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

被引:139
作者
Melacini, P
Fanin, M
Danieli, GA
Villanova, C
Martinello, F
Miorin, M
Freda, MP
Miorelli, M
Mostacciuolo, ML
Fasoli, G
Angelini, C
DallaVolta, S
机构
[1] UNIV PADUA, DEPT NEUROL, PADUA, ITALY
[2] UNIV PADUA, DEPT BIOL, PADUA, ITALY
关键词
cardiomyopathy; echocardiography; molecular biology; muscles;
D O I
10.1161/01.CIR.94.12.3168
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background Several cases of Becker's muscular dystrophy (BMD) have been reported, which showed mild or subclinical skeletal muscle involvement with an overt dilated cardiomyopathy. Here, for the first time, a group of 28 patients with BMD who had a subclinical or benign myopathy have been studied through a thorough cardiological assessment. Methods and Results Each patient underwent ECG and echocardiographic examinations. Molecular analyses of the dystrophin gene and protein were performed. An unexpectedly high incidence of myocardial involvement was observed among patients affected with subclinical (72%) or benign (60%) BMD. The cardiac involvement appears to develop early from the right ventricle. Both the increase in left ventricular end-diastolic volume and the reduction in the ejection fraction appeared to be age related. Severe left ventricular dilation with reduced ejection fraction, which could be complicated by life-threatening arrhythmias, may occur. Contrary to previous reports, which indicated the involvement of 5'-end mutations in cardiomyopathies as a result of dystrophin gene alterations, this study shows that despite the apparent concentration of deletions in two regions (5'-end and exons 47 through 49) no general conclusions can be drawn regarding the involvement of specific gene mutations in the development of cardiomyopathy. Conclusions Cardiomyopathy is the main clinical feature and complication in patients affected by subclinical or mild BMD. The cardiac manifestation is characterized by early right ventricular involvement and is later associated with left ventricular impairment. In mild BMD, myocardial damage may develop because the patients, who are unaware of a possible cardiac involvement, are still able to perform strenuous muscle exercise and, through pressure or volume overload, may induce mechanical stress, which is harmful for dystrophin-deficient myocardial cells.
引用
收藏
页码:3168 / 3175
页数:8
相关论文
共 39 条
  • [1] CLINICAL-MOLECULAR CORRELATION IN 104 MILD X-LINKED MUSCULAR-DYSTROPHY PATIENTS - CHARACTERIZATION OF SUBCLINICAL PHENOTYPES
    ANGELINI, C
    FANIN, M
    PEGORARO, E
    FREDA, MP
    CADALDINI, M
    MARTINELLO, F
    [J]. NEUROMUSCULAR DISORDERS, 1994, 4 (04) : 349 - 358
  • [2] BEGGS AH, 1991, AM J HUM GENET, V49, P54
  • [3] DYSTROPHIN IS TRANSCRIBED IN BRAIN FROM A DISTANT UPSTREAM PROMOTER
    BOYCE, FM
    BEGGS, AH
    FEENER, C
    KUNKEL, LM
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (04) : 1276 - 1280
  • [4] CASAZZA F, 1988, Giornale Italiano di Cardiologia, V18, P753
  • [5] ARRHYTHMOGENIC RIGHT-VENTRICULAR CARDIOMYOPATHY IN YOUNG VERSUS ADULT PATIENTS - SIMILARITIES AND DIFFERENCES
    DALIENTO, L
    TURRINI, P
    NAVA, A
    RIZZOLI, G
    ANGELINI, A
    BUJA, G
    SCOGNAMIGLIO, R
    THIENE, G
    [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1995, 25 (03) : 655 - 664
  • [6] CARDIAC TRANSPLANTATION IN A PATIENT WITH MUSCULAR-DYSTROPHY AND CARDIOMYOPATHY
    DONOFRIO, PD
    CHALLA, VR
    HACKSHAW, BT
    MILLS, SA
    CORDELL, AR
    [J]. ARCHIVES OF NEUROLOGY, 1989, 46 (06) : 705 - 707
  • [7] MEMBRANE ORGANIZATION OF THE DYSTROPHIN-GLYCOPROTEIN COMPLEX
    ERVASTI, JM
    CAMPBELL, KP
    [J]. CELL, 1991, 66 (06) : 1121 - 1131
  • [8] ABSENCE OF DYSTROPHIN AND SPECTRIN IN REGENERATING MUSCLE-FIBERS FROM BECKER DYSTROPHY PATIENTS
    FANIN, M
    PEGORARO, E
    ANGELINI, C
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1994, 123 (1-2) : 88 - 94
  • [9] BECKER MUSCULAR-DYSTROPHY - DETECTION OF UNUSUAL DISEASE COURSES BY COMBINED APPROACH TO DYSTROPHIN ANALYSIS
    GOLD, R
    KRESS, W
    MEURERS, B
    MENG, G
    REICHMANN, H
    MULLER, CR
    [J]. MUSCLE & NERVE, 1992, 15 (02) : 214 - 218
  • [10] HAYASHI Y, 1994, AM HEART J, V128, P1265