Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1

Bassez, Guillaume; Lazarus, Arnaud; Desguerre, Isabelle; Varin, J.; Lafôret, P.; Bécane, Henri Marc; Meune, Christophe; Arné-Bès, Marie-Christine; Ounnoughene, Z.; Radvanyi, Hélène; Eymard, B.; Duboc, Denis

doi:10.1212/01.wnl.0000144343.91136.cf

Cited by 95 publications

(70 citation statements)

References 6 publications

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“…79,88,89,206,207 Rarely, dilated cardiomyopathy and HF can occur. 208 Thus, patients with DM and their care providers should be questioned as to the presence of syncope, palpitations, or breathlessness, 79,209 and electrocardiographic abnormalities, non-sinus rhythm, prolongation of the QRS interval (particularly with evidence of HV-interval prolongation), PR interval >240 ms, or higher degree of atrioventricular block should be regarded as a risk factor for sudden death.…”

Section: Cardiac Evaluation In Dmmentioning

confidence: 99%

“…79,210,211 Because physical exertion has been observed to be a proarrhythmic influence, serial exercise stress testing has been recommended for young DM1 patients. 207 CMR can be requested to noninvasively assess fatty infiltration and fibrosis in the myocardium. 212,213 An electrophysiology study may be indicated in anticipation of pacemaker/ICD implantation …”

Section: Cardiac Evaluation In Dmmentioning

confidence: 99%

See 1 more Smart Citation

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

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

220

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 Dmmentioning

confidence: 99%

Section: Cardiac Evaluation In Dmmentioning

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

220

195

View full text Add to dashboard Cite

show abstract

“…Conduction defects have been evidenced in Duchenne muscular dystrophy [41,42], Becker muscular dystrophy [43,44], myotonic dystrophy type 1 and 2 [45,46], Emery-Dreifuss muscular dystrophy [47], and limb girdle muscular dystrophy [48,49].…”

Section: Pkcs and Muscular Dystrophiesmentioning

confidence: 99%

PKC Proteins and Muscular Dystrophy

Gobbi

Galli

Carubbi

et al. 2018

JFMK

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Protein Kinase Cs (PKCs) are a family of 10 isoenzymes with critical roles in cell physiological processes like proliferation, differentiation, apoptosis. Muscular dystrophies are a heterogenous group of genetic degenerative diseases that affect skeletal and cardiac muscles. In the development of muscular dystrophies, several transduction pathways have been studied. A possible link between muscular dystrophies and PKCs have been recently proposed. After a brief description of the possible transduction pathways that are involved in the development of these genetic diseases, we summarize recent evidence on the role of PKC proteins in muscular dystrophies, with the aim to review possible candidates in molecular therapy of these pathologies.

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“…Cardiac abnormalities can be diagnosed as early as the second decade of life in the childhood type (79). Conduction disturbances occur in 65% of adults (80); pathology studies showed fibrosis of conduction system and diffuse interstitial fibrosis throughout the myocardium (81).…”

Section: Cardiac Disease In Dm1mentioning

confidence: 99%