Inferolateral T wave inversion in athletes: phenotype-genotype correlation
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ORIGINAL ARTICLE
Inferolateral T wave inversion in athletes: phenotype-genotype correlation Heather Cronin 1
&
Derek Crinion 1 & David Kerins 1 & Gerry Fahy 2 & Carl J. Vaughan 1
Received: 26 February 2020 / Accepted: 16 April 2020 # Royal Academy of Medicine in Ireland 2020
Abstract Aims Significant T wave inversion in young asymptomatic athletes is rare but poses a significant clinical challenge. Preparticipation sports screening programs identify such subjects. Clinical concern that such ECG changes represent an occult cardiomyopathy or forme fruste hypertrophic cardiomyopathy leads to diagnostic and therapeutic dilemma. We sought to genotype a cohort of such subjects with a normal cardiac phenotype identified in our unit over a 3-year period. Methods Ten athletes were referred from external screening. All exhibited deep T wave inversion inferolaterally. All had negative family history for sudden death and had a normal phenotype. A panel of 133 cardiac genes were screened. Results Ten male subjects with mean age of 39 years were screened. Seven had no evidence of mutations. Three subjects demonstrated variants of uncertain significance in 5 different genes: alpha-2-actinin (ACTN2), myopalladin (MYPN), the calcium channel genes CACNA1C and TRPM4 and potassium channel gene KCNQ1. The variants found have not been described in cardiomyopathies or channelopathies. At 3-year follow-up, one patient had undergone detraining, and his ECG showed complete resolution of all T wave changes. He did not have any demonstrated variants. Conclusions The absence of mutations in target genes and heterogeneous sequence variations identified in this study suggest that inferolateral T wave inversion in athletes without a phenotype may potentially represent a benign repolarization syndrome related to athletic adaptation. This was the first study to assess a phenotype-genotype correlation in this population. Further genetic studies need to be undertaken in this area. Keywords Athletic adaptation . Cardiomyopathy . Genetics . Repolarization abnormalities . Sports screening . T wave inversion
Introduction Physiological adaptation to exercise can induce structural and electrical changes in the myocardium collectively referred to as the ‘athlete’s heart’. Patterns of diffuse abnormal repolarization are uncommon in young asymptomatic athletes and pose a diagnostic challenge. The proliferation of preparticipation screening programs has identified increasing numbers of subjects with this ECG pattern. Both the European Society of Cardiology and the American Heart
* Heather Cronin [email protected] 1
Mercy University Hospital, Cork, Ireland
2
Cork University Hospital, Cork, Ireland
Association Guidelines unequivocally state that marked T wave inversion is unrelated to athletic adaptation and may represent a forme fruste cardiomyopathy or channelopathy [1]. Wilson et al. looked at practical solutions for managing asymptomatic athletes with T wave inversion and normal imaging studies [2]. They proposed a clinical management pa
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