Desmoplakin cardiomyopathy: case report.

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.