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Left-dominant arrhythmogenic cardiomyopathy due to desmoplakin mutation: a case report

Gustavo A Lemus Barrios1,2, Jose P Lopez-Lopez1,2, Stephany Barbosa-Balaguera1,2

  • 1Cardiology Unit, Hospital Universitario San Ignacio, Bogotá, Colombia.

ESC Heart Failure
|August 26, 2023
PubMed

Insights

A rare genetic mutation in the desmoplakin (DSP) gene caused arrhythmogenic cardiomyopathy in a patient presenting with acute heart failure. Genetic testing is crucial for diagnosing DSP-related heart conditions when other causes are ruled out.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Dilated cardiomyopathy presents with reduced left ventricular ejection fraction, requiring thorough etiological investigation.
  • Differential diagnosis for heart failure includes hypertensive, ischemic, and valvular causes, which were excluded in this case.

Observation:

  • Cardiac magnetic resonance imaging revealed global hypokinesis and subepicardial fibrosis.
  • Exclusion of common causes of subepicardial fibrosis such as myocarditis, sarcoidosis, and Chagas disease was performed.

Findings:

  • Genetic analysis identified a heterozygous mutation in the desmoplakin (DSP) gene (c.6697_6698del).
  • This mutation led to a diagnosis of left-dominant DSP arrhythmogenic cardiomyopathy, characterized by structural myocardial abnormalities and ventricular arrhythmias.

Implications:

  • Desmoplakin (DSP) gene mutations are implicated in up to 50% of arrhythmogenic cardiomyopathy cases.
  • Genetic testing for DSP mutations should be considered in patients with unexplained dilated cardiomyopathy, especially when other common etiologies are ruled out.

Keywords:
Case reportGenetic testingHeterozygous desmoplakin gene mutationInflammatory dilated cardiomyopathyLeft-dominant arrhythmogenic cardiomyopathy

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