Desmoplakin cardiomyopathy: case report

Abstract

Background: Desmoplakin (DSP) cardiomyopathy is a distinct form of cardiomyopathy characterized by frequent left ventricular involvement with extensive fibrosis, high arrhythmic risk, and episodes of acute myocardial injury.

Case summary: We are reporting diagnosis and management of a rare case of DSP cardiomyopathy. A patient in his 70s was investigated for mild shortness of breath, recurrent chest infection, and multiple ventricular ectopic. His echocardiogram showed impaired systolic function and found to have 53% ectopic burden with run of non-sustained ventricular tachycardia on 24 h electrocardiogram. Cardiac magnetic resonance imaging showed findings highly suggestive of DSP cardiomyopathy. High-resolution computed tomography chest suggested connective tissue-related interstitial lung disease. The diagnosis of DSP cardiomyopathy was confirmed by genetic testing that demonstrated mutation in DSP protein. The patient had implantable cardioverter-defibrillator implantation for primary prevention.

Discussion: Implantable cardioverter-defibrillator implantation should be considered with left ventricular ejection fraction thresholds >35%, particularly in the presence of additional risk factors.

Keywords: Case report; DSP; Desmoplakin cardiomyopathy.

Figure 1

Episode of broad complex tachycardia (arrow) lasting 8 beats at 187 b.p.m. triggered by R on T on Holter electrocardiogram monitor.

Figure 2

Cardiac magnetic resonance imaging showing multiple areas of late gadolinium enhancement seen at the mid–interventricular septum, sub-epicardium mid-wall of the lateral wall with focal thinning of the mid-lateral wall (arrows).

Figure 3

High-resolution chest computed tomography showing nonspecific interstitial pneumonia pattern of interstitial lung disease commonly related to connective tissue diseases.

Figure 4

Episode of non-sustained ventricular tachycardia detected by the implantable cardioverter-defibrillator device.