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Cardiac features in a patient with erythrokeratodermia cardiomyopathy syndrome

Yasuhiro Ichikawa1, Yuma Shibuya1, Mio Tanaka2

  • 1Department of Cardiology, Kanagawa Children's Medical Center, Yokohama, Japan.

Cardiology in the Young
|October 11, 2021
PubMed

Insights

Erythrokeratodermia cardiomyopathy syndrome presents with skin and heart conditions in children. This case report details the cardiac manifestations in a 15-year-old male patient.

Area of Science:

  • Cardiology
  • Dermatology
  • Genetics

Background:

  • Erythrokeratodermia cardiomyopathy syndrome is a rare genetic disorder.
  • It is characterized by generalized erythrokeratoderma and dilated cardiomyopathy.
  • Symptoms typically manifest in early childhood.

Observation:

  • This report describes a 15-year-old male patient with erythrokeratodermia cardiomyopathy syndrome.
  • The focus is on the cardiac features observed in this adolescent patient.
  • The patient presented with significant cardiac involvement.

Findings:

  • The patient exhibited features consistent with erythrokeratodermia cardiomyopathy syndrome.
  • Detailed cardiac evaluation revealed dilated cardiomyopathy.
  • Specific cardiac anomalies and functional impairments were noted.

Implications:

  • This case expands the understanding of erythrokeratodermia cardiomyopathy syndrome in adolescents.
  • It highlights the importance of cardiac monitoring in affected individuals.
  • Further research into the cardiac pathophysiology of this syndrome is warranted.

Keywords:
DSPDesmoplakinerythrokeratodermia cardiomyopathy syndrome

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