Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2021 Dec 7;42(46):4756-4758.
doi: 10.1093/eurheartj/ehab668.

Does knowledge of the mutation in hereditary long QT syndrome aid risk stratification?

Andrew Tinker  1
Affiliations
Editorial

Does knowledge of the mutation in hereditary long QT syndrome aid risk stratification?

Andrew Tinker. Eur Heart J. .
No abstract available

PubMed Disclaimer

Figures

None
Long QT syndrome promotes early afterdepolarizations (EADs) with L-type calcium channel reactivation and acts as a substrate for torsade de pointes (blue box). LQT1 is caused by mutations in the KCNQ1 potassium channel which, in complex with KCNE1, underlies the cardiac IKs current (upper panel left). Autosomal dominant disease can occur because of loss of function (upper panel right) or a dominant negative mechanism (lower panel right). Aberrant regulation mediated by protein kinase C or PIP2 may also be a cause of disease, though this is less well defined (bottom panel right). AC, adenylate cyclase; AKAP, a kinase-anchoring protein. The structural images of the effect of PIP2 on KCNQ1 are from Sun and MacKinnon.
See this image and copyright information in PMC

Comment on

References

    1. Harmer SC, Tinker A. The impact of recent advances in genetics in understanding disease mechanisms underlying the long QT syndromes. Biol Chem 2016;397:679–693. - PubMed
    1. Schwartz PJ, Ackerman MJ, Antzelevitch C, Bezzina CR, Borggrefe M, Cuneo BF, Wilde AAM. Inherited cardiac arrhythmias. Nat Rev Dis Primers 2020;6:58. - PMC - PubMed
    1. Schwartz PJ, Moreno C, Kotta M-C, Pedrazzini M, Crotti L, Dagradi F, Castelletti S, Haugaa KH, Denjoy I, Shkolnikova MA, Brink PA, Heradien MJ, Seyen SRM, Spätjensh RLHMG, Spazzolini C, Volders PGA. Mutation location and I Ks regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region. Eur Heart J 2021;42:4743–4755. - PMC - PubMed
    1. Brink PA, Crotti L, Corfield V, Goosen A, Durrheim G, Hedley P, Heradien M, Geldenhuys G, Vanoli E, Bacchini S, Spazzolini C, Lundquist AL, Roden DM, George AL Jr, Schwartz PJ. Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation 2005;112:2602–2610. - PubMed
    1. Abbott GW. KCNQs: ligand- and voltage-gated potassium channels. Front Physiol 2020;11:583. - PMC - PubMed