Desmoplakin Cardiomyopathy: Myocarditis-Like Episodes

Area of Science:

• Cardiology
• Genetics
• Cardiovascular Imaging

Background:

• Recurrent chest pain in young adults can be misdiagnosed.
• Myocarditis is a common initial diagnosis for such presentations.

Observation:

• A 21-year-old woman presented with a 3-year history of recurrent chest pain.
• Initial symptoms included elevated troponin and myocardial edema on cardiac MRI, suggestive of myocarditis.
• Serial imaging revealed persistent myocardial scarring without active inflammation despite management.

Findings:

• Genetic testing identified a heterozygous deletion in the desmoplakin (DSP) gene.
• This confirmed the diagnosis of desmoplakin cardiomyopathy.
• Electrocardiogram showed T-wave inversions; a subcutaneous implantable cardioverter-defibrillator (s-ICD) was placed for primary prevention of sudden cardiac death.

Implications:

• Desmoplakin cardiomyopathy should be considered in the differential diagnosis of recurrent myocarditis-like syndromes.
• This is particularly relevant in young patients with non-ischaemic cardiac findings and characteristic imaging features.
• Early diagnosis and risk stratification are crucial for preventing sudden cardiac death in DSP cardiomyopathy.