Connuck, D. M., Sleeper, L. A., Colan, S. D., Cox, G. F., Towbin, J. A. & Lowe, A. M. et al. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am. Heart J. 155, 998-1005

Janet Weis Children's Hospital, Geisinger Medical Center, Danville, PA, USA.
American heart journal (Impact Factor: 4.46). 07/2008; 155(6):998-1005. DOI: 10.1016/j.ahj.2008.01.018
Source: PubMed


The aim of this study was to determine in pediatric Duchenne (DMD) and Becker muscular dystrophy (BMD) or other dilated cardiomyopathies (ODCM) whether outcomes differ by diagnosis.
Children with dilated cardiomyopathy are treated as a single undifferentiated group.
This cohort study of 128 children with DMD, 15 with BMD, and 312 with ODCM uses outcome measures of left ventricular (LV) size and function, death, heart transplant, and death or transplant.
At cardiomyopathy diagnosis, the DMD and BMD groups had similar mean ages (14.4 and 14.6 years), prevalence of congestive heart failure (CHF) (30% and 33%), and LV fractional shortening (FS) Z-scores (median, -5.2 for DMD and -6.7 for BMD). The BMD group had more severe mitral regurgitation (P = .05) and a higher mean LV end-diastolic dimension Z-score than the DMD group (2.9 +/- 1.5 vs 1.2 +/- 1.9, P = .002). Duchenne muscular dystrophy group survival was lower than in BMD or ODCM groups (P = .06) at 5 years (57%, 100%, and 71%, respectively). In BMD, 25% received cardiac transplants within 0.4 years of cardiomyopathy diagnosis. The combined DMD and BMD group had less LV dilation and a closer-to-normal LV FS at cardiomyopathy diagnosis than the ODCM group. After 2 years, LV dilation increased, and LV FS did not change in the combined DMD and BMD group; for ODCM patients, LV dilation did not progress, and LV FS improved.
Children with DMD and cardiomyopathy have a higher mortality. Becker muscular dystrophy has a high heart transplantation rate in the 5 years after diagnosis of cardiomyopathy. Serial echocardiography demonstrates a different disease course for DMD and BMD patients compared with ODCM patients.

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    • "According to many researchers, cardiac involvement occurs in 20% of patients with MD and up to 90% of patients with DMD during childhood. Once a cardiomyopathy develops, it results in significant mortality in both groups of patients7,8). For these reasons, cardiologists have focused on the pathologic transformation of myocardium in affected patients. "
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    ABSTRACT: Purpose Mitochondrial disease (MD) and Duchenne muscular dystrophy (DMD) are often associated with cardiomyopathy, but the myocardial variability has not been isolated to a specific characteristic. We evaluated the left ventricular (LV) mass by echocardiography to identify the general distribution and functional changes of the myocardium in patients with MD or DMD. Methods We retrospectively evaluated the echocardiographic data of 90 children with MD and 42 with DMD. Using two-dimensional echocardiography, including time-motion (M) mode and Doppler measurements, we estimated the LV mass, ratio of early to late mitral filling velocities (E/A), ratio of early mitral filling velocity to early diastolic mitral annular velocity (E/Ea), stroke volume, and cardiac output. A "z score" was generated using the lambda-mu-sigma method to standardize the LV mass with respect to body size. Results The LV mass-for-height z scores were significantly below normal in children with MD (-1.02±1.52, P<0.001) or DMD (-0.82±1.61, P=0.002), as were the LV mass-for-lean body-mass z scores. The body mass index (BMI)-for-age z scores were far below normal and were directly proportional to the LV mass-for-height z scores in both patients with MD (R=0.377, P<0.001) and those with DMD (R=0.330, P=0.033). The LV mass-for-height z score correlated positively with the stroke volume index (R=0.462, P<0.001) and cardiac index (R=0.358, P<0.001). Conclusion LV myocardial atrophy is present in patients with MD and those with DMD and may be closely associated with low BMI. The insufficient LV mass for body size might indicate deterioration of systolic function in these patients.
    Full-text · Article · May 2014 · Korean Journal of Pediatrics
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    • "Most develop refractory dilated cardiomyopathy, which is responsible for nearly 50% of patient deaths. Treatment with ACE-inhibitors or β-blockers has been shown to improve cardiac function among patients with Stage C disease and delay onset of refractory (stage D) disease [44]. However, few patients have lasting improvement in outcomes and most develop progressive disease despite pharmacologic intervention. "
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    ABSTRACT: Cardiovascular complications are a leading cause of therapy-related morbidity and mortality in long-term survivors of childhood malignancy. In fact, childhood cancer survivors are at a 15-fold risk of developing CHF compared to age-matched controls. There is a strong dose-dependent association between anthracycline exposure and risk of CHF, and the incidence increases with longer followup. Outcome following diagnosis of CHF is generally poor, with overall survival less than 50% at 5 years. The growing number of childhood cancer survivors makes it imperative that strategies be developed to prevent symptomatic heart disease in this vulnerable population. We present here an overview of the current state of knowledge regarding primary, secondary, and tertiary prevention strategies for childhood cancer survivors at high risk for CHF, drawing on lessons learned from prevention studies in nononcology populations as well as from the more limited experience in cancer survivors.
    Full-text · Article · Aug 2012 · Cardiology Research and Practice
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    • "In conclusion, the mdx/utrn À/À dystrophin/utrophin-deficient mice have previously been established as an excellent phenotypic model for Duchenne muscular dystrophy because of the many similarities to patients in the development of skeletal muscle pathology [20]. Our study demonstrates that the mdx/utrn À/À dystrophin/utrophin-deficient mouse may also serve as a tool for simulating cardiac muscle dysfunction and pathology in Duchenne patients, developing dilated cardiomyopathy similar to patients with DMD in both functional and histological aspects (Fig. 6; [52] [53] [54] [55] [56] [57]). "
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    ABSTRACT: Cardiac involvement in Duchenne muscular dystrophy is asymptomatic until function is severely affected. Little is known about its evolution, and few animal models are available to study potential treatments. We therefore examined cardiac function and pathology in mdx/utrn(-/-) dystrophin/utrophin-deficient mice. Decreased left ventricular fractional shortening and ejection fraction, as well as increased end-diastolic volume, left ventricle dilation, and thinning of the ventricular wall and septum develop by 15weeks. Fibrosis is also detected in the outer region of both ventricle walls and the septum and ultrastructure analysis revealed abnormalities in mitochondrial organization, size, and shape. The functional changes observed are comparable to the evolution of dilated cardiomyopathy in Duchenne muscular dystrophy, indicating that mdx/utrn(-/-) dystrophin/utrophin-deficient mice are a possible phenotypic model for cardiomyopathy in Duchenne muscular dystrophy.
    Full-text · Article · Jan 2012 · Neuromuscular Disorders
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