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

Intern Med. 2020 May 15;59(10):1277-1281. doi: 10.2169/internalmedicine.4113-19. Epub 2020 Feb 19.

Abstract

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.

Keywords: Emery-Dreifuss muscular dystrophy; heart transplantation; left ventricular assist device; right ventricular failure.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Heart Failure / etiology*
  • Heart Failure / physiopathology
  • Heart Failure / therapy
  • Humans
  • Lamin Type A / genetics
  • Male
  • Muscular Dystrophy, Emery-Dreifuss / complications*
  • Muscular Dystrophy, Emery-Dreifuss / diagnosis
  • Muscular Dystrophy, Emery-Dreifuss / genetics
  • Muscular Dystrophy, Emery-Dreifuss / therapy
  • Mutation

Substances

  • Lamin Type A