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A Cardiomyopathy to Remember: A Case Report of Desmoplakin Cardiomyopathy

Tarek Mahdy1, Salaheldin Agamy1, Mahmoud Khedr1

  • 1University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.

European Journal of Case Reports in Internal Medicine
|June 10, 2026
PubMed

Insights

Desmoplakin (DSP) cardiomyopathy, a cause of recurrent myocardial infarction with no obstructive coronary artery disease, is suspected with left ventricular fibrosis and arrhythmias. Cardiac MRI aids diagnosis, and primary prevention for ventricular arrhythmias is recommended.

Area of Science:

  • Cardiology
  • Genetics
  • Cardiovascular Imaging

Background:

  • Arrhythmogenic cardiomyopathies are an under-investigated cause of myocardial infarction with no obstructive coronary artery disease (MINOCA).
  • Desmoplakin (DSP) gene variants are implicated in specific cardiomyopathies.

Purpose of the Study:

  • To highlight the diagnostic considerations for desmoplakin cardiomyopathy in patients presenting with recurrent MINOCA.
  • To emphasize the role of advanced cardiac imaging and genetic testing in diagnosing DSP cardiomyopathy.

Main Methods:

  • Case presentation of a 56-year-old male with recurrent MINOCA.
  • Transthoracic echocardiography and cardiac magnetic resonance imaging (CMR) for left ventricular function and fibrosis assessment.
  • Genetic testing for desmoplakin (DSP) gene variants.

Main Results:

  • The patient experienced recurrent MINOCA with decreased left ventricle function.
  • CMR revealed a distinct pattern of myocardial fibrosis.
  • Genetic analysis identified a pathological variant in the DSP gene.
  • The patient received primary prevention with an implantable cardioverter-defibrillator.

Conclusions:

  • Recurrent MINOCA, left ventricular fibrosis, and premature ventricular contractions should prompt suspicion for DSP cardiomyopathy.
  • CMR is the gold standard for diagnosing myocardial fibrosis in this context.
  • While risk stratification lacks consensus, primary prevention of ventricular arrhythmias is crucial.
Abstract

Keywords:
CardiomyopathyMINOCAcase reportdesmoplakingenetic

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