Cor Vasa 2024, 66(5):525-528 | DOI: 10.33678/cor.2024.033

Time to change the family diagnosis: Arrhythmogenic left ventricular cardiomyopathy

Michaela Veselá^a, Gabriela Dostálová^a, Zuzana Hlubocká^a, Petr Kuchynka^a, Vladimír Tuka^a, Tomáš Kovárník^a, Martin Mašek^b, Aleš Linhart^a

^a 2nd Department of Medicine - Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, the Czech Republic

^b Department of Radiology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, the Czech Republic

Arrhythmogenic cardiomyopathy is an inherited cardiomyopathy characterized by fibrofatty replacement and a high risk of ventricular arrhythmias and sudden cardiac death. This myocardial disorder is typically transmitted through autosomal dominant pattern and caused by pathogenic variants in the desmosomal and extradesmosomal genes. In this case, we are presenting a family with three members who have arrhythmogenic left ventricular cardiomyopathy. The condition was found to be caused by a nonsense mutation (c.1754 T>G (p. Leu585Ter)) in the desmoplakin (DSP) gene. Unfortunately, two of the family members were initially misdiagnosed and treated for coronary artery disease, which was not the correct diagnosis. This case demonstrates the importance of accurate differential diagnosis and the usefulness of magnetic resonance imaging (MRI) in establishing the correct diagnosis of arrhythmogenic cardiomyopathy.

Keywords: Arrhythmogenic cardiomyopathy, Desmoplakin, Late gadolinium enhancement, Misdiagnose, Myocardial infarction with non-obstructive coronary arteries

Received: March 20, 2024; Revised: March 20, 2024; Accepted: April 22, 2024; Prepublished online: June 2, 2012; Published: October 25, 2024  Show citation