Acute myocardial infarction in desmoplakin cardiomyopathy: beyond a ‘hot phase’

Introduction Desmoplakin (DSP) cardiomyopathy is a rare disease, a particular form of arrhythmogenic cardiomyopathy, with a high risk of life-threatening arrhythmia and heart failure. Case presentation A 53-year-old man presented to the emergency department with palpitations. He had no significant medical history, and his family history was unremarkable. The electrocardiogram revealed ventricular tachycardia with left bundle branch block morphology and inferior axis. Following cardioversion, sinus rhythm revealed first-degree AV block and T wave inversion in precordial leads. Echocardiography revealed biventricular dysfunction and right ventricular (RV) dilation, with impaired RV strain and regional kinesis abnormalities. Coronary angiography was normal. Cardiac magnetic resonance (CMR) showed late-gadolinium enhancement in a ring-like pattern, with septal sparring. Genetic testing was positive for the DSP variant, and the diagnosis of DSP cardiomyopathy was established. An implantable cardioverter-defibrillator was placed in secondary prevention, and subsequently, ventricular tachycardia ablation was performed due to repeated arrhythmia. Three years later, the patient presented with a myocardial infarction without ST elevation. Coronary angiography revealed critical stenosis of the circumflex artery, which was treated by implantation of a drug-eluting stent. Family screening revealed DSP cardiomyopathy in his daughter, who had subclinical findings on CMR. Conclusion While DSP cardiomyopathy is a complex disease and patients can sometimes present with myocarditis-like episodes, coronary angiography should always be performed in a patient presenting with acute coronary syndrome.