Cardiac features in a patient with erythrokeratodermia cardiomyopathy syndrome

Cardiol Young. 2022 Jun;32(6):993-995. doi: 10.1017/S1047951121004108. Epub 2021 Oct 11.

Abstract

Patients with erythrokeratodermia cardiomyopathy syndrome exhibit congenital, generalised erythrokeratoderma and dilated cardiomyopathy during early childhood. We report a case of erythrokeratodermia cardiomyopathy syndrome in a 15-year-old male patient and focus this report on cardiac features that were present.

Keywords: DSP; Desmoplakin; erythrokeratodermia cardiomyopathy syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cardiomyopathies* / complications
  • Cardiomyopathies* / diagnosis
  • Cardiomyopathy, Dilated* / complications
  • Cardiomyopathy, Dilated* / diagnosis
  • Child, Preschool
  • Desmoplakins
  • Humans
  • Male
  • Syndrome

Substances

  • Desmoplakins