Cardiac involvement in becker muscular dystrophy

Paola Melacini, Marina Fanin, Gian Antonio Danieli, Giuseppe Fasoli, Carla Villanova, Corrado Angelini, Libero Vitiello, Manuela Miorelli, Gian Franco Buja, Maria Luisa Mostacciuolo, Elena Pegoraro, Sergio Dalla Volta

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1927-1934
Number of pages8
JournalJournal of the American College of Cardiology
Volume22
Issue number7
DOIs
Publication statusPublished - 1993

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Duchenne Muscular Dystrophy
Dystrophin
Heart Diseases
Exons
Stroke Volume
Skeletal Muscle
Right Ventricular Dysfunction
Ambulatory Electrocardiography
DNA
Neurologic Examination
Heart Ventricles
Cardiac Arrhythmias
Myocardium
Western Blotting
Biopsy
Muscles
Control Groups
Mutation
Incidence

ASJC Scopus subject areas

  • Nursing(all)

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Melacini, P., Fanin, M., Danieli, G. A., Fasoli, G., Villanova, C., Angelini, C., ... Volta, S. D. (1993). Cardiac involvement in becker muscular dystrophy. Journal of the American College of Cardiology, 22(7), 1927-1934. https://doi.org/10.1016/0735-1097(93)90781-U

Cardiac involvement in becker muscular dystrophy. / Melacini, Paola; Fanin, Marina; Danieli, Gian Antonio; Fasoli, Giuseppe; Villanova, Carla; Angelini, Corrado; Vitiello, Libero; Miorelli, Manuela; Buja, Gian Franco; Mostacciuolo, Maria Luisa; Pegoraro, Elena; Volta, Sergio Dalla.

In: Journal of the American College of Cardiology, Vol. 22, No. 7, 1993, p. 1927-1934.

Research output: Contribution to journalArticle

Melacini, P, Fanin, M, Danieli, GA, Fasoli, G, Villanova, C, Angelini, C, Vitiello, L, Miorelli, M, Buja, GF, Mostacciuolo, ML, Pegoraro, E & Volta, SD 1993, 'Cardiac involvement in becker muscular dystrophy', Journal of the American College of Cardiology, vol. 22, no. 7, pp. 1927-1934. https://doi.org/10.1016/0735-1097(93)90781-U
Melacini P, Fanin M, Danieli GA, Fasoli G, Villanova C, Angelini C et al. Cardiac involvement in becker muscular dystrophy. Journal of the American College of Cardiology. 1993;22(7):1927-1934. https://doi.org/10.1016/0735-1097(93)90781-U
Melacini, Paola ; Fanin, Marina ; Danieli, Gian Antonio ; Fasoli, Giuseppe ; Villanova, Carla ; Angelini, Corrado ; Vitiello, Libero ; Miorelli, Manuela ; Buja, Gian Franco ; Mostacciuolo, Maria Luisa ; Pegoraro, Elena ; Volta, Sergio Dalla. / Cardiac involvement in becker muscular dystrophy. In: Journal of the American College of Cardiology. 1993 ; Vol. 22, No. 7. pp. 1927-1934.
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abstract = "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.",
author = "Paola Melacini and Marina Fanin and Danieli, {Gian Antonio} and Giuseppe Fasoli and Carla Villanova and Corrado Angelini and Libero Vitiello and Manuela Miorelli and Buja, {Gian Franco} and Mostacciuolo, {Maria Luisa} and Elena Pegoraro and Volta, {Sergio Dalla}",
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AU - Melacini, Paola

AU - Fanin, Marina

AU - Danieli, Gian Antonio

AU - Fasoli, Giuseppe

AU - Villanova, Carla

AU - Angelini, Corrado

AU - Vitiello, Libero

AU - Miorelli, Manuela

AU - Buja, Gian Franco

AU - Mostacciuolo, Maria Luisa

AU - Pegoraro, Elena

AU - Volta, Sergio Dalla

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N2 - 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.

AB - 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.

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