Europace Advance Access published online on October 29, 2007
Europace, doi:10.1093/europace/eum236
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CASE REPORT
‘Unexpected’ sudden death avoided by implantable cardioverter–defibrillator in Emery–Dreifuss patient
1 Division of Cardiology, Department of Internal Medicine, University of Turin, Turin, Italy; 2 Department of Cardiology, Cardinal G. Massaia Hospital, Asti, Italy
Manuscript submitted 15 August 2007. Accepted after revision 26 September 2007.
* Corresponding author: Divisione Universitaria di Cardiologia, Ospedale San Giovanni Battista, Corso A.M. Dogliotti, 14, 10126 Torino, Italy. Tel: +39 0116636165; fax: +39 0116967053. E-mail address: pgolzio{at}molinette.piemonte.it pg.golzio{at}gmail.com pg.golzio{at}libero.it
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A female patient just over 20 years of age developed first grade atrioventricular block, and later atrial fibrillation. When she was 41 years old she was diagnosed with Emery-Dreifuss muscular dystrophy (EDMD). A VVIR pacemaker was implanted in 2002, replaced in 2003 with an ICD. Nine months later, during febrile illness, the patient experienced three appropriate ICD discharges. No further ICD interventions occurred. The transient course of arrhythmic activity and the possible influence of triggering factors lessen the role of electrophysiologic study to identify risk of sudden death, and suggest that in patients with EDMD requiring pacemaker implantation, an ICD would be more properly indicated.
Key Words: Sudden death, familial cardiomyopathy, arrhythmia, LMNA gene, ICD, primary prevention
The efficacy of implantable cardioverter-defibrillators (ICDs) in the secondary prevention of sudden death and also in primary prevention in patients with a reduced ejection fraction is well documented; however, some uncertainty still exists whether ICD therapy is efficacious in particular cases, such as in Emery–Dreifuss muscular dystrophy (EDMD). We want to discuss our experience with one EDMD patient, a female born in 1960, healthy to all appearances, although. Since childhood, she complained of neck and spinal stiffness. When she was 23 years old, after sudden palpitations, the ECG showed a sinus rhythm with first degree atrioventricular block, decreased P wave amplitude and, at times, arrhythmic atrial activity, with ectopic beats and short runs of atrial tachycardia.
In September 1993, after natural full term delivery she again complained of palpitations and the ECG disclosed a low rate atrial fibrillation (AF). The echocardiogram was substantially normal. An electric cardioversion was effective in restoring a transient bradycardiac sinus rhythm with atrioventricular dissociation and junctional escape rhythm. Since 1997, the AF became permanent, and atrial standstill was observed since 2000. In 2001, the woman's daughter was diagnosed as having the autosomal dominant form of EDMD. Although searching for other affected family members, it became clear that the mother was affected (sequence analysis of the LMNA gene revealed heterozygous 1357C > T substitution affecting exon 7, causing the missense amino acid change 453 Arg > Trp in the common globular tail). A family pedigree revealed that many family members died suddenly.
According to the possible evolution toward a complete AV block in patients with EDMD, and to Holter evidence of a low-rate AF, on January 2002 we implanted a permanent VVI-R pacemaker. Later, the patient complained of palpitations, and follow-up Holter monitoring demonstrated recurrent paroxysmal ventricular tachyarrhythmias (frequent premature ventricular contractions, of a predominantly single morphology, with late coupling intervals, often after paced beats; generally single beats or couples and rarely escape runs of accelerated idioventricular rhythm, and, sporadically, runs of non-sustained ventricular tachycardia, with a minimum R'–R' interval between 400 and 500 ms, sometimes after a long-short spontaneous cycle, were observed).
In August 2003, we performed ventricular lead extraction, and replaced the pacemaker with an ICD. Nine months later, while suffering from acute tonsillitis with fever (body temperature of approximately 38.5–39.0°C), the patient experienced three discharges of the ICD. Her ECG showed repolarization abnormalities, with notching in the ST-segment/T-wave, which normalized the following day. The examination showed no significant findings and laboratory tests were found within normal values, particularly with normal serum K+ (4.5 mEq/l). Interrogation of the device revealed three proper and effective discharges during three distinct episodes of fast polymorphic ventricular tachycardia rapidly deteriorating into ventricular fibrillation (cycle length 270–190 ms, Figure 1). An echocardiogram performed after the acute phase, before discharge from the hospital, demonstrated biatrial enlargement; slightly depressed ventricular function owing to extensive hypokinesis, with an ejection fraction of about 40%; mild mitral and tricuspid regurgitation, and an estimated pulmonary artery pressure of nearly 40 mm Hg. At the present time, no further episodes of severe ventricular arrhythmia have been documented, and control echocardiograms are substantially unchanged, except for a light reduction of pulmonary artery pressure to 26–30 mm Hg.
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EDMD is a genetic disorder, characterized by childhood or early adolescence onset of contractures of the elbows, Achilles' tendons and neck extensor muscles, weakness in the humeral and peroneal muscles, and cardiomyopathy. As the disease progresses, the weakness may spread to involve the proximal limb-girdle muscles.1
–4 Perhaps the most critical clinical aspect of EDMD is cardiac involvement, which may appear as conduction defects, ventricular disrhythmias and dilated cardiomyopathy.5 From the 1980s, it has been known that ‘benign’ X-linked EDMD could induce malignant cardiac manifestations, including, in addition to the previously emphasized conduction defects, major thromboembolic events, valvular dysfunction, severe congestive heart failure6 and ventricular tachyarrhythmias.4,7,8
Sudden death is not uncommon in EDMD,4,7–9 and early use of pacemakers may be lifesaving.5,10 The use of a pacemaker alone was considered in the last decade adequate to control the progression of conduction defects. This concept was included in the guidelines for implantation of cardiac pacemakers and antiarrhythmia devices11 that, with a variable level of evidence, indicate the implantation of a pacemaker in patients affected by muscular dystrophy because of the inability to properly predict any worsening of conduction defects. Nevertheless, implantation of pacemakers in Emery–Dreifuss patients does not seem to prevent sudden cardiac death.4,5,12,13
Our experience clearly shows that sudden death in EDMD patients can also be related to serious ventricular arrhythmias, long before subsequently gaining supporting evidence.14 Actually, in 2004, a single case report15 described the implantation of a biventricular defibrillator in one Emery–Dreifuss patient, only to demonstrate that a defibrillator implant was feasible and safe in such patients, but without any further specifications regarding appropriate intervention at follow-up. Another point of interest lies in the transient feature of the arrhythmic burden that seems to be related to a triggering factor (fever), associated with transient ECG changes, and never observed in the follow-up. These findings probably lessen the role of electrophysiologic study performed in the basal state in identifying high risk of sudden death. Thus, we propose that, in patients with EDMD requiring pacemaker implantation, the implant of an ICD device should be considered instead.
Conflict of interests: None of the authors has any association (either commercial or industrial) that may pose a conflict of interest.
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