Naxos Disease: A Comprehensive Review of its Genetic Basis, Pathophysiology and Clinical manifestations

Naxos Disease is a rare and complex genetic disorder inherited in an autosomal recessive pattern, involving major cardiogenetic and dermatologic abnormalities. It was first discovered in the Greek island of Naxos, yet affected families have been also detected in other Aegean islands, Turkey, Israel and Saudi Arabia. Mutations in the plakoglobin and desmoplakin affecting genes lead to defects in desmosomal junctions mainly in tissues that are subject to mechanical stress, such as the myocardium and the epidermis. Organism’s compensation to that specific pathophysiology, is a replacement of the damaged heart-muscle cells by fibro-fatty tissue and regarding the cutaneous tissue, a responsive hyperplastic keratin layer with palmoplantar localization. While dermatological symptoms appear from the first year of life, cardiac manifestations appear by adolescence in various symptoms and echo/ECG signs. Unfortunately, the first indication of the disease may be sudden cardiac death and there is a high risk to end up in heart failure. About the diagnostic approach, a conjunction between Task Force ARVC criteria and cardiac magnetic resonance imaging (CMR) should be taken under consideration and finally as for treatment of the condition besides symptomatic cures studies orient on genetic and molecular solutions.