Naxos disease is a rare autosomal recessive disorder characterized by a combination of heart and skin abnormalities.
It is a form of arrhythmogenic right ventricular cardiomyopathy (ARVC) with distinctive cutaneous features.
Its Key Features: Arrhythmogenic right ventricular cardiomyopathy (ARVC), which can lead to arrhythmias, syncope, sustained ventricular tachycardia, and risk of sudden cardiac death, typically manifesting in adolescence or early adulthood.
Disease progression involves right ventricular dysfunction and may eventually affect the left ventricle.
Cutaneous symptoms with woolly hair, present from birth and palmoplantar keratoderma (thickening of the skin on the palms and soles), developing within the first year of life.
Autosomal recessive with mutations in genes encoding desmosomal proteins, especially plakoglobin (JUP) and desmoplakin (DSP), disrupt cell adhesion and lead to the disease.
Prevalence is higher in certain isolated populations, such as up to 1 in 1,000 in the Greek islands.
Diagnosis
Based on clinical findings: woolly hair from infancy, palmoplantar keratoderma, and cardiac abnormalities consistent with arrhythrogenic myocardopathy.
Genetic testing confirms the diagnosis by identifying pathogenic variants, typically in the JUP gene.
Management-Cardiac monitoring for arrhythmias and heart function.
Treatment: Antiarrhythmic drugs for ventricular tachycardia Implantable cardioverter-defibrillator (ICD) for prevention of sudden cardiac death Standard heart failure therapy as needed Heart transplantation in end-stage cases. Genetic Counseling: Recommended for at-risk families due to the autosomal recessive inheritance.
Patients are at increased risk for life-threatening arrhythmias and heart failure, especially during adolescence and young adulthood.