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Updated: Aug 10, 2025

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A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and

Tolga Çimen1, Argelia Medeiros-Domingo2, Antonios Kolios3

  • 1Department of Cardiology, University Heart Center, University Hospital Zurich, 8091 Zurich, Switzerland.

Journal of Clinical Medicine
|February 11, 2023
PubMed

Insights

Cardiocutaneous syndrome (CCS) is a genetic disorder linked to desmoplakin (DSP) gene variants. This case highlights the importance of repeated genetic testing for diagnosing inherited cardiac conditions like CCS.

Area of Science:

  • Cardiology
  • Genetics
  • Dermatology

Background:

  • Cardiocutaneous syndrome (CCS) is an inherited condition characterized by palmoplantar keratoderma and arrhythmogenic cardiomyopathy.
  • Genetic variants in the desmoplakin (DSP) gene are a known cause of CCS.

Observation:

  • A 58-year-old man with a history of cardiomyopathy, recurrent ventricular tachycardia, and palmoplantar keratosis was evaluated.
  • Cardiological assessment revealed biventricular cardiomyopathy.

Findings:

  • Repeated genetic testing identified a novel DSP variant in the patient.
  • This finding confirms a genetic basis for his condition.

Implications:

  • Repeated genetic testing is crucial for diagnosing inherited cardiac diseases, especially when initial molecular screening was limited.
  • This case underscores the clinical utility of re-evaluating genetic testing in patients with suspected inherited cardiac conditions.

Keywords:
arrhythmogenic cardiomyopathycardiocutaneous syndromedesmoplakinrepeat genetic testing

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