Cardiac involvement in myotonic dystrophy: a nationwide cohort study

Lund, Marie; Díaz, Lars Jorge; Ranthe, Mattis F.; Petri, Helle; Dunø, Morten; Juncker, Inger; Eiberg, Hans; Vissing, John; Bundgaard, Henning; Wohlfahrt, Jan; Melbye, Mads

doi:10.1093/eurheartj/ehu157

Cited by 54 publications

(28 citation statements)

References 16 publications

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“…86,87 Cardiac manifestations are present in ≈80% of DM1 patients, and the risk of developing cardiac disease is 10-to 20-fold higher in younger patients (2-30 years old). 88 Dilated cardiomyopathy has been reported, but progressive atrioventricular or intraventricular conduction defects and tachyarrhythmias (ventricular and supraventricular) are the most life-threatening forms of cardiac complications. [89][90][91] In older patients, age-related cardiovascular diseases such as valvulopathy and coronary artery disease may also be observed.…”

Section: Myotonic Dystrophymentioning

confidence: 99%

“…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%

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

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

223

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: Myotonic Dystrophymentioning

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

223

195

View full text Add to dashboard Cite

show abstract

“…Genetic testing for DM was available for approximately half the study period and results from all laboratories in Denmark, if performed, during the study period were obtained. Thereby the average positive predictive value of a DM diagnosis used in the present study was approximately 93% [29] making the effect of misclassification minor. Of note, our study does not allow for inferences about the risk of cancer in DM relatives according to DM1 and DM2 subtype but very few DM2 patients have been genetically diagnosed in Denmark [29].…”

Section: Discussionmentioning

confidence: 65%

Risk of cancer in relatives of patients with myotonic dystrophy: a population‐based cohort study

Lund

Díaz

Gørtz

et al. 2014

Euro J of Neurology

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“…Cardiac involvement occurs in 60-80% of patients and manifests as a progressive conduction disorder, atrial arrhythmias (atrial fibrillation or atrial flutter), ventricular arrhythmias and systolic dysfunction of left ventricle [1,[4][5][6][7]. The most common ECG changes are first degree atrioventricular (AV) block, intraventricular conduction delay (prolonged QRS complex) and prolongation of QT interval [4,5]. Cardiac biopsy in affected individuals reveals fibrosis, fatty deposits and hypertrophy which may constitute a substrate for arrhythmias [8].…”

Section: Discussionmentioning

confidence: 99%

Broad QRS complex tachycardia in a patient with myotonic dystrophy (Steinert disease) (RCD code: V-4O)

Majewski

Lelakowski

2017

Journal of Rare Cardiovascular Diseases

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Myotonic dystrophy is a rare inherited condition affecting primarily skeletal muscles and commonly associated with cardiovascular pathology. We report a case of a 50-year old female with myotonic dystrophy type 1 who presented with wide-QRS complex tachycardia and hemodynamic compromise which was treated with direct current cardioversion. Echocardiogram did not reveal any structural heart disease and coronary angiogram was normal. Electrocardiogram in sinus rhythm showed non-specific intraventricular conduction delay and borderline PR interval. She refused cardioverter-defibrillator (ICD) implantation and was discharged on oral amiodarone. The case report shows that life-threatening arrhythmia could be the first cardiac manifestation in patients with myotonic dystrophy. JRCD 2017; 3 (3): 89-91

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Cardiac involvement in myotonic dystrophy: a nationwide cohort study

Abstract: Myotonic dystrophy is strongly associated with cardiac disease. The risk is pronounced in the young and remains elevated throughout life, stressing the importance of lifelong cardiac follow-up from time of DM diagnosis.

Cited by 54 publications

References 16 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

Risk of cancer in relatives of patients with myotonic dystrophy: a population‐based cohort study

Broad QRS complex tachycardia in a patient with myotonic dystrophy (Steinert disease) (RCD code: V-4O)

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