Duchenne Muscular Dystrophy: Prevalence and patterns of cardiac involvement
Purchase on Springer.com
$39.95 / €34.95 / £29.95*
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.
In about 10% cases of Duchenne muscular dystrophy (DMD), death is due to cardiac dysfunction. The recognition of cardiomyopathy in DMD is thus important.Objective: To assess cardiac involvement in DMD patients by clinical, radiographic, electrocardiographic (ECG) and echocardiographic monitoring and correlate clinical parameters, CPK levels, presence of gene deletion and steroid therapy with cardiac involvement.Methods: Thirty patients beyond 6 years age, with DMD in advanced stage disease/non-ambulatory were recalled. A detailed clinical evaluation, CPK levels, gene deletion studies were carried out. Cardiac investigations included Chest X-ray, 12 lead ECG and echocardiography.Results: Nineteen patients were non-ambulatory at the time of enrollment. Symptoms or signs suggestive of cardiac dysfunction were seen in only 10%. Gene deletion was identified in 70.3%. Around one-third patients had cardiomegaly. ECG abnormalities were present in 93.3% patients and commonest abnormality was R> 4 mm in V1. Ejection fraction (EF) < 55% was observed in 64.2% and EF < 50% in 17.8%.Conclusion: Cardiomyopathy of DMD is characterized by lack of symptoms and few physical signs. Presence of subtle changes like sinus tachycardia may suggest early cardiac involvement. Thus echocardiography is required for evaluation of cardiac dysfunction. Presence of gene deletion was associated with higher CT ratio. Older children have been found to have higher heart rates. No other significant correlation with clinical parameters, CPK levels, genotype and steroid therapy was observed. Early detection possibly leads to appropriate treatment thus reducing the morbidity.
- Brooks AP, Emery AEH. The incidence of Duchenne muscular dystrophy in the South East of Scotland.Clin Genet 1977; 11: 290–294. CrossRef
- Monckton G, Hoskin V, Warren S. Prevalence and incidence of muscular dystrophy in Alberta, Canada.Clin Genet 1982; 21: 19–24. CrossRef
- Moser H. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.Hum Genet 1984; 66:17–40. CrossRef
- Tangsrud Se, Halvorsen S. Child neuromuscular disease in South Norway.Ada Paediatr Scand 1989; 78:100–103. CrossRef
- Emery AEH.Genetics, Duchenne Muscular Dystrophy, 2nd edn. New york; Oxford University Press, 1993:148–167.
- Engel Ag, Yamamoto M, Fischbeck KH. Dystrophinopathies. In Engel AG, Franzini-Armstrong, eds.Myology: Basic and Clinical. 2nd edn. Mc Graw Hill, New York; 1994; 1133–1187.
- Hoffman EP, Fischbeck Kh, Brown RHet al. Characterisation of dystrophin in muscle biopsy specimens from patients with Duchenne or Becker’s muscular dystrophy.N Engl J Med 1988; 318:1363–1368. CrossRef
- Evans Bk, Goyne C. Duchenne muscular duystrophy: Review and recent scientific findings.Am J Med Sci 1991; 302:118–123. CrossRef
- Boland BJ, Silbert PL, Groover RV, Wollan PC, Silverstein MD. Skeletal, cardiac and smooth muscle failure in Duchenne muscular dystrophy.Pediatr Neurol 1996; 12: 7–12. CrossRef
- Manning GW, Cropp GJ. The electro-cardiogram in progressive muscular dystrophy.Br Heart J 1958; 20: 416–420. CrossRef
- Gilroy J, Cahalan JL, Berman R, Newman M. Cardiac and Pulmonary complications in Duchenne’s progressive muscular dystrophy.Circulation 1963; 27:484–493.
- Wahi PL. Cardiac changes in myopathy.Am Heart J 1963; 66: 748–754. CrossRef
- Lowenstein AS, Arbeit SR, Rubin IL. Cardiac involvement in progressive muscular dystrophy: An electrocardiographic and ballisto-cardiographic study.Am J Cardiol 1962; 9: 528–537 CrossRef
- Perloff JK, de Leon AC Jr, O’Doherty D. The cardiomyopathy of progressive muscular dystrophy.Circulation 1966; 33: 625–648.
- D’Orsogna L, O’Shea JP, Miller G. Cardiomyopathy of Duchenne muscular dystrophy.Pediatr Cardiol 1988; 9: 205–213. CrossRef
- Ahuja R, Kalra V, Saxena A, Dua T. Prevalence and patterns of cardiac involvement in Duchenne muscular dystrophy.Indian Pediatr 2000; 37:1246–1251.
- Heymsfield SB, McNish T, Perkins JV, Feiner JM. Sequence of cardiac changes in Duchenne muscular dystrophy.Am Heart J 1978; 95:283–294. CrossRef
- Nigro G, Comi LI, Politano L, Bain RJI. The incidence and evaluation of cardiomyopathy in Duchenne muscular dystrophy.Int J Cardiol 1990; 26:271–277. CrossRef
- Utsunomiya T, Mori H, Shibuya N, Oku Y, Matsuo S, Hasiba K. Long term observation of cardiac function in Duchenne’s muscular dystrophy: Evaluation using systolic time intervals and echocardiography.Jpn Heart J 1990; 31: 585–597.
- Yanagisawa A, Miyagawa M, Yotsukura M, Tsuva T, Shirato C, Ishihara Tet al. The prevalence and prognostic significance of arrhythmias in Duchenne muscular dystrophy.Am Heart J 1992; 124:1244–1250. CrossRef
- Bhattacharya KB, Basu N, Ray TN, Maity B. Profile of electrocardiographic changes in Duchenne muscular dystrophy.J Indian Med Assoc 1997; 95: 40–47.
- Swinyard CA, Deaver GG, Grenspan L. Gradients of functional ability of importance in rehabilitation of patients with progressive muscular and neuromuscular diseases.Arch Phys Med 1957; 38: 574–579.
- Ishikawa K, Kanemitsu H, Ishibara T, Tamura T, Shimada H, Inove M. Echocardiographic study of the Duchenne type of progressive muscular dystrophy.Jpn Circ J 1981; 45: 295–301.
- Gunteroth WG.Pediatrie Electrocardiography. Philadelphia, W.B. Saunders, 1967: 23–27.
- Sahn DJ, Demaria A, Kisslo J, Weyman A. The committee on M-mode standardization of the American Society of Echocardiography: Results of a survey of echocardiographic measurements.Circulation 1978; 58:1072–1107.
- Cheitlin MD, Alpert JS, Armstrong WFet al. ACC/AHA guidelines for the clinical application of echocardiography: executive summary.J Am Coll Cardiol 1997; 29: 862–879. CrossRef
- Farah MG, Evans EB, Vignos PJ Jr. Echocardiographic evaluation of left ventri-cular function in Duchenne’s muscular dys-trophy.Am J Med 1980; 69: 248–254. CrossRef
- Hunsaker RH, Fulkerson PK, Barry FJ, Lewis RP, Leier CV, Unverferth DV. Cardiac function in Duchenne’s muscular dystrophy: Results of 10-year follow-up study and noninvasive tests.Am J Med 1982; 73: 235–238. CrossRef
- Sanyal SK, Johnson WW, Thapar MK, Pitner SE. An ultrastructural basis for electrocardio-graphic alterations associated with Duchenne’s progressive muscular dystrophy.Circulation 1978; 57: 1122–1129.
- Frankel KA, Rosser RJ. The pathology of the heart in progressive muscular dystrophy: Epimyocardial fibrosis.Human Pathol 1976; 7: 375–386. CrossRef
- Perloff JK, Cardiac rhythm and conduction in Duchenne’s muscular dystrophy: A pros-pective study of 20 patients.J Am Coll Cardiol 1984; 3:1263–1268. CrossRef
- Nagai T. Prognostic evaluation of congestive heart failure in patients with Duchenne muscular dystrophy-Retrospective study using noninvasive cardiac function tests.Jpn Circulation J 1989; 53:406–415.
- Brockmeier K, Schmitz L, von Moers A, Koch H, Vogel M, Bein G. X-chromosomal (p 21) muscular dystrophy and left ventricular diastolic and systolic function.Pediatr Cardiol 1998; 19: 139–144. CrossRef
- Nigro G, Politano L, Nigro V, Petretta VR, Comi LI. Mutation of dystrophin gene and cardiomyopathy.Neuromuscul Disor 1994; 4: 371–379. CrossRef
- Duchenne Muscular Dystrophy: Prevalence and patterns of cardiac involvement
The Indian Journal of Pediatrics
Volume 72, Issue 5 , pp 389-393
- Cover Date
- Print ISSN
- Online ISSN
- Springer India
- Additional Links
- Duchenne muscular dystrophy
- Industry Sectors