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Diastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1

Neurological Sciences volume 39, pages 1935–1943 (2018)Cite this article

Abstract

The aims of this study were to investigate the correlations of tri-nucleotide (CTG) repeat length with detailed echocardiography (ECHO) parameters that represent myocardial function and to find a relationship between heart function and CTG repeat length in adult-onset myotonic dystrophy type 1 (DM1). In this study, clinical data for patients with DM1, including age, onset age, CTG repeat length, Medical Research Council sum score (MRCSS), and 6-min walking test (6MWT), were recorded. In addition, ECHO parameters and cardiac conduction abnormalities were evaluated. Among the cardiac parameters, the EA ratio and left ventricular end-diastolic dimension (LVEDD) were significantly correlated with the CTG repeat length (p < 0.05). Interventricular septal thickness at end-diastole was also significantly correlated with the 6MWT in a multivariate linear regression model (p < 0.05). In conclusion, motor function (MRCSS and 6MWT) and CTG repeat length significantly correlated with LV diastolic dysfunction in patients with DM1. More emphasis should be given to diastolic dysfunction, which is currently under-recognized, when evaluating patients with DM1 with no abnormalities in routine electrocardiography studies. Lastly, well-designed and longitudinal studies are warranted to characterize and understand the pathophysiology of diastolic dysfunction in DM1.

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Funding

This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT and Future Planning (NRF- 2017R1D1A1B03033127).

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Affiliations

  1. Department of Neurology, School of Medicine, Kyungpook National University Chilgok hospital, Daegu, South Korea

    Jin-Sung Park

  2. Department of Internal Medicine, Kyungpook National University, School of Medicine, Daegu, South Korea

    Namkyun Kim

  3. Department of Rehabilitation Medicine, Daegu Fatima Hospital, Ayangro 99, Dong gu, Daegu, 41199, Republic of Korea

    Donghwi Park

Authors
  1. Jin-Sung Park
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  2. Namkyun Kim
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  3. Donghwi Park
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Corresponding author

Correspondence to Donghwi Park.

Ethics declarations

This study was approved by the Institutional Review Board of medical center. The study protocol conforms to the ethical guidelines of the 1975 Declaration of Helsinki as reflected in a priori approval by the institution’s human research committee. Clinical, genetic, and ECHO data were retrieved for these patients.

Conflict of interest

The authors declare that they have no conflict of interest.

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Park, JS., Kim, N. & Park, D. Diastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1. Neurol Sci 39, 1935–1943 (2018). https://doi.org/10.1007/s10072-018-3530-z

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  • DOI: https://doi.org/10.1007/s10072-018-3530-z

Keywords

  • Myotonic dystrophy type 1
  • Myocardial dysfunction
  • CTG repeat
  • Left ventricle diastolic dysfunction
  • Aerobic exercise
  • Myotonia