Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies

Wang, Shuai; Peng, Daoquan

doi:10.1536/ihj.17-604

Cited by 39 publications

(45 citation statements)

References 50 publications

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“…In the muscular dystrophies due to laminopathies the risk of arrhythmias increases with age (the penetrance of LMNA mutations is almost complete for cardiac phenotype), but their occurrence may be different in patients with emerinopathy and laminopathy. Early cardiac involvement in laminopathies is usually characterized by a prolonged PR interval, which may progress to advanced AVB and is explained by gradual replacement of myocardium by fibrous and adipose tissue [6,7]. Several hypotheses have been proposed to explain the problem of cardiac phenotype variability in patients with mutated LMNA or EMD genes [8,9].…”

Section: Discussionmentioning

confidence: 99%

Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study

Marchel

Madej-Pilarczyk

Tymińska

et al. 2021

JCM

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Introduction: Cardiac involvement in patients with muscular dystrophy associated with Lamin A/C mutations (LMNA) is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias. Little is known about cardiac involvement in patients with emerin mutation (EMD). The aim of our study was to describe and compare the prevalence and time distribution of cardiac arrhythmias at extended follow-up. Patients and methods: 45 consecutive patients affected by muscular dystrophy associated to laminopathy or emerinopathy were examined. All patients underwent clinical evaluation, 12-lead surface electrocardiogram (ECG), 24 h electrocardiographic monitoring, and cardiac implanted device interrogation. Results: At the end of 11 (5.0–16.6) years of follow-up, 89% of the patients showed cardiac arrhythmias. The most prevalent was atrial standstill (AS) (31%), followed by atrial fibrillation/flutter (AF/Afl) (29%) and ventricular tachycardia (22%). EMD patients presented more frequently AF/AFl compared to LMNA (50% vs. 20%, p = 0.06). Half of the EMD patients presented with AS, whilst there was no occurrence of such in the LMNA (p = 0.001). Ventricular arrhythmias were found in 60% of patients with laminopathy compared to 3% in patients with emerinopathy (p < 0.001). The age of AVB occurrence was higher in the LMNA group (32.8 +/− 10.6 vs. 25.1 +/− 9.1, p = 0.03). Conclusions: Atrial arrhythmias are common findings in patients with muscular dystrophy associated with EMD/LMNA mutations; however, they occurred earlier in EMD patients. Ventricular arrhythmias were very common (60%) in LMNA and occurred definitely earlier compared to the EMD group.

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Section: Discussionmentioning

confidence: 99%

Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study

Marchel

Madej-Pilarczyk

Tymińska

et al. 2021

JCM

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“…The phenotype is characterized by triad joint contractures (elbows, Achilles tendons, and posterior cervical muscles), humeroperoneal muscle weakness, and cardiac involvement as conduction disturbances [6,7,8,9,10,11,12]. Although female carriers of EDMD1 are usually asymptomatic, they can sometimes present clinical symptoms such as cardiac arrhythmias, including atrial fibrillation or atrioventricular (AV) block [3,13,14,15,16,17,18]. These can lead to sudden cardiac death [19,20].…”

Section: Introductionmentioning

confidence: 99%

X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Viggiano¹,

Madej-Pilarczyk

Carboni

et al. 2019

Genes

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X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern. The XCI pattern was determined on the lymphocytes of 30 symptomatic and asymptomatic EDMD1 female carriers—25 familial and 5 sporadic cases—seeking genetic advice using the androgen receptor (AR) methylation-based assay. Carriers were subdivided according to whether they were above or below 50 years of age. A variance analysis was performed to compare the XCI pattern between symptomatic and asymptomatic carriers. The results show that 20% of EDMD1 carriers had cardiac symptoms, and that 50% of these were ≥50 years of age. The XCI pattern was similar in both symptomatic and asymptomatic carriers. Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue.

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“…ventricular arrhythmias and dilated cardiomyopathy) at younger ages than EDMD1. This phenotype in EDMD2 is related to the muta- tion in the LMNA gene encoding lamin A and C, which are components of the nuclear envelope (4). Notably, LMNA mutations are known to account for 6%-8% of dilated cardiomyopathies with conduction defect or ventricular arrhythmia, which are associated with a high risk of sudden cardiac death (5,6).…”

Section: Discussionmentioning

confidence: 99%

Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy

et al. 2020

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A 23-year-old man had progressive muscle weakness and Emery-Dreifuss muscular dystrophy (EDMD) due to a LMNA (lamin A/C) mutation. Congestive heart failure diagnosed at 19 years of age. Maximal drug treatment/cardiac resynchronization failed to improve the cardiac function. He was therefore hospitalized due to heart failure. Despite extracorporeal membrane oxygenation, he developed severe right heart dysfunction and died (multiple organ failure). A cardiac lesion's presence determines the prognosis of EDMD. While there are many arrhythmia reports, few reports on heart failure (particularly severe heart failure requiring cardiac transplantation) have been published. Right heart function monitoring and early ventricular-assist device use plus right heart support considering heart transplantation are important.

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Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies

Cited by 39 publications

References 50 publications

Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study

Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study

X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy

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