Brugada syndrome (BrS)

Genetic disorder of abnormal electrical activity within the heart with increased risk of abnormal heart rhythms and sudden cardiac death. History: Brugada syndrome is named after the Spanish cardiologists Pedro and Josep Brugada who described the condition in 1992, although the association between the characteristic ECG pattern and sudden cardiac death had been reported in…

Refsum disease

Refsum disease, also known as “heredopathia atactica polyneuritiformis” is a rare neurological disease characterized biochemically by accumulation of phytanic acid in blood plasma and tissues, including fat and neurons.