Desmoplakin cardiomyopathy: case report

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.

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.

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