Sudden death in an Emery-Dreifuss muscular dystrophy patient with an implantable defibrillator

American Journal of Physical Medicine and Rehabilitation

Volumn 87, Issue 4, 2008, Pages 325-329

  Zaim, Sina ^a   Bach, John ^a   Michaels, Jennifer ^a  

^a RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

Author keywords

Chronic Alveolar Hypoventilation; Emery Dreifuss Muscular Dystrophy; Implantable Cardioverter Defibrillator; Sudden Death

Indexed keywords

PROPRANOLOL DERIVATIVE; QUINIDINE;

ADULT; ANAMNESIS; ARTICLE; AUTOPSY; CASE REPORT; CLINICAL FEATURE; DEFIBRILLATOR; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; HEART FUNCTION; HEART LEFT VENTRICLE FUNCTION; HEART VENTRICLE TACHYCARDIA; HOSPITALIZATION; HUMAN; LABORATORY TEST; LUNG FUNCTION TEST; PHYSICAL EXAMINATION; RATING SCALE; SCORING SYSTEM; SUDDEN DEATH; VITAL CAPACITY;

ADULT; DEATH, SUDDEN, CARDIAC; DEFIBRILLATORS, IMPLANTABLE; FEMALE; HUMANS; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; RESPIRATORY INSUFFICIENCY; TACHYCARDIA, VENTRICULAR;

EID: 41349096279     PISSN: 08949115     EISSN: None     Source Type: Journal    
DOI: 10.1097/PHM.0b013e318168b9d4     Document Type: Article

References (26)

1. Bach JR, Alba AS, Saporito LR: Intermittent positive pressure ventilation via the mouth as an alternative to tracheostomy for 257 ventilator users. Chest 1993;103:174-82
2. Wyse DG, Nath FC, Brownell AK: Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. Pacing Clin Electrophysiol 1987;10:533-7
3. Fishbein MC, Siegel RJ, Thompson CE, Linton C: Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. Ann Intern Med 1993;119:900-5
4. Sakata K, Shimizu M, Ino H, et al: High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation 2005;111:3352-8
5. Emery AEH, Dreifuss FE: Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 1966;29:338-42
6. Emery AEH: Emery-Dreifuss syndrome. J Med Genet 1989;26:637-41
7. Emery AEH: The muscular dystrophies. Lancet 2002;369:687-95
8. Boriani G, Gallina M, Merlini L, et al: Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant and heart failure in Emery-Dreifuss muscular dystrophy. Stroke 2003;34:901-8
9. Buckley AE, Dean J, Mahy IR: Cardiac involvement in Emery-Dreifuss muscular dystrophy: a case series. Heart 1999;82:105-8
10. Rakovec P, Zidar J, Sinkovec M, Zupan I, Brecelj A: Cardiac involvement in Emery-Dreifuss muscular dystrophy: role of a diagnostic pacemaker. Pacing Clin Electrophysiol 1995;18:1721-4
11. Anselme F, Meune C, Van Berlo J, et al: Prophylactic ICD implantation in patients with lamin A/C gene mutation. Heart Rhythm 2006;3:S53
12. Meune C, Van Berlo JH, Anselme F, Bonne G, Pinto YM, Duboc D: Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006;354:209-10
13. Bach JR: Disease assessment and evolution, in Bach JR (ed): The Management of Patients with Neuromuscular Disease. Philadelphia, Hanley&Belfus, 2004, pp 3-28
14. Myerburg RJ, Castellanos A: Cardiac arrest and sudden cardiac death, in Libby E: Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, ed 8. Philadelphia, Saunders, 2007, p 933
15. Sanna T, Dello Russo A, Toniolo D, et al: Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J 2003;24:2227-36
16. Carvalho AAdS, Levy JA, Gutierez PS, Marie SKN, Sosa EA, Scanavaca M: Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation: case report. Arq Neuropsiquiatr 2000;58:1123-7
17. Redding GJ, Okamoto GA, Guthrie RD, Rollevson D, Milstein JM: Sleep patterns in nonambulatory boys with Duchenne muscular dystrophy. Arch Phys Med Rehabil 1985;66:818-21
18. Sykes NP: People with MND/ALS using noninvasive positive pressure ventilation: how do they die? Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 11th International Symposium, World Federation of Neurology. London, ALS Foundation, 2000, p 40
19. Neudert C, Oliver D, Wasner M, Borasio GD: The course of the terminal phase in patients with amyotrophic lateral sclerosis. J Neurol 2001;248:612-6
20. Bach JR, Rajaraman R, Ballanger F, et al: Neuromuscular ventilatory insufficiency: the effect of home mechanical ventilator use vs. oxygen therapy on pneumonia and hospitalization rates. Am J Phys Med Rehabil 1998;77:8-19
21. Simonds AK: Respiratory complications of the muscular dystrophies. Semin Respir Crit Care Med 2002;23:231-8
22. Bach JR: Update and perspectives on noninvasive respiratory muscle aids: part 1 - the inspiratory muscle aids. Chest 1994;105:1230-40
23. Bach JR: Update and perspectives on noninvasive respiratory muscle aids: part 2 - the expiratory muscle aids. Chest 1994;105:1538-44
24. Bach JR, Chaudhry SS: Management approaches in muscular dystrophy association clinics. Am J Phys Med Rehabil 2000;79:193-6
25. Finder JD, Birnkrant D, Carl F, et al: Respiratory care of patients with Duchenne muscular dystrophy: American Thoracic Society consensus statement. Am J Respir Crit Care Med 2004;170:456-65
26. Bach JR, van der Schans C: The physiological basis of aiding respiratory muscles, in Bach JR: The Management of Patients with Neuromuscular Disease. Philadelphia, Hanley & Belfus, 2004, pp 187-210