Naxos Disease
Definition:

Naxos Disease is an autosomal recessive modification of Arrhythmogenic right ventricular dysplasia (ARVD, also known as Arrhythmogenic right ventricular cardiomyopathy or ARVC). It is a very rare syndrome characterized primarily by the heart disease and wooly hair.


Diagnosis:

In order to make the diagnosis of Naxos Disease being a variant of ARVD includes the following: * Right Ventricular Angiography, which is considered to be the gold standard in the diagnosis of all ARVD. * Electrocardiogram (EKG or ECG), which has the ability to record the electrical activity of the heart overtime. * Echocardiography is also called as the ultrasound of the heart. * Cardiac MRI


Treatment:

Treatment of Naxos Disease is achieved through antiarrhythmic drugs and heart transplants.


Symptoms and Signs:

The symptoms of Naxos Disease are more critical and severe compared to autosomal dominant Arrhythmogenic right ventricular dysplasia (ARVD). The following are some of the symptoms of this disorder: * Heart disease * Wooly hair * Thickened skin on soles * Thickened skin on palms * Fainting * Ventricular tachycardia * Rough hair * Dry hair * Bristly hair


Causes:

Being a variant of ARVD, the real cause of Naxos Disease is still unknown; however there are two pathological patterns seen in Arrhythmogenic Right Ventricular Dysplasia (ARVD), fatty infiltration involving a partial or near completion of myocardium with fatty tissue without wall thinning and fibro-fatty infiltration, which involves replacement of myocytes with fibrofatty tissue.