Non-missense variants ofKCNH2show better outcomes in type 2 long QT syndrome

EuropacePublished 2 Mar 2023Cohort study

Cite

Authors' conclusion

Stratification based on molecular biological studies enables us to better predict clinical outcomes in the patients with LQT2.

Study context

Population: LQT2 patients carrying a rare KCNH2 variant from a patient cohort undergoing genetic testing234 probands
Participants: 429 patients

Exposure: KCNH2 non-missense vs missense variants; predicted haploinsufficiency (HI) vs predicted dominant-negative (DN) functional change
Outcome: QTc and arrhythmic events

As reported in the abstract

Functional change an independent risk of arrhythmic events (multivariable Cox model): P = 0.005

Observational data: associations, not effects.

Authors: Aizawa T, Wada Y, Hasegawa K, Huang H, Imamura T, Gao J, et al.
All 16 authors
Aizawa T, Wada Y, Hasegawa K, Huang H, Imamura T, Gao J, Kashiwa A, Kohjitani H, Fukuyama M, Kato K, Kato ET, Hisamatsu T, Ohno S, Makiyama T, Kimura T, Horie M
Journal: EP Europace
Published: 2 Mar 2023
DOI: 10.1093/europace/euac269
PubMed: 36861347

Non-missense: KCNH2 non-missense variants that can result in haploinsufficiency
HI: missense variants previously reported as haploinsufficiency
DN: missense variants previously reported as dominant-negative
Predicted HI (pHI): predicted HI, including non-missense variants

Non-missense variants: shorter QTc and fewer arrhythmic events than missense variants
Non-missense and HI similar phenotypes; both shorter QTc and fewer arrhythmic events than DN

More notes

Non-missense variants ofKCNH2show better outcomes in type 2 long QT syndrome. Europace. Published 2 March 2023. doi:10.1093/europace/euac269

Composed by AI from the published abstract and checked against it. How Briefs are made →