Cardiac involvement in Becker muscular dystrophy

Department of Cardiology, University of Padua, Italy.

OBJECTIVES. The purpose of this study was to assess the incidence of myocardial involvement and the relation of cardiac disease to the molecular defect at the deoxyribonucleic acid (DNA) or protein level in Becker muscular dystrophy. BACKGROUND. Dystrophin gene mutations produce clinical manifestations of disease in the heart and skeletal muscle of patients with Becker muscular dystrophy. METHODS. Thirty-one patients underwent electrocardiographic and echocardiographic examination and 24-h Holter monitoring. The diagnosis was established by neurologic examination, dystrophin immunohistochemical assays or Western blot on muscle biopsy, or both, and DNA analysis. RESULTS. Electrocardiographic and echocardiographic findings were abnormal in 68% and 62% of the patients, respectively. Right ventricular involvement was detected in 52%. Left ventricular impairment was observed either as an isolated phenomenon (10%) or in association with right ventricular dysfunction (29%). Right ventricular disease was manifested in the teenagers, and an impairment of the left ventricle was observed in older patients. Right ventricular end-diastolic volumes were significantly increased compared with those in a control group. The left ventricular ejection fraction was significantly lower in older patients than in control subjects or younger patients. Life-threatening ventricular arrhythmias were detected in four patients. No correlations were found between skeletal muscle disease, cardiac involvement and dystrophin abnormalities. In our patients, exon 49 deletion was invariably associated with cardiac involvement. Exon 48 deletion was associated with cardiac disease in all but two patients. CONCLUSIONS. The cardiac manifestation of Becker muscular dystrophy is characterized by early right ventricular involvement associated or not with left ventricular impairment. Exon 49 deletion is associated with cardiac disease.

This article has been cited by other articles:

				K. Anthony, S. Cirak, S. Torelli, G. Tasca, L. Feng, V. Arechavala-Gomeza, A. Armaroli, M. Guglieri, C. S. Straathof, J. J. Verschuuren, et al. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials Brain, December 1, 2011; 134(12): 3547 - 3559. [Abstract] [Full Text] [PDF]

				S. M. S. van Westrum, E. M. Hoogerwaard, L. Dekker, T. S. Standaar, E. Bakker, P. F. Ippel, J. C. Oosterwijk, D. F. Majoor-Krakauer, A. J. van Essen, N. J. Leschot, et al. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy Neurology, July 5, 2011; 77(1): 62 - 66. [Abstract] [Full Text] [PDF]

				N. Jearawiriyapaisarn, H. M. Moulton, P. Sazani, R. Kole, and M. S. Willis Long-term improvement in mdx cardiomyopathy after therapy with peptide-conjugated morpholino oligomers Cardiovasc Res, February 1, 2010; 85(3): 444 - 453. [Abstract] [Full Text] [PDF]

				R. W. Kaspar, H. D. Allen, W. C. Ray, C. E. Alvarez, J. T. Kissel, A. Pestronk, R. B. Weiss, K. M. Flanigan, J. R. Mendell, and F. Montanaro Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy Circ Cardiovasc Genet, December 1, 2009; 2(6): 544 - 551. [Abstract] [Full Text] [PDF]

				M.-L. Sveen, J. J. Thune, L. Kober, and J. Vissing Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy Arch Neurol, September 1, 2008; 65(9): 1196 - 1201. [Abstract] [Full Text] [PDF]

				T. Nakanishi, M. Sakauchi, Y. Kaneda, H. Tomimatsu, K. Saito, M. Nakazawa, and M. Osawa Cardiac Involvement in Fukuyama-type Congenital Muscular Dystrophy Pediatrics, June 1, 2006; 117(6): e1187 - e1192. [Abstract] [Full Text] [PDF]

				J.-C. Charniot, M. Desnos, K. Zerhouni, D. Bonnefont-Rousselot, J.-P. Albertini, J. Z. Salama, G. Bassez, M. Komajda, and J.-Y. Artigou Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: A phenotypic study Eur J Heart Fail, May 1, 2006; 8(3): 249 - 256. [Abstract] [Full Text] [PDF]

				V. Giglio, V. Pasceri, L. Messano, Q. Parisi, G. Rinelli, L. Pasquini, A. Dello Russo, A. Broccolini, G. Galluzzi, M. Pescatori, et al. Integrated Backscatter in Becker Muscular Dystrophy Patients With Functionally Normal Heart: Myocardial Ultrasound Tissue Characterization Study J. Am. Coll. Cardiol., February 7, 2006; 47(3): 686 - 688. [Full Text] [PDF]

				N Cohen and F Muntoni Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy Heart, August 1, 2004; 90(8): 835 - 841. [Abstract] [Full Text] [PDF]

				C Meune, O Pascal, H M Becane, F Heloire, D Christoforou, P Laforet, B Eymard, P Gueret, F Leturcq, D Recan, et al. Reliable detection of early myocardial dysfunction by tissue Doppler echocardiography in Becker muscular dystrophy Heart, August 1, 2004; 90(8): 947 - 948. [Full Text] [PDF]

				A. Aartsma-Rus, A. A.M. Janson, W. E. Kaman, M. Bremmer-Bout, J. T. den Dunnen, F. Baas, G.-J. B. van Ommen, and J. C.T. van Deutekom Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients Hum. Mol. Genet., April 15, 2003; 12(8): 907 - 914. [Abstract] [Full Text] [PDF]

				F. Muntoni Cardiac Complications of Childhood Myopathies J Child Neurol, March 1, 2003; 18(3): 191 - 202. [Abstract] [PDF]

				M. Saotome, Y. Yoshitomi, S. Kojima, and M. Kuramochi Dilated Cardiomyopathy of Becker-Type Muscular Dystrophy with Exon 4 Deletion: A Case Report Angiology, May 1, 2001; 52(5): 343 - 347. [Abstract] [PDF]

				M. H. Crawford, S. J. Bernstein, P. C. Deedwania, J. P. DiMarco, K. J. Ferrick, A. Garson Jr, L. A. Green, H. L. Greene, M. J. Silka, P. H. Stone, et al. ACC/AHA guidelines for ambulatory electrocardiography: A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Committee to Revise the Guidelines for Ambulatory Electrocardiography) developed in collaboration with the North American Society for Pacing and Electrophysiology J. Am. Coll. Cardiol., September 1, 1999; 34(3): 912 - 948. [Full Text] [PDF]

				L. Mestroni, C. Rocco, D. Gregori, G. Sinagra, A. Di Lenarda, S. Miocic, M. Vatta, B. Pinamonti, F. Muntoni, A. L. P. Caforio, et al. Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity J. Am. Coll. Cardiol., July 1, 1999; 34(1): 181 - 190. [Abstract] [Full Text] [PDF]

				F. Muntoni, A. Di Lenarda, M. Porcu, G. Sinagra, A. Mateddu, G. Marrosu, A. Ferlini, M. Cau, J. Milasin, M. A. Melis, et al. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy Heart, December 1, 1997; 78(6): 608 - 612. [Abstract] [Full Text] [PDF]

				M. D. Cheitlin, J. S. Alpert, W. F. Armstrong, G. P. Aurigemma, G. A. Beller, F. Z. Bierman, T. W. Davidson, J. L. Davis, P. S. Douglas, L. D. Gillam, et al. ACC/AHA Guidelines for the Clinical Application of Echocardiography : A Report of the American College of Cardiology/ American Heart Association Task Force on Practice Guidelines (Committee on Clinical Application of Echocardiography) Developed in Collaboration With the American Society of Echocardiography Circulation, March 18, 1997; 95(6): 1686 - 1744. [Full Text]

				P. Melacini, M. Fanin, G.A. Danieli, C. Villanova, F. Martinello, M. Miorin, M.P. Freda, M. Miorelli, M.L. Mostacciuolo, G. Fasoli, et al. Myocardial Involvement Is Very Frequent Among Patients Affected With Subclinical Becker's Muscular Dystrophy Circulation, December 15, 1996; 94(12): 3168 - 3175. [Abstract] [Full Text]