Acta Neurologica Belgica

, Volume 119, Issue 1, pp 77–82 | Cite as

Heart involvement in patients with myotonic dystrophy type 2

  • Stojan Peric
  • Bogdan Bjelica
  • Ksenija Aleksic
  • Masa Kovacevic
  • Edita Cvitan
  • Gorana Mandic Stojmenovic
  • Vidosava Rakocevic StojanovicEmail author
Original Article


Myotonic dystrophy type 2 (DM2) is a slowly progressive, autosomal-dominant disease. This is a multisystemic disorder that affects the heart, which is one of the main causes of morbidity and mortality in DM2. The aim of the study was to define cardiac impairments in patients with DM2 and its association with sociodemographic and clinical features of patients. This retrospective study comprised 62 adult patients with DM2 hospitalized at the Neurology Clinic, Clinical Center of Serbia from 2013 until 2018, who underwent electrocardiography (ECG) and echocardiography examinations. Hypertension was observed in 42% of DM2 patients. One-fifth of DM2 patients had bradycardia, while other conduction and rhythm impairments were rare. Only one patient had a pacemaker implanted because of the first degree AV block associated with incomplete left bundle branch block. Echocardiography showed diastolic dysfunction of the left ventricle in 44% of patients, while systolic dysfunction was found in only 4%. Cardiomyopathy was observed in 18% of patients, of whom three-fourth had dilated type. Cardiac conduction and rhythm defects are relatively rare in DM2, while diastolic dysfunction is common. This suggests that regular ECG and echocardiography screening is needed in DM2. Adequate therapy should be introduced in patients with DM2 on time to reduce the frequency of heart complications and to prevent premature death.


Myotonic dystrophy type 2 Electrocardiography Echocardiography Diastolic dysfunction Systolic dysfunction Cardiomyopathy 



This study was supported by the Ministry of Education, Science and Technological Development of the Republic of Serbia (Grant #175083).


This study was funded by the Ministry of Education, Science and Technological Development of the Republic of Serbia (Grant #175083).

Compliance with ethical standards

Conflict of interest

Stojan Peric declares that he has no conflict of interest. Bogdan Bjelica declares that he has no conflict of interest. Ksenija Aleksic declares that she has no conflict of interest. Masa Kovacevic declares that she has no conflict of interest. Edita Cvitan declares that she has no conflict of interest. Gorana Mandic Stojmenovic declares that she has no conflict of interest. Vidosava Rakocevic Stojanovic declares that she has no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This article does not contain any studies with animals performed by any of the authors.

Informed consent

Informed consent was obtained from all individual participants included in the study.


  1. 1.
    Finsterer J (2002) Myotonic dystrophy type 2. Eur J Neurol 9(5):441–447CrossRefGoogle Scholar
  2. 2.
    Johnson NE, Heatwole CR (2012) Myotonic dystrophy: from bench to bedside. Semin Neurol 32(3):246–254CrossRefGoogle Scholar
  3. 3.
    Feingold B, Mahle WT, Auerbach S, Clemens P, Domenighetti AA, Jefferies JL et al (2017) Circulation. In: Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association. pp, 1–31Google Scholar
  4. 4.
    Stojanovic VR, Peric S, Paunic T, Pavlovic S, Cvitan E, Basta I et al (2013) Cardiologic predictors of sudden death in patients with myotonic dystrophy type 1. J Clin Neurosci 20(7):1002–1006CrossRefGoogle Scholar
  5. 5.
    Sansone VA, Brigonzi E, Schoser B, Villani S, Gaeta M, De Ambroggi G et al (2013) The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): long-term outcomes. Int J Cardiol 168(2):1147–1153CrossRefGoogle Scholar
  6. 6.
    Meola G, Cardani R (2015) Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochem Biophys Acta 1852:594–606Google Scholar
  7. 7.
    Wahbi K, Meune C, Bécane HM, Laforêt P, Bassez G, Lazarus A et al (2009) Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: a case control study. Neuromuscul Disord 19(7):468–472CrossRefGoogle Scholar
  8. 8.
    Choudhary P, Nandakumar R, Greig H, Broadhurst P, Dean J, Puranik R et al (2016) Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy. Heart 102(18):1472–1478CrossRefGoogle Scholar
  9. 9.
    Schara U, Schoser BGH (2006) Myotonic dystrophies type 1 and 2: a summary on current aspects. Semin Pediatr Neurol 13(2):71–79CrossRefGoogle Scholar
  10. 10.
    Udd B, Krahe R (2012) The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 11(10):891–905CrossRefGoogle Scholar
  11. 11.
    Peric S, Maksimovic R, Banko B, Durdic M, Bjelica B, Bozovic I, Balcik Y, Pesovic J, Savic-Pavicevic D, Rakocevic-Stojanovic V (2017) Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies. J Neurol 264(9):1899–1908CrossRefGoogle Scholar
  12. 12.
    Paunic T, Peric S, Cvitan E, Raspopovic S, Peric M, Mandic Stojmenovic G et al (2017) Routine echocardiography in patients with myotonic dystrophy type 1. J Chinese Med Assoc 80(7):408–412CrossRefGoogle Scholar
  13. 13.
    Vujnic M, Peric S, Popovic S, Raseta N, Ralic V, Dobricic V et al (2015) Metabolic syndrome in patients with myotonic dystrophy type 1. Muscle Nerve 52(2):273–277CrossRefGoogle Scholar
  14. 14.
    Ha AH, Tarnopolsky MA, Bergstra TG, Nair GM, Al-qubbany, Healey JS (2012) Predictors of atrio-ventricular conduction disease, long-term outcomes in patients with myotonic dystrophy types I and II. Pacing Clin Electrophysiol 35(10):1262–1269CrossRefGoogle Scholar
  15. 15.
    Yang G, Sau C, Lai W, Cichon J, Li W (2015) HHS Public Access 344(6188):1173–1178Google Scholar
  16. 16.
    Montagnese F, Mondello S, Wenninger S, Kress W, Schoser B (2017) Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. J Neurol 264(12):2472–2480CrossRefGoogle Scholar
  17. 17.
    Schoser BG, Ricker K, Schneider-Gold C, Hengstenberg C, Dürre J, Bültmann B, Kress W, Day JW, Ranum LP (2004) Sudden cardiac death in myotonic dystrophy type 2. Neurology 63(12):2402–2404CrossRefGoogle Scholar
  18. 18.
    Perfetti A, Greco S, Fasanaro P, Bugiardini E, Cardani R, Garcia-Manteiga JM, Riba M, Cittaro D, Stupka E, Meola G, Martelli F (2014) Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2. PLoS One 9(4):e93983CrossRefGoogle Scholar
  19. 19.
    Schmacht L, Traber J, Grieben U, Utz W, Dieringer MA, Kellman P et al (2016) Cardiac involvement in myotonic dystrophy type 2 patients with preserved ejection fraction: Detection by cardiovascular magnetic resonance. Circ Cardiovasc Imaging 9(7):1–11CrossRefGoogle Scholar
  20. 20.
    Romeo V (2012) Myotonic dystrophy type 1 or Steinert’s disease. Adv Exp Med Biol 724:239–257CrossRefGoogle Scholar
  21. 21.
    Bhatia RS, Tu JV, Lee DS, Austin PC, Fang J, Haouzi A et al (2006) Outcome of heart failure with preserved ejection fraction in a population-based study. N Engl J Med 355(3):260–269CrossRefGoogle Scholar
  22. 22.
    Lau JK, Sy RW, Corbett A, Kritharides L (2015) Myotonic dystrophy and the heart: a systematic review of evaluation and management. Int J Cardiol 184(1):600–608CrossRefGoogle Scholar
  23. 23.
    Mace CR, Akbulut O, Kumar AA, Shapiro ND, Derda R, Patton MR et al (2014) NIH Public Access 134(22):1–10Google Scholar

Copyright information

© Belgian Neurological Society 2018

Authors and Affiliations

  • Stojan Peric
    • 1
  • Bogdan Bjelica
    • 1
  • Ksenija Aleksic
    • 1
  • Masa Kovacevic
    • 1
  • Edita Cvitan
    • 1
  • Gorana Mandic Stojmenovic
    • 1
  • Vidosava Rakocevic Stojanovic
    • 1
    Email author
  1. 1.Neurology Clinic, Clinical Centre of Serbia, School of MedicineUniversity of BelgradeBelgradeSerbia

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