Left-Dominant Arrhythmogenic Cardiomyopathy, Palmoplantar Keratoderma, and Curly Hair Associated With a Rare Autosomal Dominant Truncating Variant in Desmoplakin

Circ Genom Precis Med. 2020 Oct;13(5):557-559. doi: 10.1161/CIRCGEN.120.003017. Epub 2020 Aug 13.
No abstract available

Keywords: cardiomyopathy; desmoplakin; dilation; gadolinium; genetic testing.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomyopathy, Dilated / diagnosis
  • Cardiomyopathy, Dilated / genetics*
  • Desmoplakins / genetics*
  • Echocardiography
  • Female
  • Heterozygote
  • Humans
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / genetics*
  • Middle Aged
  • Pedigree
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Ventricular Function, Left / physiology*

Substances

  • Desmoplakins