Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy

Fishbein, Michael C.; Siegel, Robert J.; Thompson, Charlotte; Hopkins, Linton C.

doi:10.7326/0003-4819-119-9-199311010-00006

Cited by 73 publications

(41 citation statements)

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“…The atria and ventricles are involved in heterogenic degeneration of the myocardium in which muscular tissue is replaced by fibrotic and adipose tissue [5,10,13]. In all patients except one leads were placed in areas with proper pacing parameters despite the possibility of local right ventricular degeneration.…”

Section: Discussionmentioning

confidence: 99%

“…The clinical presentation of EDMD is exceptional because even mild pathology of the skeletal muscles is accompanied by cardiac pathology, which may result in sudden cardiac death (SCD) [5]. The first cardiologic symptoms are observed during the second to fourth decades of life.…”

Section: Introductionmentioning

confidence: 99%

“…Morphologically, this results in electrical inhomogeneity. Inhomogeneous degeneration affects various cardiac areas, including the atria and ventricles [5,13]. The EDMD-associated changes that develop over time in the nervous and cardiovascular systems have both direct and indirect effects on preliminary indications for, and the ultimate implantation of, the specific permanent electrotherapy device.…”

Section: Introductionmentioning

confidence: 99%

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Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up

Steckiewicz¹,

Stolarz²,

Świętoń³

et al. 2016

Kardiol Pol

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A b s t r a c tBackground: Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition associated with cardiac arrhythmias. The patients typically develop early, asymptomatic bradyarrhythmia, which may lead to sudden death, preventable with a cardiac implantable electronic device (CIED). EDMD may be characterised by atrial electrical silence. Intra-operative electrophysiological evaluation of the myocardium helps ultimately determine the true nature of the disorder and select an appropriate CIED. Aim:To analyse permanent electrotherapy procedures in EDMD patients: atrial pacing limitations that stem from the electrophysiological properties of the myocardium and long-term follow-up of implanted devices.Methods: A total of 21 EDMD patients (mean age 29 ± 9 years) with a CIED implanted due to bradyarrhythmia were included in the study. The implantation procedures and factors determining the CIED type selection were analysed.Results: CIEDs were implanted in five women and in 16 men with EDMD types 1 and 2 (mean follow-up: 11 ± 8 years). Intra-operatively assessed atrial electrophysiology resulted in changing the planned CIED type during the procedure in three men with EDMD type 1. Eventually, we implanted: eight DDD, one VDD, 11 VVI, and one CD-DR device, with four of the patients' devices switched later from DDD to VVI mode in response to electrophysiological changes in the atria. Conclusions:Intra-operative assessment of atrial electrophysiological properties resulted in changing the planned DDD mode for VVI in 19% of patients with EDMD type 1. Progression of the underlying disease over a 39-year follow-up resulted in a later change of the initially selected pacing mode from DDD to VVI in 40% of cases.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up

Steckiewicz¹,

Stolarz²,

Świętoń³

et al. 2016

Kardiol Pol

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“…The evolution of the pathologic processes at the atrial level is progressive and in a histopathologic post-mortem study on three hearts a marked loss of atrial myocardium was found, with evidence that the atrial myocardium had been replaced by adipose and fibrous tissue [28]. This impressive derangement of the atrial walls fits with the recent concepts of ‘atrial cardiomyopathy’[29], corresponding to any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically-relevant manifestations [30].…”

Section: Bradyarrhythmias Atrial Fibrillation and Atrial Fluttermentioning

confidence: 99%

Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

Boriani

Biagini

Ziacchi

et al. 2018

Nucleus

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Lamin A/C gene mutations can be associated with cardiac diseases, usually referred to as ‘cardiolaminopathies’ characterized by arrhythmic disorders and/or left ventricular or biventricular dysfunction up to an overt picture of heart failure. The phenotypic cardiac manifestations of laminopathies are frequently mixed in complex clinical patterns and specifically may include bradyarrhythmias (sinus node disease or atrioventricular blocks), atrial arrhythmias (atrial fibrillation, atrial flutter, atrial standstill), ventricular tachyarrhythmias and heart failure of variable degrees of severity. Family history, physical examination, laboratory findings (specifically serum creatine phosphokinase values) and ECG findings are often important ‘red flags’ in diagnosing a ‘cardiolaminopathy’. Sudden arrhythmic death, thromboembolic events or stroke and severe heart failure requiring heart transplantation are the most dramatic complications of the evolution of cardiolaminopathies and appropriate risk stratification is clinically needed combined with clinical follow-up. Treatment with cardiac electrical implantable devices is indicated in case of bradyarrhythmias (implant of a device with pacemaker functions), risk of life-threatening ventricular tachyarrhythmias (implant of an ICD) or in case of heart failure with wide QRS interval (implant of a device for cardiac resynchronization). New technologies introduced in the last 5 years can help physicians to reduce device-related complications, thanks to the extension of device longevity and availability of leadless pacemakers or defibrillators, to be implanted in appropriately selected patients. An improved knowledge of the complex pathophysiological pathways involved in cardiolaminopathies and in the determinants of their progression to more severe forms will help to improve clinical management and to better target pharmacological and non-pharmacological treatments.

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“…Conduction disturbances may also involve the infranodal conduction system resulting in slow junctional escape rhythms or complete heart block. 6,7 Atrial standstill is a pathognomonic finding, 8 with a lack of atrial response to intracardiac electrical or mechanical stimulation. 9 Cardiomyopathy with poor left ventricular function occurs less commonly.…”

Section: Objectif : Présenter Le Cas D'un Patient Atteint De Dystropmentioning

confidence: 99%

The anesthetic management of a patient with Emery-Dreifuss muscular dystrophy for orthopedic surgery

Aldwinckle¹,

Carr²

2002

Can J Anesth/J Can Anesth

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P Pu ur rp po os se e: : To report a patient with Emery-Dreifuss muscular dystrophy (EDMD) coming for an orthopedic procedure, with potential problems of sudden cardiac death, difficult airway, and neuromuscular disorders who was managed successfully by permanent pacemaker insertion, total iv anesthesia (TIVA), laryngeal mask insertion (LMA) insertion and continuous epidural blockade.C Cl li in ni ic ca al l f fe ea at tu ur re es s: : A 22-yr-old man with known EDMD presented for triple arthrodesis of his right foot and fractional lengthening of his hamstrings bilaterally. Anesthesia was induced with a TIVA technique, and maintained throughout the operative period. A suspected difficult airway was managed by the use of a LMA, and analgesia for the peri-, and postoperative period provided by a continuous epidural infusion. The patient's perioperative course was uneventful.C Co on nc cl lu us si io on n: : EDMD is a rare disorder. However, anesthesia is often required for orthopedic procedures. This case report illustrates the many potential difficulties that may be encountered. Regional anesthesia combined with light general anesthesia offers a method of avoiding many of these difficulties.

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Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy

Abstract: Emery-Dreifuss muscular dystrophy is associated with characteristic pathologic changes in the heart that can cause death in female carriers and affected men. Female carriers should be identified and evaluated because of the risk for sudden cardiac death.

Cited by 73 publications

References 0 publications

Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up

Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up

Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

The anesthetic management of a patient with Emery-Dreifuss muscular dystrophy for orthopedic surgery

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