HRCR Rare Diseases Article Collection
- Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome characterized by polymorphic ventricular tachycardia, usually provoked by emotional stress or exercise, in the absence of any structural cardiac abnormality, and in the presence of often normal resting electrocardiogram (ECG).1 It is a highly lethal disease with an overall mortality of 30%–40% if left untreated.2 Studies have shown that almost 35% of affected individuals become symptomatic before the age of 10 and 75% before the age of 20 years.
- Brugada syndrome (BrS) is an inherited disorder usually afflicting patients with otherwise structurally normal hearts. Many triggers have been identified that can result in the phenotypic expression of the higher-risk BrS type 1 pattern. These triggers include but are not limited to fever, heightened vagal tone, and sodium (Na) channel blocking agents. Conversion to the type 1 pattern during exercise is unusual and in fact isoproterenol is a treatment for ventricular tachycardia (VT) storm in Brugada syndrome.