Cardiomyopathy in Duchenne Muscular Dystrophy: Current Value of Clinical, Electrophysiological and Imaging Findings in Children and Teenagers

Dittrich, Sven; Tuerk, Melanie J; Haaker, Gerrit; Greim, V.; Buchholz, Anika; Burkhardt, Barbara; Fujak, Albert; Trollmann, Regina; Schmid, Axel; Schroeder, Rico

doi:10.1055/s-0034-1398689

Cited by 30 publications

(25 citation statements)

References 24 publications

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“…134 Periodic ambulatory electrocardiographic monitoring has also been advocated for screening, follow-up, and symptom-directed assessment of arrhythmia in patients with DMD and BMD. 164,[169][170][171][172][173] Ambulatory electrocardiographic monitoring can be useful to detect the diminished heart rate variability indicative of sympathetic predominance and increased susceptibility to ventricular arrhythmias. 174,175 However, 2 recent retrospective studies of ambulatory electrocardiographic monitoring by guest on May 9, 2018 http://circ.ahajournals.org/ Downloaded from e210 results in 235 DMD patients 14±4 years of age and 91 patients 17±4 years of age found only LVEF <30% to 35% and increased age (eg, ≥17 years) were associated with abnormal ambulatory electrocardiographic findings, such as nonsustained atrial and ventricular tachycardias.…”

Section: Cardiac Evaluation In Dmd and Bmdmentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

211

195

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For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes. N euromuscular diseases (NMDs) encompass a broad spectrum of diagnoses with overlapping but distinct phenotypes. Common to many NMDs is cardiac involvement. Although the past 3 decades have seen marked advances in our understanding of many NMDs, significant gaps in knowledge remain on how best to approach cardiac care in these patients. For example, survival in Duchenne muscular dystrophy (DMD) has been extended through the use of glucocorticoid use and respiratory support, yet cardiac complications remain a significant cause of morbidity and mortality.1-3 To achieve further gains in care, we will need to improve our understanding of the pathophysiologies driving cardiac involvement in NMDs and advance treatments aimed at preventing the progression of heart failure (HF) and sudden death in NMDs. The recently published findings of an expert working group on cardiac involvement in DMD, which outlined key gaps in knowledge and made specific recommendations aimed at improving diagnosis and management, are a step toward this goal. 4 In this statement, we include a comprehensive overview of the major categories of NMDs with cardiac involvement. For each, a brief background of the gene defect(s), common clinical manifestations (particularly cardiac findings), and current therapies is summarized. Gaps in knowledge are highlighted, and where possible, clinical treatment suggestions are made by the expert writing group appointed by the American Heart Association to review the available literature. Selection of the writing group was performed in accordance with the American Heart Association's conflict-of-interest management policy. Participants volunteered to write sections relevant to their expertise and experience. CLINICAL STATEMENTS AND GUIDELINESconducted a general search of the literature, restricted to human subjects research published between 1980 and 2016. Drafts of each section were written and sent to the chair of the writing group for incorporation into a single document, which was then edited. The edited document was discussed electron...

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Section: Cardiac Evaluation In Dmd and Bmdmentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

211

195

View full text Add to dashboard Cite

show abstract

“…In contrast, atrial fibrillation is a rather rare condition in DMD cardiomyopathy. 13 Although almost all DMD patients, who benefit from major improvements in symptomatic multidisciplinary care, will have cardiomyopathy in adulthood, 14 there are currently no standard guideline recommendations for preventive anticoagulation or antiplatelet therapy in juvenile and adult DMD patients. Thus, regular cardiological assessment of all DMD patients is mandatory to evaluate the individual risk profile for cardioembolic events and to adapt therapeutic strategies.…”

mentioning

confidence: 99%

Stroke in Duchenne Muscular Dystrophy

Winterholler

Holländer

Kerling

et al. 2016

Stroke

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To analyze the frequency, cause, and outcome of ischemic and hemorrhagic stroke in DMD, we retrospectively reviewed the clinical data of 59 male patients, who lived at the Wichernhaus in Altdorf, a specialized learning and living facility for handicapped children and young adults near Nuremberg in Germany, between 1963 and 2013. Data were collected from the DMD patients' medical files obtained from the treating Department of Neurology and Department of Orthopedics of the Rummelsberg Hospital, a teaching hospital of the Friedrich-Alexander University of Erlangen-Nürnberg, Germany, and from a local general practitioner serving the facility. Data collection was authorized by the ethics committee of the FriedrichAlexander University of Erlangen-Nürnberg. Informed consent from patients was not required based on the retrospective analyses of medical records.Background and Purpose-Duchenne muscular dystrophy (DMD) is the most frequent skeletal muscle myopathy. Nearly all patients develop cardiomyopathy in their second decade of life. The purpose of this study was to evaluate the frequency, cause, and outcome of stroke in a German cohort of patients with DMD. Methods-Retrospective analysis of medical records of 54 DMD patients, who lived in a regional facility for handicapped people (Wichernhaus Altdorf, Germany) between 1963 and 2013. Results-Fifty-four DMD patients were followed up for 7.4 years on average. Mean age at admission and discharge from the long-term care facility or death were 11.4 and 18.8 years, respectively. Covering a total observation period of 400 patient-years, we identified 4 DMD patients with juvenile arterial ischemic strokes. Off-label systemic thrombolysis in 2 patients resulted in a nearly complete regression of stroke-related symptoms, but 1 patient died of septic pneumonia and cardiac failure 24 days after thrombolysis therapy. In the other 2 patients, who had their ischemic strokes in 1994 and 1998, severe infarction-related symptoms persisted, and 1 patient died 13 days later. DMD-associated cardiomyopathy without evidence of atrial fibrillation was the only risk factor for ischemic stroke in all patients. Conclusions-This study indicates an increased risk for ischemic strokes in DMD patients. Regular cardiological assessment of all DMD patients is mandatory to evaluate the individual risk profile for cardioembolic events and to adapt therapeutic strategies.

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“…Moreover, the researched deficiencies in the musculoskeletal system [5] and cardiac autonomic dysfunction have been previously well researched in DMD [21, 22]. …”

Section: Introductionmentioning

confidence: 99%

“…They found that the control group demonstrated a higher maximum heart rate on Holter monitoring than in DMD patients. Dittrich et al [22] assessed cardiac autonomic regulation in DMD, and the analytical value of the diagnostic procedures in clinical settings. Both of the abovementioned studies investigated the cardiac autonomic dysfunction in DMD.…”

Section: Introductionmentioning

confidence: 99%

Autonomic Modulation in Duchenne Muscular Dystrophy during a Computer Task: A Prospective Control Trial

et al. 2017

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IntroductionDuchenne Muscular Dystrophy (DMD) is characterized by progressive muscle weakness that can lead to disability. Owing to functional difficulties faced by individuals with DMD, the use of assistive technology is essential to provide or facilitate functional abilities. In DMD, cardiac autonomic dysfunction has been reported in addition to musculoskeletal impairment. Consequently, the objective was to investigate acute cardiac autonomic responses, by Heart Rate Variability (HRV), during computer tasks in subjects with DMD.MethodHRV was assessed by linear and nonlinear methods, using the heart rate monitor Polar RS800CX chest strap Electrocardiographic measuring device. Then, 45 subjects were included in the group with DMD and 45 in the healthy Typical Development (TD) control group. They were assessed for twenty minutes at rest sitting, and five minutes after undergoing a task on the computer.ResultsIndividuals with DMD had a statistically significant lower parasympathetic cardiac modulation at rest when compared to the control group, which further declined when undergoing the tasks on the computer.ConclusionDMD patients presented decreased HRV and exhibited greater intensity of cardiac autonomic responses during computer tasks characterized by vagal withdrawal when compared to the healthy TD control subjects.

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Cardiomyopathy in Duchenne Muscular Dystrophy: Current Value of Clinical, Electrophysiological and Imaging Findings in Children and Teenagers

Abstract: A timely cardiac MRI is the most sensitive investigation for the identification of early myocardial changes in DMD which is a prerequisite for early interventions and therapeutic strategies.

Cited by 30 publications

References 24 publications

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Stroke in Duchenne Muscular Dystrophy

Autonomic Modulation in Duchenne Muscular Dystrophy during a Computer Task: A Prospective Control Trial

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