Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy

Circulation

Volumn 94, Issue 12, 1996, Pages 3168-3175

  Melacini, Paola ^a   Fanin, M ^a   Danieli, G A ^a   Villanova, C ^a   Martinello, F ^a   Miorin, M ^a   Freda, M P ^a   Miorelli, M ^a   Mostacciuolo, M L ^a   Fasoli, G ^a   Angelini, C ^a   Dalla Volta, S ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

cardiomyopathy; echocardiography; molecular biology; muscles

Indexed keywords

CREATINE KINASE; DNA; DYSTROPHIN;

ADOLESCENT; ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; GENE; GENE MUTATION; HEART DILATATION; HEART EJECTION FRACTION; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HEART MUSCLE; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE VOLUME; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MUSCLE BIOPSY; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 8044224015     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.94.12.3168     Document Type: Article

References (39)

1. Ervasti JM, Campbell KP. Membrane organization of the dystrophinglycoprotein complex. Cell. 1991;66:1121-1131.
2. Beggs AH, Huffman EP, Snyder JR, Arahata K, Specht L, Shapiro F. Angelini C, Sugita H, Kunkel LM. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet. 1991;49:54-67.
3. Lenk U, Hanke R, Thiele H, Speer A. Point mutations at the carboxy terminus of the dystrophin gene: implications for an association with mental retardation in DMD patients. Hum Mol Genet. 1993;2: 1877-1881.
4. Saad FA, Vita G, Toffolatti L, Danieli GA. A possible missense mutation detected in the dystrophin gene by double strand conformation analysis. Neuromuscul Disord. 1994;4:335-341.
5. Gold R, Kress W, Meurers B, Meng G, Reichmann H, Muller CR. Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. Muscle Nerve. 1992; 15:214-218.
6. Hayashi Y, Ikeda U, Ogawa T, Miyashita H, Sekiguchi H, Arahata K, Shimada K. Becker-type muscular dystrophy associated with hypertrophic cardiomyopathy. Am Heart J. 1994;128:1265-1266.
7. Katiyar BC, Misra S, Somani PN, Chaiejri AM. Congestive cardiomyopathy in a family of Becker's X-linked muscular dystrophy. Postgrad Med J. 1977;53:12-15.
8. Kuhn E, Fiehn W, Schroder JM, Assmus H, Wagner A. Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy: a kindred. Neurology. 1979;29:1144-1149.
9. Melacini P, Fanin M, Danieli GA, Fasoli G, Villanova C, Angelini C, Vitiello L, Miorelli M, Buja GF, Mostacciuolo ML, Pegoraro E, Dalla Volta S. Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol. 1993;22:1927-1934.
10. Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A, Melis MA. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med. 1993;329:921-925.
11. Muntoni F, Wilson L, Marrosu G, Marrosu MG, Cianchetti C, Mestroni L, Ganau A, Dubowitz V, Sewry C. A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest. 1995;96:693-699.
12. Nigro G, Comi LI, Politano L, Limongelli FM, Nigro V, De Rimini ML, Giugliano MAM, Petretta VR, Passamano L, Restucci B, Fattore L, Tebloev K, De Luca F, Raia P, Esposito MG. Evaluation of the cardiomyopathy in Becker muscular dystrophy. Muscle Nerve. 1995; 18:283-291.
13. Palmucci L, Doriguzzi C, Mongini T, Chiado'-Piat L, Restagno G, Carbonara A, Paolillo V. Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. J Neurol Sci. 1992; 111:218-221.
14. Siciliano G, Fanin M, Angelini C, Pollina LE, Miorin M, Saad FA, Freda MP, Muratorio A. Prevalent cardiac involvement in dystrophin Becker type mutation. Neuromuscul Disord. 1994;4:381-386.
15. Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM. Chamberlain JS, McCabe ERB, Swift M. X-linked dilated cardiomyopathy: molecular evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation. 1993;87: 1854-1865.
16. Yazawa M, Ikeda S, Owa M, Haruta S, Yanagisawa N, Tanaka E, Watanabe M. A family of Becker's progressive muscular dystrophy with severe cardiomyopathy. Eur Neural. 1987;27:13-19.
17. Yoshida K, Ikeda S, Nakamura A, Kagoshima M, Takeda S, Shoji S, Yanagisawa N. Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve. 1993;16:1161-1166.
18. Angelini C, Fanin M, Pegoraro E, Freda MP, Cadaldini M, Martinello F. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of subclinical phenotypes. Neuromuscul Disord. 1994;4:349-358.
19. Daliento L, Turrini P, Nava A, Rizzoli G, Angelini A. Buja G, Scognamiglio R, Thiene G. Arrhythmogenic right ventricular cardio myopathy in young versus adult patients: similarities and differences. J Am Coll Cardiol. 1995;25:655-664.
20. Schiller NB. Two-dimensional echocardiographic determination of left ventricular volume, systolic function, and mass: summary and discussion of the 1989 recommendations of the American Society of Echocardiography. Circulation. 1991;84:280-287.
21. Levine RA, Gibson TC, Arete T, Gillam LD, Guyer DE, King ME, Weyman AE. Echocardiographic measurements of right ventricular volume. Circulation. 1984;69:497-505.
22. Scognamiglio R, Fasoli G, Nava A, Miraglia G, Thiene G, Dalla Volta S. Contribution of cross-sectional echocardiography to the diagnosis of right ventricular dysplasia at the asymptomatic stage. Eur Heart J. 1989;10:538-542.
23. Maron BJ, Pelliccia A, Spirito P. Cardiac disease in young trained athletes: insight into methods for distinguishing athlete's heart from structural heart disease, with particular emphasis on hypertrophie cardiomyopathy. Circulation. 1995;91:1596-1601.
24. Fanin M, Pegoraro E, Angelini C. Absence of dyslrophin and spectrin in regenerating muscle fibers from Becker muscular dystrophy patients. J Neural Sci. 1994;123:88-94.
25. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987; 51:919-928.
26. Saad FA, Galvagni F, Danieli GA. Rapid detection of human dystrophin gene mutations by multiplex semi-quantitative PCR (MSQ PCR). Basic Appl Myol. 1993;3:229-231.
27. Nigro G, Politano L, Nigro V, Petretta VR, Comi LI. Mutation of dystrophin gene and cardiomyopathy. Neuromuscul Disord. 1994;4: 371-379.
28. Steare SE, Dubowitz V, Benatar A. Subclinical cardiomyopathy in Becker muscular dystrophy. Br Heart J. 1992:68:304-308.
29. Milasin J, Muntoni F, Severini GM, Bartoloni L, Vatta M, Krajinovic M, Mateddu A, Angelini C, Camerini F, Falaschi A, Mestroni L, Giacca M. A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for the X-linked dilated cardiomyopathy. Hum Mol Genet. 1996;5:73-79.
30. Piccolo G, Azan G, Tonin P, Arbustini E, Gavazzi A, Banfi P, Mora M, Morandi L, Tedeschi S. Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. Neuromuscul Disord. 1994;4:143-146.
31. Boyce FM, Beggs AH, Feener C, Kunkel LM. Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A. 1991;88:1276-1280.
32. Olfors A, Eriksson BO, Kyllerman M, Martinsson T, Wahlstrom J. Dilated cardiomyopathy and the dystrophin gene: an illustrated review. Br Heart J. 1994;72:344-348.
33. Van Ommen GJB, Den Dunnen JT, Casula L, Blondel LAJ, Groot-scholten PM, Ginjaar HB, Van Paassen HMB, Bakker E, Moorman AFM. Duchenne and Becker muscular dystrophy mutations, studied at the gene and protein level. In: Angelini C, Danieli GA, Fontanari D, eds. Muscular Dystrophy Research: From Molecular Diagnosis Toward Therapy. Amsterdam, Netherlands: Excerpta Medica; 1991: 13-22.
34. Donofrio PD, Challa VR, Hackshaw BT, Mills SA, Cordell R. Cardiac transplant in a patient with muscular dystrophy and cardiomyopathy. Arch Neural. 1989;46:705-707.
35. Casazza F, Brambilla G, Salvato A, Morandi L, Grande E, Bonacina E. Dilated cardiomyopathy and successful cardiac transplantation in Becker's muscular dystrophy: follow-up after two years. G Ital Cardiol. 1988;18:753-757.
36. Maeda M, Nakao S, Miyazato H, Setoguchi M, Arima S, Higuchi I, Osame M, Taira A, Nomoto K, Toda H, Tahata M, Atsuchi Y, Tanaka H. Cardiac dystrophin abnormalities in Becker muscular dystrophy assessed by endomyocardial biopsy. Am Heart J. 1995;129:702-707.
37. Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci U S A. 1993;90:3710-3714.
38. Sandri M. Podhorska-Okolow M, Geromel V, Rizzi C, Arslan P, Franceschi C, Carraro U. Sudden spontaneous exercise increases myonuclear ubiquitination and apoptosis of dystrophin deficient muscle. Basic Appl Myol. 1996;6:285-289.
39. Krajinovic M, Pinamonti B, Sinagra G, Vatta M, Severini GM, Milasin J, Falaschi A, Camerini F, Giacca M, Mestroni L, Dilenarda A, Lardieri G, Morgera T, Silvestri F, Bussani R, Davanzo M, Meringolo G. Linkage of familial dilated cardiomyopathy to chromosome 9. Am J Hum Genet. 1995;57:846-852.