Heart transplantation in Danon disease: Long term single centre experience and review of the literature

Eur J Med Genet. 2020 Feb;63(2):103645. doi: 10.1016/j.ejmg.2019.04.002. Epub 2019 Apr 5.

Abstract

Danon disease is characterized by hypertrophic cardiomyopathy, skeletal myopathy, and intellectual disability due to deficiency of the lysosome-associated membrane protein-2 (LAMP-2). Although heart transplantation is considered an option for end stage Danon cardiomyopathy, scarce information is available about long term follow up. We report on long term follow up (14.7 years, IQ range 9-21 years) of 4 patients, transplanted for Danon disease cardiomyopathy, showing two LAMP-2 gene variants, the novel c.815T > C and the previously reported c.294G > A. We have also analysed previous published paper on this topic comparing available data from different follow up. Being a skeletal and cardiac muscle disease, with systemic effects, long term results about HTx are indispensable to justify any treatments in this subset of patients.

Keywords: Danon disease; Heart transplantation; LAMP2 mutation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Follow-Up Studies
  • Glycogen Storage Disease Type IIb / genetics*
  • Glycogen Storage Disease Type IIb / physiopathology
  • Glycogen Storage Disease Type IIb / surgery*
  • Heart Transplantation*
  • Humans
  • Lysosomal-Associated Membrane Protein 2 / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Pedigree

Substances

  • LAMP2 protein, human
  • Lysosomal-Associated Membrane Protein 2