Relation of CTG expansion and clinical variables to electrocardiogram conduction abnormalities and sudden death in patients with myotonic dystrophy

Neuromuscular Disorders

Volumn 13, Issue 10, 2003, Pages 822-826

  Sabovic M ^a   Medica, I ^a,b   Logar, N ^a   Mandic E ^c   Zidar, J ^a   Peterlin, B ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^b Paediatric Outpatient Department   (Croatia)

^c Department of Cardiology   (Croatia)

Author keywords

Conduction abnormalities; CTG repeat expansion; Myotonic dystrophy; Sudden death

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE; PROTEIN KINASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE; AGED; ARTICLE; ARTIFICIAL HEART PACEMAKER; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE DURATION; ECG ABNORMALITY; ELECTROCARDIOGRAPHY; FEMALE; HEART CONDUCTION; HEART DISEASE; HOLTER MONITORING; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOTONIC DYSTROPHY; PREDICTION; PRIORITY JOURNAL; RISK ASSESSMENT; SEX DIFFERENCE; SUDDEN DEATH; SYNCOPE; TRINUCLEOTIDE REPEAT;

EID: 0346849955     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00138-X     Document Type: Article

References (29)

1. Harper P.S. Myotonic dystrophy. 3rd ed. 2001;WB Saunders, London.
2. Hawley R.J., Milner M.R., Gottdeiner J.S., Cohen A. Myotonic heart disease: a clinical follow up. Neurology. 41:1991;259-262.
3. Fragola P.V., Autore C., Magni G., Antonini G., Picelli A., Cannata D. The natural course of cardiac conduction disturbances in myotonic dystrophy. Cardiology. 79:1991;93-98.
4. Hiromasa S., Ikeda T., Kubota K., et al. Ventricular tachycardia and sudden death in myotonic dystrophy. Am Heart J. 115:1988;914-915.
5. de Die Smulders C.E.M., Howeler C.J., Thijs C., et al. Age and causes of death in adult-onset myotonic dystrophy. Brain. 121:1998;1557-1563.
6. Mathieu J., Allard P., Potvin L., Prevost C., Begin P. A 10-years study of mortality in a cohort of patients with myotonic dystrophy. Neurology. 52:1999;1558-1562.
7. Harley H.G., Brook J.D., Rundle S.A., et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 355:1992;545-546.
8. Buxton J., Shelbourne P., Davies J., et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature. 355:1992;547-548.
9. Aslanidis C., Jansen G., Amemiya C., et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature. 355:1992;548-551.
10. Harley H.G., Rundle S.A., Reardon W., et al. Unstable DNA sequence in myotonic dystrophy. Lancet. 339:1992;1125-1128.
11. Brunner H.G., Nillesen W., vanOost B.A., et al. Presymptomatic diagnosis of myotonic dystrophy. J Med Genet. 29:1992;780-784.
12. Finsterer J., Stollberger C., Kocher K., Mamoli B. ECG abnormalities in myopathies, coronary heart disease, and controls. Herz. 22:1997;277-282.
13. Melacini P., Villanova C., Menegazzo E., et al. Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy. J Am Coll Cardiol. 25:1995;239-245.
14. Tokgozoglu L.S., Ashizawa T., Pacifico A., Armstrong R.M., Epstein H.F., Zoghbi W.A. Cardiac involvement in a large kindred with myotonic dystrophy. Quantitative assessment and relation to size of CTG repeat expansion. J Am Med Assoc. 274:1995;813-819.
15. Hayashi Y., Ikeda U., Kojo T., et al. Cardiac abnormalities and cytosine-thymine-guanine trinucleotide repeats in myotonic dystrophy. Am Heart J. 134:1997;292-297.
16. Lazarus A., Varin J., Ounnoughene Z., et al. Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy. Circulation. 99:1999;1041-1046.
17. Antonini G., Giubilei F., Mammarella A., et al. Natural history of cardiac involvement in myotonic dystrophy: correlation with CTG repeats. Neurology. 55:2000;1207-1209.
18. Clarke N.R., Kelion A.D., Nixon J., Hilton-Jones D., Forfar J.C. Does cytosine-thymine-guanine (CTG) expansion size predict cardiac events and electrocardiographic progression in myotonic dystrophy? Heart. 86:2001;411-416.
19. Finsterer J., Gharehbaghi-Schnell E., Stollberger C., Fheodoroff K., Seiser A. Relation of cardiac abnormalities and CTG-repeat size in myotonic dystrophy. Clin Genet. 59:2001;350-355.
20. Groh W.J., Lowe M.R., Zipes D.P. Severity of cardiac conduction involvement and arrhythmias in myotonic dystrophy type 1 correlates with age and CTG repeat length. J Cardiovasc Electrophysiol. 13:2002;444-448.
21. Merlevede K., Vermander D., Theys P., Ector H., Robberecht W. Cardiac involvement and CTG expansion in myotonic dystrophy. J Neurol. 249:2002;693-698.
22. Griggs R.C., Wood D.S. Criteria for establishing the validity of genetic recombination in myotonic dystrophy. Neurology. 39:1989;420-421.
23. Mathieu J., de Braekeleer M., Prevost C., Boily C. Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogenous mutation. Neurology. 42:1992;203-208.
24. Brook J.D., McCurrach M.E., Harley H.G., et al. Molecular basis of myotonic dystrophy: expansion of trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell. 68:1992;799-803.
25. Medica I., Marković D., Peterlin B. Genetic epidemiology of myotonic dystrophy in Istria, Croatia. Acta Neurol Scand. 95:1997;164-166.
26. Fragola P.V., Luzi M., Calo L., et al. Cardiac involvement in myotonic dystrophy. Am J Cardiol. 74:1994;1070-1072.
27. Olofsson B.O., Forsberg H., Andersson S., Bjerle P., Henrikson A., Wedin I. Electrocardiographic findings in myotonic dystrophy. Br Heart J. 59:1988;47-52.
28. Colleran J.A., Hawley R.J., Pinnow E.E., Kokkinos P.F., Fletcher R.D. Value of the electrocardiogram in determining cardiac events and mortality in myotonic dystrophy. Am J Cardiol. 80:1997;1494-1497.
29. Melacini P., Bujor G., Fasoli G., et al. The natural history of cardiac involvement in myotonic dystrophy: an eight-year follow-up in 17 patients. Clin Cardiol. 11:1988;231-238.