A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease


TÜRKMEN H., UYSAL F., Bostan O. M.

CARDIOLOGY IN THE YOUNG, vol.33, no.8, pp.1448-1450, 2023 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 8
  • Publication Date: 2023
  • Doi Number: 10.1017/s1047951122004164
  • Journal Name: CARDIOLOGY IN THE YOUNG
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.1448-1450
  • Keywords: Danon Disease, hypertrophic cardiomyopathy, pre-excitation, heart failure
  • Bursa Uludag University Affiliated: Yes

Abstract

Danon disease is a rare and fatal disease caused by a mutation in the lysosome-associated membrane protein 2 gene. Impaired intracellular autophagy causes lysosomal vacuoles to accumulate mainly in myocardial and skeletal muscle cells, leading to hypertrophic cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability. Two distinct childhood presentations of Danon disease are described in this report.