Naxos Disease: Current Knowledge and Future Advances

Abstract

Naxos disease is a genetic cardiocutaneous syndrome manifesting with a cardiomyopathy that belongs in the arrhythmogenic right ventricular cardiomyopathy (ARVC) spectrum and follows an autosomal recessive pattern. It manifests with wooly hair, keratosis of the extremities and right ventricular dysfunction. It is accompanied by risk of arrhythmias as well as sudden cardiac death (SCD), even at a young age. Furthermore, the disease often progresses to right ventricular heart failure, but can also affect the left ventricle. Patient management follows current guidelines on ARVC and principles for heart failure management. Bioengineering and research about pluripotent stem cells seem to have potential to improve future management of the disease. This chapter covers current knowledge on Naxos disease regarding clinical features, epidemiology, pathogenesis, guidelines on patient management and provides insights in research frontlines.