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Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations.

Publication ,  Journal Article
Sawant, AC; Bhonsale, A; te Riele, ASJM; Tichnell, C; Murray, B; Russell, SD; Tandri, H; Tedford, RJ; Judge, DP; Calkins, H; James, CA
Published in: J Am Heart Assoc
December 2014

BACKGROUND: Exercise is associated with age‐related penetrance and arrhythmic risk in carriers of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)‐associated desmosomal mutations; however, its role in patients without desmosomal mutations (gene‐elusive) is uncertain. This study investigates whether exercise is (1) associated with onset of gene‐elusive ARVD/C and (2) has a differential impact in desmosomal and gene‐elusive patients. METHODS AND RESULTS: Eighty‐two ARVD/C patients (39 desmosomal, all probands) were interviewed about regular physical activity from age 10. Participation in endurance athletics, duration (hours/year), and intensity (MET‐Hours/year) of exercise prior to clinical presentation were compared between patients with desmosomal and gene‐elusive ARVD/C. All gene‐elusive patients were endurance athletes. Gene‐elusive patients were more likely to be endurance athletes (P<0.001) and had done significantly more intense (MET‐Hrs/year) exercise prior to presentation (P<0.001), particularly among cases presenting < age 25 (P=0.027). Family history was less prevalent among gene‐elusive patients (9% versus 40% desmosomal, P<0.001), suggesting a greater environmental influence. Gene‐elusive patients without family history did considerably more intense exercise than other ARVD/C patients (P=0.004). Gene‐elusive patients who had done the most intense (top quartile MET‐Hrs/year) exercise prior to presentation had a younger age of presentation (P=0.025), greater likelihood of meeting ARVD/C structural Task Force Criteria (100% versus 43%, P=0.02), and shorter survival free from a ventricular arrhythmia in follow‐up (P=0.002). CONCLUSIONS: Gene‐elusive, non‐familial ARVD/C is associated with very high intensity exercise suggesting exercise has a disproportionate role in the pathogenesis of these cases. As exercise negatively modifies cardiac structure and promotes arrhythmias, exercise restriction is warranted.

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Published In

J Am Heart Assoc

DOI

EISSN

2047-9980

Publication Date

December 2014

Volume

3

Issue

6

Start / End Page

e001471

Location

England

Related Subject Headings

  • Young Adult
  • Risk Factors
  • Retrospective Studies
  • Registries
  • Phenotype
  • Pedigree
  • Mutation
  • Middle Aged
  • Male
  • Interviews as Topic
 

Citation

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Sawant, A. C., Bhonsale, A., te Riele, A. S. J. M., Tichnell, C., Murray, B., Russell, S. D., … James, C. A. (2014). Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations. J Am Heart Assoc, 3(6), e001471. https://doi.org/10.1161/JAHA.114.001471
Sawant, Abhishek C., Aditya Bhonsale, Anneline S. J. M. te Riele, Crystal Tichnell, Brittney Murray, Stuart D. Russell, Harikrishna Tandri, et al. “Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations.J Am Heart Assoc 3, no. 6 (December 2014): e001471. https://doi.org/10.1161/JAHA.114.001471.
Sawant AC, Bhonsale A, te Riele ASJM, Tichnell C, Murray B, Russell SD, et al. Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations. J Am Heart Assoc. 2014 Dec;3(6):e001471.
Sawant, Abhishek C., et al. “Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations.J Am Heart Assoc, vol. 3, no. 6, Dec. 2014, p. e001471. Pubmed, doi:10.1161/JAHA.114.001471.
Sawant AC, Bhonsale A, te Riele ASJM, Tichnell C, Murray B, Russell SD, Tandri H, Tedford RJ, Judge DP, Calkins H, James CA. Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations. J Am Heart Assoc. 2014 Dec;3(6):e001471.
Journal cover image

Published In

J Am Heart Assoc

DOI

EISSN

2047-9980

Publication Date

December 2014

Volume

3

Issue

6

Start / End Page

e001471

Location

England

Related Subject Headings

  • Young Adult
  • Risk Factors
  • Retrospective Studies
  • Registries
  • Phenotype
  • Pedigree
  • Mutation
  • Middle Aged
  • Male
  • Interviews as Topic