Desmoplakin cardiomyopathy—an inherited cardiomyopathy presenting with recurrent episodes of acute myocardial injury

S. A.C. Schoonvelde*, A. Hirsch, S. C. Yap, J. M.A. Verhagen, M. A. van Slegtenhorst, D. Segers, J. E. van Loon, M. Michels

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

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.

Original languageEnglish
JournalNetherlands Heart Journal
DOIs
Publication statusE-pub ahead of print - 26 Nov 2022

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© 2022, The Author(s).

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