No Diagnostic Yield from Genetic Screening for Young Athletes with T-Wave Inversion

Genetic testing in young athletes with T-wave inversion provided no diagnostic advantage beyond clinical evaluation, results from a new study in Circulation indicate. 

The authors investigated 50 consecutive black patients and 50 consecutive white patients (aged 14 to 35) with T-wave inversion who referred for cardiomyopathy and sports cardiology. Participants underwent exercise testing, ambulatory ECG, cardiac MRI and blood-based analysis of a 311-gene panel for cardiomyopathies and ion channel disorders related to T-wave inversion (including hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, left ventricular noncompaction, long-QT syndrome, and Brugada syndrome).

https://twitter.com/Prof_MatWilson/statuses/996707425964183553

According to the results, 21 patients were diagnosed with cardiac disease by clinical investigations, 8 of whom were gene positive and 13 of whom were gene negative. Of the remaining athletes, 79 were gene positive in the absence of a clinical phenotype. Newly diagnosed cardiomyopathy prevalence was higher in white athletes compared to black athletes (P=0.027), and hypertrophic cardiomyopathy accounted for 90.5% of all diagnoses.  

“Up to 10% of athletes with TWI revealed mutations capable of causing cardiac disease,” the authors write in their conclusion. “Despite the substantial cost, the positive diagnostic yield from genetic testing was one half that from clinical evaluation (10% versus 21%) and contributed to additional diagnoses in only 2.5% of athletes with TWI in the absence of a clear clinical phenotype, making it of negligible use in routine clinical practice.” 

Some answered questions to the cardiac assessment for athletes with #TWI, great paper coming from @SSharmacardio team @Aspetar team @_healthincode et al. So good being part of it! @nabeelsheikh99 deserves recognition for hard and long work on this @CircAHA https://t.co/04eIckQWzf

— Carmen Adamuz (@AdamuzC) May 16, 2018

Watch out, the pendulum is swinging the other way for EP genetics – "genetic testing … contributed to additional diagnoses in only 2.5% of athletes with [T wave inversion] … negligible use in routine clinical practice." https://t.co/dETVWsF8KQ

— Joel A. Kirsh, MD, MHCM (@joelakirsh) September 20, 2018

Excellent #cryresearch by @SSharmacardio @nabeelsheikh99 demonstrating why there needs to be caution when using #genetics in routine clinical practice when testing for #cardiomyopathy – @CRY_UK https://t.co/T6kHwUFV2U https://t.co/jprVCgYCgG

— Dr Steven Cox (@Drstevenjcox) May 17, 2018

Congratulations @nabeelsheikh99 @MichaelPapadak2 @AdamuzC @DrAneilMalhotra @SSharmacardio & coll of @StGeorgesUni for this other piece of the puzzle #genetics #athletes #sportCardiology #EAPC @DrJTriasDeBes @FlavioDascenzi @DOCTORASANZM @paolo_emilio @LSerratosa @Chrigi_Schmied https://t.co/6kEBxGbHus

— Silvia Castelletti (@SilCastelletti) September 20, 2018

Nice Circ paper in the genetics of cardiomyopathy in athletes… it is worth to screen! @MichaelPapadak2 @nabeelsheikh99 https://t.co/fJOZf1Z8cG

— Vass Vassiliou (@vass_vassiliou) May 16, 2018

Source: Circulation