Key result
Pathogenic variants in the desmoplakin (DSP) gene can cause recurrent episodes of acute myocardial injury mimicking acute coronary syndrome or myocarditis.
Case Report (n=2)
Desmoplakin cardiomyopathy should be considered in the differential diagnosis for patients with unexplained, recurrent myocardial injury mimicking myocarditis, utilizing CMR and genetic testing for confirmation.
DSP variants merit consideration in unexplained recurrent injury; hypothesis-generating case reports leave broader applicability open.
We present two female patients with recurrent episodes of myocardial injury, consisting of acute chest pain and elevated cardiac markers without coronary artery disease. Cardiovascular magnetic resonance imaging identified extensive late gadolinium enhancement suggestive of an inherited cardiomyopathy. Genetic testing showed heterozygous pathogenic variants in the desmoplakin (DSP) gene, the gene coding for the desmoplakin protein, a structural protein found in the cardiac desmosome. Pathogenic variants in the DSP gene are associated with dilated and arrhythmogenic cardiomyopathy. DSP cardiomyopathies may cause recurring myocardial injury mimicking an acute coronary syndrome or myocarditis. Cardiac magnetic resonance imaging is key in its diagnosis due to its specifying imaging features. Genetic testing is essential for the evaluation and confirmation of the diagnosis.
No takes yet. Share an insight, caveat, or question.
Schoonvelde et al. (2022) conducted a case report in Desmoplakin cardiomyopathy (n=2). Desmoplakin (DSP) pathogenic variants was evaluated on Clinical presentation and diagnosis. Pathogenic variants in the desmoplakin (DSP) gene can cause recurrent episodes of acute myocardial injury mimicking acute coronary syndrome or myocarditis.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: