A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease

TÜRKMEN H., UYSAL F., Bostan O. M.

CARDIOLOGY IN THE YOUNG, cilt.33, sa.8, ss.1448-1450, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 8
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1017/s1047951122004164
  • Dergi Adı: CARDIOLOGY IN THE YOUNG
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1448-1450
  • Anahtar Kelimeler: Danon Disease, hypertrophic cardiomyopathy, pre-excitation, heart failure
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.