Learning from studying very rare cardiac conditions: the example of short QT syndrome | Journal of Congenital Cardiology | Full Text

Learning from studying very rare cardiac conditions: the example of short QT syndrome | Journal of Congenital Cardiology | Full Text

© Hancox et al., 2019

Featured review: Learning from studying very rare cardiac conditions: the example of short QT syndrome

In this review, Hancox et al. make an imperative case to study rare conditions such as short QT syndrome (SQTS), a condition with rare genetic forms that may be underdiagnosed and carrying the risk of sudden death. The detailed study of SQTS is both directly beneficial for the treatment/management of affected patients and for increasing the understanding of associated underlying cardiac physiology and pharmacology. The pursuit of underlying gene mutations can lead to unanticipated new links between particular genes and cardiac electrophysiology, opening new avenues for research and potential therapeutic intervention.