Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion

Circulation
Nabeel SheikhS Sharma

Abstract

T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. We investigated 50 consecutive asymptomatic black and 50 white athletes 14 to 35 years of age with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology. Subjects underwent exercise testing, 24-hour ambulatory ECG, signal-averaged ECG, cardiac magnetic resonance imaging, and a blood-based analysis of a comprehensive 311-gene panel for cardiomyopathies and ion channel disorders associated with TWI, including hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, left ventricular noncompaction, long-QT syndrome, and Brugada syndrome. In total, 21 athletes (21%) were diagnosed with cardiac disease on the basis of comprehensive clinical investigations. Of these, 8 (38.1%) were gene positive (myosin ...Continue Reading

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Citations

Oct 28, 2018·Current Treatment Options in Cardiovascular Medicine·Daniel X Augustine, Liz Howard
Jul 4, 2020·European Journal of Preventive Cardiology·Giuseppe LimongelliFrancesco Salvatore
Jan 12, 2020·Clinical Cardiology·Belinda Gray, Christopher Semsarian
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Methods Mentioned

BETA
genotyping
Exome Sequencing

Software Mentioned

Genome Analysis Toolkit
bcftools
Samtools
SIFT
Novoalign
Annovar
PolyPhen
MutationTaster2
SPSS

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