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Desmoplakin cardiomyopathy: case report.

Ayman Helal1, Mohamed Alama1, Wael Ali2

  • 1Department of Cardiology, Kettering General Hospital, University Hospitals of Northamptonshire, Rothwell Road, Kettering, NN16 8UZ, UK.

European Heart Journal. Case Reports
|September 6, 2024
PubMed
Summary
This summary is machine-generated.

Desmoplakin (DSP) cardiomyopathy, a rare heart condition, presents with fibrosis and high arrhythmia risk. Early diagnosis and implantable cardioverter-defibrillator implantation are crucial for managing this genetic disorder.

Keywords:
Case reportDSPDesmoplakin cardiomyopathy

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Area of Science:

  • Cardiology
  • Genetics
  • Cardiomyopathy Research

Background:

  • Desmoplakin (DSP) cardiomyopathy is a distinct cardiac condition.
  • Characterized by left ventricular fibrosis, high arrhythmia risk, and myocardial injury.

Observation:

  • A rare case of DSP cardiomyopathy in a patient in his 70s is presented.
  • Symptoms included shortness of breath, chest infections, and ventricular ectopy.
  • Diagnostic tools included echocardiogram, ECG, cardiac MRI, CT chest, and genetic testing.

Findings:

  • Echocardiogram revealed impaired systolic function with significant ectopic burden and non-sustained ventricular tachycardia.
  • Cardiac MRI findings were highly suggestive of DSP cardiomyopathy.
  • Genetic testing confirmed a mutation in the DSP protein, diagnosing DSP cardiomyopathy.

Implications:

  • Implantable cardioverter-defibrillator (ICD) implantation is recommended for primary prevention.
  • Consider ICDs in patients with left ventricular ejection fraction >35% and additional risk factors.
  • This case highlights the importance of genetic testing in diagnosing rare cardiomyopathies.