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Cardiac dysfunction is a primary feature in patients and female carriers of Becker muscular dystrophy (BMD). Conventional echocardiography and pulsed Doppler tissue imaging (DTI) were performed in 28 patients with BMD, in 20 female carriers, and in 38 control participants (20 men and 18 women). Left ventricular ejection fraction (LVEF) was lower in BMD patients (P.02) and carriers (P.02) than in normal participants. Two subgroups of BMD patients were identified: A1 = LVEFor = 55% (n = 20) and A2 = LVEF55% (n = 8). The carriers displayed LVEFor = 55%. Compared with control participants the diastolic alterations by conventional echocardiography were lower early filling peak in the subgroup A1 (P.05) and prolonged isovolumic relaxation time in A1, A2, and in carriers (at least P.02). Furthermore, pulsed DTI showed lower early diastolic wave peak at basal septum in A2 (P.05) and in carriers (P.0001); at lateral mitral annulus and at basal inferior wall in A1, A2, and in carriers (at least P.05); lower early/late diastolic wave ratio at basal septum and lateral mitral annulus (P.05) in carriers; and prolonged isovolumic relaxation time in A1, A2, and in carriers (at least P.02), except at lateral mitral annulus of carriers. Systolic parameters investigated by pulsed DTI detected lower peak systolic wave at basal septum in A1, A2, and carriers (P.02); at lateral mitral annulus in carriers (P.02); at basal inferior wall in A1, A2 (P.02), and in carriers (P.0001); and lower time-velocity integral of S wave at each segment in A1, A2, and in carriers. In dystrophinopathic cardiomyopathy, pulsed DTI may be a useful technique to assess diastolic dysfunction and appears to be a promising tool in identifying early regional systolic alterations in patients and carriers with normal LVEF.

Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called alpha-, beta-, gamma-, delta-and epsilon-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete deficiency in delta-sarcoglycan is the cause of the Syrian hamster BIO.14 cardiomyopathy, we studied cardiac and respiratory involvement in 20 patients with sarcoglycanopathies by clinical, electrocardiographic, echocardiographic, scintigraphic and spirometric assessments. A normal heart function was found in 31.3% of all patients; a preclinical cardiomyopathy in 43.7%; an arrhythmogenic cardiomyopathy in 6.3% and initial signs of dilated cardiomyopathy in 18.7%. In one patient the data were examined retrospectively. No correlation was found between cardiac and skeletal muscle involvement. With reference to the type of sarcoglycanopathy, signs of hypoxic myocardial damage occurred in beta-, gamma- and delta-sarcoglycanopathies, while initial signs of a dilated cardiomyopathy in gamma- and delta-sarcoglycanopathies were found. A normal respiratory function was observed in 23.5% of all patients, a mild impairment in 35.4%, a moderate impairment in 29.4%, and a severe impairment in 11.7%.

We evaluated the arrhythmic profile in a population of 20 Becker muscular dystrophy (BMD) patients searching for possible correlations between the severity of the arrhythmic events, the cardiac autonomic balance (assessed by heart rate variability analysis in the time domain) and the degree of left ventricular systolic impairment. A population of 14 male healthy individuals served as the control group. BMD subjects exhibited lower values of SDNN (P=0.013), SDANN index (P=0.008) and 24-h mean heart rate (P=0.002). The total number of premature ventricular beats (totPVB) and the number of PVB out of 1000 heartbeats (PVB/1000) appeared also higher in BMD subjects (P=0.05 and P=0.046, respectively). No difference was found in terms of 24-h mean QTc and 24-h longest QT among the two groups. TotPVB and PVB/1000 were inversely related to both the ejection fraction (r= -0.620, P=0.004 and r= -0.517, P=0.019) and to the shortening fraction (r= -0.568, P=0.009 and r= -0.469, P=0.037). Twenty-four-h mean QTc was also inversely related to both the ejection fraction (r= -0.520, P=0.019) and the fractional shortening (r= -0.491, P=0.028). These data suggest that in BMD there is cardiac autonomic imbalance characterized by sympathetic predominance and an increased susceptibility to ventricular arrhythmias, even in the absence of overt cardiomyopathy. Furthermore, the severity of the arrhythmic profile in BMD appears closely related to the degree of left ventricular systolic dysfunction.

To evaluate the features and the course of cardiomyopathy in Becker muscular dystrophy, 68 patients-identified by clinical assessment and by reduced dystrophin labeling and/or DNA analysis-were followed in the years 1976-1993, for periods ranging from 3 to 18 years (mean 8). Patients periodically underwent clinical, electrocardiographic, echocardiographic, nuclear, and radiological assessments. Preclinical cardiac involvement was found in 67.4% of patients under 16 years of age, decreasing to 30% in patients older than 40. Clinically evident cardiomyopathy was found in 15% of patients under 16 years of age, increasing to 73% in patients older than 40. A real, dilated cardiomyopathy is the most frequent type of myocardial involvement after the age of 20. Results show that the severity of cardiac involvement can be unrelated to the severity of skeletal muscle damage and confirm that cardiac dysfunction is a primary feature of Becker muscular dystrophy. (C) 1995 John Wiley & Sons, Inc.

Clinical, electrocardiographic, echocardiographic and other instrumental examinations were performed on 233 persons primarily seeking genetic advice about the Duchenne/Becker gene in order to reveal the incidence of dystrophic cardiomyopathy in a population of females with a close relationship with patients suffering from Duchenne or Becker muscular dystrophy. Among these consultands, 210 were Duchenne and 23 Becker. Eight five (40.4%) Duchenne and 8 (34.8%) Becker consultands showed a normal cardiac status; 35 (16.6%) Duchenne and 6 (26.1%) Becker had clinically evident cardiomyopathy; 90 (43%) Duchenne and 9 (39.1%) Becker showed minor signs of myocardial involvement. The link between myocardial involvement and the Duchenne/Becker carrier condition was demonstrated through the observation that the percentage of cases showing pre-clinical or clinically evident cardiomyopathy was higher in the consultands with pathological values of serum creatine kinase activity (obligatory carriers) and/or an estimated genetic risk higher than 70% than in the consultands showing a normal value of serum creatine kinase activity (less than 80 U/l) and/or a genetic risk lower than 70%.

Aim Since growth hormone (GH) has proven beneficial in experimental heart failure, and the natural history of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) is frequently complicated by the development of dilated cardiomyopathy, we administered GH to six patients with DMD and 10 with BMD, with the evidence of cardiac involvement. Methods and results Patients were randomized to receive for 3 months either placebo or recombinant human GH, in a double-blind fashion. In GH-treated patients, left ventricular (LV) mass increased by 16% in BMD and by 29% in DMD (both \batchmode \documentclass[fleqn,10pt,legalpaper]{article} \usepackage{amssymb} \usepackage{amsfonts} \usepackage{amsmath} \pagestyle{empty} \begin{document} \(p{

Sudden cardiac death is a dramatic, undesirable event that can often result from cardiomyopathies. To investigate the validity of the QTdispersion (QTd) in revealing regional heterogeneity of repolarisation, with consequent possibility of sudden death,1 we evaluated ECGs of patients affected by Becker muscular dystrophy (BMD). This is an X linked recessive muscular dystrophy caused by dystrophin anomalies in striated muscles with myocardial involvement2–4 and consequent dilated cardiomyopathy, ventricular arrhythmias and, in 30% of cases, sudden cardiac death.5,6 The study was retrospective using the clinically validated database of ECGs and echocardiograms (echo recorded together with the ECG) from 30 BMD patients (mean (SD) age 25 (10) years) with variable stages of myocardial involvement, and 26 healthy, age matched controls. All subjects underwent a physical examination, blood analyses, and M mode and two dimensional echocardiography. The diagnosis of the type of muscular dystrophy in Becker patients was confirmed by DNA analysis (polymerase chain reaction) and by reduced dystrophin labelling from the immunohistochemical examination of biopsy samples. We excluded the ECGs from subjects with ST-T anomalies on the 12 lead ECG, and with sustained ventricular arrhythmias at 24 hour Holter monitoring, electrolyte …

Objective. —To characterize the presence and behavior of the dystrophinopathic myocardial damage in female carriers of a gene defect at the Xp21 locus of the X chromosome that causes Duchenne and Becker muscular dystrophies (DMD and BMD). Design. —Cohort study from April 1, 1985, to April 30, 1995, with cardiologic follow-up performed yearly for a minimum of 3 to a maximum of 10 years. Setting. —Counseling center for genetic muscular disorders. Patients. —A total of 197 women and girls aged 5 to 60 years ascertained to be carriers of the DMD (n=152) or BMD (n=45) gene. Main Outcome Measures. —Cardiac status at yearly examinations as determined by 12-lead electrocardiogram (ECG), 24-hour ambulatory ECG, M-mode and 2-dimensional echocardiography, and carotid pulse tracing. Myocardial scintigram was performed on each individual at least twice during the study. Immunohistochemical analysis of dystrophin from myocardium and/or skeletal muscle biopsy was performed in 12 carriers. Results. —Preclinical or clinically evident myocardial involvement was found in 166 cases (84.3%), without significant differences in percentage and behavior between DMD and BMD carriers. Its occurrence increased significantly with age, from 54.5% (18 cases) in carriers aged between 5 and 16 years to 90.2% (148 cases) in carriers older than 16 years. Dystrophin anomalies were detected at the membrane level of the myocardial fibers in all endomyocardial biopsy specimens. Conclusions. —Genetic anomalies can be considered the primary cause of myocardial damage in carriers of dystrophinopathic myopathies; myocardial damage shows the same behavior already described in DMD and BMD patients and progresses from preclinical to dilated cardiomyopathy, passing through stages of myocardial hypertrophy or dysrhythmias. ( JAMA . 1996;275:1335-1338)