Clinical and Molecular Aspects of Naxos Disease

Naxos disease is a recessively inherited pattern of arrhythmogenic cardiomyopathy with palmoplantar keratoderma and woolly hair. The causative mutation identified in plakoglobin protein gene indicated a potential role of the desmosomal protein complex as culprit for cardiomyopathy. In the context of a family, the early evident cutaneous features may serve as a clinical screening tool to spot arrhythmogenic cardiomyopathy in subclinical stage. “Myocarditis-like episodes” may step up the disease evolution or mark a transition from concealed to symptomatic cardiomyopathy phase. Arrhythmogenic cardiomyopathy in Naxos disease shows increased penetrance and phenotypic expression but its arrhythmic risk is analogous to dominant forms.

Source: Heart Failure Clinics - October 21, 2021 Category: Cardiology Authors: Ioannis Protonotarios, Angeliki Asimaki, Zafeirenia Xylouri, Alexandros Protonotarios, Adalena Tsatsopoulou Source Type: research