BACKGROUND: Charcot-Marie-Tooth is the most common inherited neuromuscular disorder. Rarely, it can be associated with heart failure and various arrhythmic disturbances. This case illustrates the challenges of making decisions to prevent sudden cardiac death in a patient with Charcot-Marie-Tooth disease. CASE SUMMARY: A 69-year-old male with a history of Type 1A Charcot-Marie-Tooth disease was admitted due to repetitive runs of ventricular tachycardia. Twelve-lead electrocardiogram, echocardiography, selective coronary angiography, and cardiac magnetic resonance did not clarify the cause of the electrical storm. As conservative therapy was not successful, radiofrequency ablation was chosen to treat the electrical storm. After this procedure, implantable cardioverter defibrillator (ICD) was implanted. The follow-up revealed severe perforation by the ventricular lead. An extraction was performed with no complications and a new lead was immediately implanted. The patient remains asymptomatic. Three episodes of non-sustained ventricular tachycardia were recorded during the last follow-up. DISCUSSION: This case illustrates the challenges of making decisions to prevent sudden cardiac death in a patient with Charcot-Marie-Tooth disease after successful ablation for electrical storm. Due to a lack of evidence, atypical origin of arrhythmia, and clinical presentation, we did not consider this as idiopathic arrhythmia and decided to implant an ICD, which was complicated by severe perforation by the lead. Specific recommendations for preventing sudden cardiac death in rare cardiac conditions, such as Charcot-Marie-Tooth disease, still need to be refined.

Department of Internal Medicine and Cardiology Faculty of Medicine University Hospital Ostrava University of Ostrava 17 listopadu 1790 708 52 Ostrava Czech Republic

Research Center for Internal and Cardiovascular Diseases Faculty of Medicine University of Ostrava 17 listopadu 1790 708 52 Ostrava Czech Republic

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Morena  J, Gupta  A, Hoyle  JC. Charcot–Marie–Tooth: from molecules to therapy. Int J Mol Sci  2019;20:3419. PubMed PMC

Okamoto  Y, Takashima  H. The current state of Charcot–Marie–Tooth disease treatment. Genes (Basel)  2023;14:1391. PubMed PMC

Pareyson  D, Marchesi  C. Diagnosis, natural history, and management of Charcot–Marie–Tooth disease. Lancet Neurol  2009;8:654–667. PubMed

Battistella  PA, Moreolo  GS, Benetti  E, Da Dalt  L, Pellegrino  PA. Charcot–Marie–Tooth disease and cardiac arrhythmias. Brain Dev  1988;10:262–263. PubMed

Vrtal  J, Plášek  J. Electrical storm in a patient with Charcot–Marie–Tooth disease treated with radiofrequency ablation and subsequent serious complication of ICD implantation. Retrieved October 1, 2024. https://esc365.escardio.org/presentation/287458.2024. PubMed PMC

Eltawansy  SA, Bakos  A, Checton  J. Noncompaction cardiomyopathy with Charcot–Marie–Tooth disease. Case Rep Cardiol  2015;2015:646890. PubMed PMC

Tetzlaff  JE, Schwendt  I. Arrhythmia and Charcot–Marie–Tooth disease during anesthesia. Can J Anaesth  2000;47:829. PubMed

Corrado  G, Checcarelli  N, Santarone  M, Stollberger  C, Finsterer  J. Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot–Marie–Tooth disease Type 1A. Cardiology  2006;105:142–145. PubMed

Benedetti  S, Bertini  E, Iannaccone  S, Angelini  C, Trisciani  M, Toniolo  D, et al.  Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry  2005;76:1019–1021. PubMed PMC

Liang  JJ, Grogan  M, Ackerman  MJ, Goodsell  K. LMNA-mediated arrhythmogenic right ventricular cardiomyopathy and Charcot–Marie–Tooth Type 2B1: a patient-discovered unifying diagnosis. J Cardiovasc Electrophysiol  2016;27:868–871. PubMed

Yerabandi  N, Kouznetsova  VL, Kesari  S, Tsigelny  IF. The role of BAG3 in dilated cardiomyopathy and its association with Charcot–Marie–Tooth disease Type 2. Acta Myol  2022;41:59–75. PubMed PMC

Zeppenfeld  K, Tfelt-Hansen  J, de Riva  M, Winkel  BG, Behr  ER, Blom  NA, et al.  2022 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J  2022;43:3997–4126. PubMed

Electrical storm in a patient with Charcot-Marie-Tooth disease treated with radiofrequency ablation and subsequent serious complication of implantable cardioverter defibrillator implantation: a case report