives of Medical Science

ISSN

1734-1922

e-ISSN

—

Volume of the periodical

15

Issue of the periodical within the volume

3

Country of publishing house

PL - POLAND

Number of pages

9

Pages from-to

641-649

UT code for WoS article

000466336500010

EID of the result in the Scopus database

2-s2.0-85065254311