Skip to main content
SpringerLink
Log in

Inferolateral T wave inversion in athletes: phenotype-genotype correlation

  • Original Article
  • Published:
Irish Journal of Medical Science (1971 -) Aims and scope Submit manuscript

Abstract

Aims

Significant T wave inversion in young asymptomatic athletes is rare but poses a significant clinical challenge. Pre-participation 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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Maron B, Thompson P, Ackerman MJ, Balady G, Berger S, Cohen D, Dimeff R, Douglas P, Glover D, Hutter A, Krauss M, Maron MS, Mitten M, Roberts W, Puffer J (2007) Recommendations and considerations related to preparticipation screening for cardiovascular abnormalities in competitive athletes: 2007 update: a scientific statement from the American Heart Association Council on Nutrition, Physical Activity, and Metabolism: endorsed by the American College of Cardiology Foundation. Circulation 115(12):1643–1655

    Article  Google Scholar 

  2. Wilson MG, Sharma S, Carré F, Charron P, Richard P, O'Hanlon R, Prasad SK, Heidbuchel H, Brugada J, Salah O, Sheppard M, George KP, Whyte G, Hamilton B, Chalabi H (2012) Significance of deep T-wave inversions in asymptomatic athletes with normal cardiovascular examinations: practical solutions for managing the diagnostic conundrum. Br J Sports Med 46:i51–i58

    Article  Google Scholar 

  3. Drezner JA, Ackerman MJ, Anderson J, Ashley E, Asplund CA, Baggish AL, Börjesson M, Cannon BC, Corrado D, DiFiori JP, Fischbach P (2013) Electrocardiographic interpretation in athletes: the ‘Seattle criteria’. Br J Sports Med 47(3):122–124

    Article  Google Scholar 

  4. Pelliccia A, Culasso F, Di Paolo FM, Accettura D, Cantore R, Castagna W, Ciacciarelli A, Costini G, Cuffari B, Drago E, Federici V, Gribaudo CG, Iacovelli G, Landolfi L, Menichetti G, Atzeni UO, Parisi A, Pizzi AR, Rosa M, Santelli F, Santilio F, Vagnini A, Casasco M, Di Luigi L (2007) Prevalence of abnormal electrocardiograms in a large, unselected population undergoing pre-participation cardiovascular screening. Eur Heart J 28(16):2006–2010

    Article  Google Scholar 

  5. Sharma S (2003) Athlete’s heart–effect of age, sex, ethnicity and sporting discipline. Exp Physiol 88:665–669

    Article  Google Scholar 

  6. Basavarajaiah S, Wilson M, Junagde S, Jackson G, Whyte G, Sharma S (2006) Physiological left ventricular hypertrophy or hypertrophic cardiomyopathy in an elite adolescent athlete: role of detraining in resolving the clinical dilemma. Br J Sports Med 40(8):727

    Article  CAS  Google Scholar 

  7. Pelliccia A, Fagard R, Bjørnstad HH, Anastassakis A, Arbustini E, Assanelli D, Biffi A, Borjesson M, Carrè F, Corrado D, Delise P (2005) Recommendations for competitive sports participation in athletes with cardiovascular disease A consensus document from the study group of sports cardiology of the working group of cardiac rehabilitation and exercise physiology and the working group of myocardial and pericardial diseases of the European Society of Cardiology. Eur Heart J 26(14):1422–1445

    Article  Google Scholar 

  8. Sheikh N, Papadakis M, Carré F, Kervio G, Panoulas VF, Ghani S, Zaidi A, Gati S, Rawlins J, Wilson MG, Sharma S (2013) Cardiac adaptation to exercise in adolescent athletes of African ethnicity: an emergent elite athletic population. Br J Sports Med 47:585–592

    Article  Google Scholar 

  9. Papadakis M, Carre F, Kervio G, Rawlins J, Panoulas VF, Chandra N, Basavarajaiah S, Carby L, Fonseca T, Sharma S (2011) The prevalence, distribution, and clinical outcomes of electrocardiographic repolarization patterns in male athletes of African/Afro-Caribbean origin. Eur Heart J 32:2304–2313

    Article  Google Scholar 

  10. Schnell F, Riding N, O’Hanlon R, Lentz PA, Donal E, Kervio G, Matelot D, Leurent G, Doutreleau S, Chevalier L, Guerard S, Wilson MG, Carré F (2015) Recognition and significance of pathological T-wave inversions in athletes. Circulation. 131:165–173

    Article  Google Scholar 

  11. Pelliccia A, Di Paolo FM, Quattrini FM, Basso C, Culasso F, Popoli G, De Luca R, Spataro A, Biffi A, Thiene G, Maron BJ (2008) Outcomes in athletes with marked ECG repolarization abnormalities. N Engl J Med 358:152–161

    Article  CAS  Google Scholar 

  12. Sheikh N, Papadakis M, Wilson M, Malhotra A, Adamuz C, Homfray T, Monserrat L, Behr ER, Sharma S (2018) Diagnostic yield of genetic testing in young athletes with T-wave inversion. Circulation 138(12):1184–1194

    Article  Google Scholar 

  13. Dooijes D, Siemelink M, Baas AF (2019) Evaluation of gene panels for inherited cardiac disease—is less more? Neth Hear J 27(6):297–298

    Article  CAS  Google Scholar 

Download references

Acknowledgements

The authors wish to acknowledge Ed Donovan and the team at Advance Medical Services, Cork, for their contribution of participants. We also wish to acknowledge Blueprint Genetics for their genotyping.

Availability of data and material

All data is available on request.

Funding

Funding for the genotyping was provided by the Mercy Hospital Foundation.

Author information

Authors and Affiliations

  1. Mercy University Hospital, Cork, Ireland

    Heather Cronin, Derek Crinion, David Kerins & Carl J. Vaughan

  2. Cork University Hospital, Cork, Ireland

    Gerry Fahy

Authors
  1. Heather Cronin
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Derek Crinion
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. David Kerins
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Gerry Fahy
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Carl J. Vaughan
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All authors contributed to the study conception and design. All authors contributed to and reviewed the final manuscript.

Corresponding author

Correspondence to Heather Cronin.

Ethics declarations

Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethics approval

Ethical approval was granted by the Clinical Research and Ethics Committee of the Cork teaching hospitals.

Consent to participate

Informed written consent was obtained from all participants prior to enrolment.

Consent for publication

All participants consented to the data being published in an anonymised manner.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Appendix

Appendix

Blueprint Genetics Heart panel (version 1.1, updated May 6, 2014) consists of genes associated with hereditary cardiomyopathies and channelopathies:

ABCC9, ACADVL, ACTC1, ACTN2, AGL, AKAP9, ANK2, ANKRD1, ATP5E, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1

CALM2, CALR3, CASQ2, CAV3, CBL, COA5, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DMPK, DNAJC19, DNM1L, DOLK, DPP6, DSC2, DSG2, DSP, DTNA

EMD, EYA4, FHL1, FHL2, FKTN, FOXRED1, FXN, GAA, GATAD1, GLA, GLB1, GPD1L, GUSB, HCN4, HFE, HRAS, ILK, JPH2, JUP, KCND3, KCNE1, KCNE1L

KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MRPL3, MIB1, MYBPC3, MYH6, MYH7

MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NOS1AP, NRAS, PDLIM3, PKP2, PLN, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF

RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCD, SHOC2, SLC25A3, SLMAP, SNTA1, SOS1, SPRED1, SYNE1, SYNE2, TAZ

TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, XK

The panel is targeting all protein coding exons and exon-intron boundaries of all target genes. It also covers a number of mutations located outside these coding regions.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Cronin, H., Crinion, D., Kerins, D. et al. Inferolateral T wave inversion in athletes: phenotype-genotype correlation. Ir J Med Sci 189, 1283–1287 (2020). https://doi.org/10.1007/s11845-020-02239-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11845-020-02239-x

Keywords

Search

Navigation