Inferolateral T wave inversion in athletes: phenotype-genotype correlation

Cronin, Heather; Crinion, Derek; Kerins, David M.; Fahy, Gerard J.; Vaughan, Carl J.

doi:10.1007/s11845-020-02239-x

Cited by 3 publications

(5 citation statements)

References 13 publications

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“…These studies unveiled that the percentage of genotype-positive athletes is significant and contributes as an integrative diagnostic instrument in athletes selected on the basis of a strong clinical suspicion for inherited cardiac disease [ 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 49 , 50 ]. Indeed, Cronin et al demonstrated that, in a small cohort of athletes (N: 10), the evidence of TWI at ECG without a clinical phenotype was not related to a specific genetic background [ 48 ]. On the other hand, in the study conducted by Sheikh et al in 100 athletes with TWI at ECG, the genetic yield was 10%, as 10 athletes revealed a clear disease-causing variant.…”

Section: Discussionmentioning

confidence: 99%

“…Five studies carried out a genetic test on athlete populations, including white and black, elite and amateur athletes [ 45 , 46 , 47 , 48 , 49 , 50 ]. Among these, we excluded the study of Macarie et al [ 45 ], as the authors performed the genetic test using Multiple Ligation Dependent Probe Amplification (MLPA), exclusively, and did not precisely report the mutations found in the athletes.…”

Section: Diagnostic Yield Of Genetic Testing In Athletesmentioning

confidence: 99%

“…In 2020, we found two papers related to the issue of clinical significance of genetic screening in athletes ( Table 2 ) [ 48 , 50 ]. Cronin et al conducted a three-year prospective study, during which they selected 10 white male athletes showing TWI on ECG and phenotypically normal after clinical/instrumental evaluation.…”

Section: Diagnostic Yield Of Genetic Testing In Athletesmentioning

confidence: 99%

“…Cronin et al conducted a three-year prospective study, during which they selected 10 white male athletes showing TWI on ECG and phenotypically normal after clinical/instrumental evaluation. Analysing a panel of 133 genes associated with hereditary cardiomyopathies and channelopathies, they identified only variants of uncertain significance (VUS) in half of the athletes; therefore, they concluded that T wave inversion with a normal phenotype might be a benign athletic condition, although studies on larger populations are needed [ 48 ]. The recent study of Limongelli et al assessed the value of genetic testing in the diagnostic flow-chart of athletes [ 50 ].…”

Section: Diagnostic Yield Of Genetic Testing In Athletesmentioning

confidence: 99%

“…Similarly, post-mortem genetic studies identified molecular alterations that can be causative or con-causative of SCD in athletes [ 36 , 37 , 38 ]. However, in recent years, several studies have addressed the issue of using genetic testing in athletes showing instrumental abnormalities (ECG and/or echocardiogram and/or cardiac magnetic resonance) or family history of cardiomyopathy or SCD, with the aim of early diagnosis of life-threatening cardiac genetic disorders [ 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 ].…”

Section: Introductionmentioning

confidence: 99%

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The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers

Barretta

Mirra

Monda

et al. 2020

IJMS

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Sudden cardiac death (SCD) is a devastating event which can also affect people in apparent good health, such as young athletes. It is known that intense and continuous exercise along with a genetic background that predisposes a person to the risk of fatal arrhythmias is a trigger for SCD. Therefore, knowledge of the athlete’s genetic conditions underlying the onset of SCD must be extended, in order to develop new effective prevention and/or therapeutic strategies. Arrhythmic features occur across a broad spectrum of cardiac diseases, sometimes presenting with overlapping phenotypes. The genetic basis of arrhythmogenic disorders has been greatly highlighted in the last 30 years, and has shown marked heterogeneity. The advent of next-generation sequencing has constantly updated our understanding of the genetic basis of arrhythmogenic diseases and is laying the foundation for precision medicine. With the exception of a few clinical cases involving a single athlete showing a highly suspected phenotype for the presence of a heart disease, there are few studies to date that analysed the applicability of genetic testing on cohorts of athletes. This evidence shows that genetic testing can contribute to the diagnosis of up to 13% of athletes; however, the presence of clinical markers is essential. This review aims to provide a reference collection on current knowledge of the genetic basis of sudden cardiac death in athletes and to review updated evidence on the effectiveness of genetic testing in early identification of athletes at risk for SCD.

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