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Review
. 2023 Aug;31(7-8):282-286.
doi: 10.1007/s12471-022-01735-2. Epub 2022 Nov 26.

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

S A C Schoonvelde  1 , A Hirsch  2   3 , S C Yap  2 , J M A Verhagen  4 , M A van Slegtenhorst  4 , D Segers  5 , J E van Loon  6 , M Michels  2
Affiliations
Review

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

S A C Schoonvelde et al. Neth Heart J. 2023 Aug.

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.

Keywords: Desmoplakin; Inherited cardiomyopathy; MINOCA; Non-infectious myocarditis; Recurrent cardiac injury.

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Conflict of interest statement

S.A.C. Schoonvelde, A. Hirsch, S.C. Yap, J.M.A. Verhagen, M.A. van Slegtenhorst, D. Segers, J.E. van Loon and M. Michels declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
12-Lead electrocardiogram made at admission of patient A showing a sinus rhythm of 70 beats per minute, normal heart axis, normal conduction times, low voltage QRS complexes, and subtle inferolateral ST-segment elevations without reciprocal ST depressions
Fig. 2
Fig. 2
Cardiovascular magnetic resonance of patient A: a,b show the 4‑chamber end-diastolic (a) and end-systolic (b) balanced steady-state free precession cine images. Note the involvement of the right ventricle (arrow, b) with regional basal free wall dyskinesia. c shows extensive late gadolinium enhancement (LGE) on the short-axis assessment with involvement of the left and right ventricle. Epicardial LGE (arrows, c) is seen in the lateral and inferior left ventricular segments, and also mid-myocardial LGE in the septum and the right ventricle free wall. A cine movie is available (Video S1 in Electronic Supplementary Material)
Fig. 3
Fig. 3
12-Lead electrocardiogram (a) made at admission of patient B showing a sinus rhythm of 95 beats per minute with a normal heart axis, normal conduction times, poor R‑wave progression, non-specific repolarization abnormalities and small QRS voltages. Cardiovascular magnetic resonance of patient B: b shows extensive ring-like late gadolinium enhancement (LGE) on the short-axial view. c shows the LGE in the 4‑chamber view within the septum and the lateral wall of the left ventricle. A cine movie is available (Video S2 in Electronic Supplementary Material)
See this image and copyright information in PMC

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