Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation.
Mikael KoponenAnnukka MarjamaaAnnukka M TuiskulaMatti ViitasaloTerhi Nallinmaa-LuotoJaakko T LeinonenElisabeth WidenLauri ToivonenKimmo KontulaHeikki SwanPublished in: PloS one (2020)
Previously undiagnosed CPVT patients may be identified by well-conducted genealogical studies. The RYR2 P2328S mutation causes a potentially severe phenotype, but its expression is variable, thus calling for additional studies on modifying factors.