Echocardiographic assessment of left ventricular morphology and function in patients with Emery–Dreifuss muscular dystrophy

Dramińska, Agnieszka; Kuch-Wocial, Agnieszka; Szulc, Marcin; Zwoliñska, A.; Styczyński, Grzegorz; Kostrubiec, Maciej; Hausmanowa-Pétrusewicz, I; Pruszczyk, Piotr

doi:10.1016/j.ijcard.2004.05.015

Cited by 8 publications

(7 citation statements)

References 19 publications

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“…Cardiac involvement is estimated to occur in more than 90% of patients with the condition, manifesting as a variety of conduction defects and variable dilated cardiomyopathy. 3,4 More specifically, electrocardiography can show bradycardia from both sinoatrial or atrioventricular origins, as well as tachyarrhythmia from atrial or ventricular origins. 5 In X-linked and autosomal dominant forms of Emery-Dreifuss muscular dystrophy, there is a high rate of atrial fibrillation and flutter, and atrial standstill, which increases the risk of thromboembolic events and stroke.…”

Section: Discussionmentioning

confidence: 99%

Cardiac manifestations in Emery–Dreifuss muscular dystrophy

Faiella

Bessoudo

2018

CMAJ

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A 35-year-old man with a known history of Emery-Dreifuss muscular dystrophy called emergency medical services (EMS) while at work one morning, reporting palpitations, lightheadedness, fatigue and a rapid heart rate. On arrival by EMS, his pulse was documented at 195-200 beats/min, and his rhythm strips showed ventricular tachycardia ( Figure 1A). He underwent cardioversion and was given a bolus of amiodarone, 150 mg intravenously. In the emergency department and during admission, his symptoms persisted with rhythm strips showing recurrent episodes of sustained ventricular tachycardia (Figure 1B). He was subsequently started on an amiodarone drip and oral metoprolol. Echocardiography performed during admission showed dilated cardiomyopathy with severe systolic dysfunction and an estimated ejection fraction of 23%. Cardiac catheterization was performed to rule out an ischemic cause of the cardiomyopathy and showed normal coronary arteries. The patient received an implantable cardioverter-defibrillator and was discharged with prescriptions for an oral β-blocker and amiodarone. As an out patient, his amiodarone is slowly being weaned because he has had no recurrent episodes of ventricular tachycardia.With respect to the patient's diagnosis of Emery-Dreifuss muscular dystrophy, he first saw a neurologist at age 14 years after multiple operations to lengthen his Achilles tendon owing to persistent "toe walking," which is characteristic of the disease. He was subsequently referred to a muscular dystrophy specialist at age 15, when the diagnosis of Emery-Dreifuss muscular dystrophy was confirmed. Aside from the contractures of his Achilles tendons, he also has substantial difficulty with neck flexion secondary to contractures in his neck extensors. The patient lives in a community with limited access to specialist care and has therefore not followed up with a muscular dystrophy specialist since age 15, because it would require substantial travel to a larger tertiary care centre. The patient's first echocardiogram at age 15 showed a dilated cardiomyopathy with an ejection fraction of 45%-50%. He was subsequently started on an angiotensinconverting enzyme (ACE) inhibitor by a cardiologist. He elected not to start a β-blocker because of potential adverse effects, including fatigue. Subsequently, he had a total of 4 follow-up appointments over the next 20 years with his cardiologist, where he remained completely asymptomatic from a cardiac perspective. He underwent serial echocardiography tests, which ultimately showed progression of his cardiomyopathy. His next echocardiogram almost 10 years later showed a dilated left ventricle with mild global systolic dysfunction (ejection fraction of 45%), which progressed to moderate left ventricular systolic dysfunction (ejection fraction of 35%-40%) over the PRACTICE | CASES

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Section: Discussionmentioning

confidence: 99%

Cardiac manifestations in Emery–Dreifuss muscular dystrophy

Faiella

Bessoudo

2018

CMAJ

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“…[179][180][181] Autosomal dominant and X-linked EDMD are associated with bradyarrhythmias, atrial fibrillation (AF)/atrial flutter, heart block, and ventricular dilation with or without systolic dysfunction, [182][183][184] whereas autosomal recessive EDMD is associated with conduction defects and premature atrial and ventricular contractions. 185 Because sudden death can be the presenting cardiac feature, cardiac screening of individuals with EDMD and first-degree relatives (including female carriers of X-linked EDMD) has been recommended.…”

Section: Cardiac Evaluation In Edmdmentioning

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

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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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“…No myocardial fibrosis in CMR was detected in the early stages of LMNA cardiomyopathy. Draminska [14] presented echocardiographic data on LV diameters and LVEF. However, LVEF was calculated using the Teichholz method, which is not recommended any more [19,21].…”

Section: Discussionmentioning

confidence: 99%

“…Patients with LMNA mutation are at high risk of sudden death [12] because of ventricular arrhythmias and/or fast progressing cardiac failure in the course of cardiomyopathy, while EMD patients suffer more from supraventricular arrhythmias; moreover, atrial standstill is a typical phenomenon [13]. ere are some data focusing on left ventricular (LV) systolic function [14,15] and case series describing cardiac dysfunction [16,17], but there is a lack of systematic assessment of the right ventricle as well as both atria. e aim of the study was to characterize and compare the cardiac morphology and function in the two main genetic subgroups of EDMD.…”

Section: Introductionmentioning

confidence: 99%

Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Marchel

Madej-Pilarczyk

Tymińska

et al. 2021

Cardiology Research and Practice

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Background. Emery-Dreifuss muscular dystrophy (EDMD) is a very rare type of muscular dystrophy characterized by musculoskeletal abnormalities accompanied by cardiac defects. Two most common genetic subtypes are EDMD1 due to EMD and EDMD2 caused by LMNA gene mutations. The aim of the study was to characterize and compare the cardiac morphology and function in the two main genetic subgroups of EDMD with the use of echocardiography. Methods. 41 patients with EDMD (29 EDMD1 and 12 EDMD2) as well as 25 healthy controls were enrolled in our study. Transthoracic echo with the use of a prescribed protocol was performed. Results. Highly statistically significant differences with regard to left ventricle (LV) volumes between the EDMD and the control group were found. 51% of EDMD patients had an enlarged left atrium and as many as 71% had an enlarged right atrium. The LV ejection fraction (LVEF) was significantly lower in EDMD patients than in the control group which corresponded also with a lower systolic velocity of the mitral annulus. 43% of EDMD patients had LVEF below the normal limit. Diastolic dysfunction was detected in 17% of EDMD patients. There were no significant differences between the two types of EDMD in terms of diameters and volumes of any chamber, as well as the systolic function of both left and right ventricles. Conclusions. A significant number of EDMD patients present LV dilatation and different degrees of systolic dysfunction. Dilatation of the atria dominates over ventricle dilatation. We did not present any significant differences between EDMD1 and EDMD2 in terms of the morphology and the function of the heart.

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Echocardiographic assessment of left ventricular morphology and function in patients with Emery–Dreifuss muscular dystrophy

Cited by 8 publications

References 19 publications

Cardiac manifestations in Emery–Dreifuss muscular dystrophy

Cardiac manifestations in Emery–Dreifuss muscular dystrophy

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

Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

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