Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant

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Authors

SYNKOVÁ Iva VALÁŠKOVÁ Iveta GAILLYOVÁ Renata NOVOTNÝ Tomáš BÉBAROVÁ Markéta ANDRŠOVÁ Irena FLORIANOVA A. VÍT Pavel NAVRATIL R.

Year of publication 2019
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description Long QT syndrome (LQTS) is a hereditary arrhythmic syndrome characterized by abnormal prolongation of QT interval, increased risk of ventricular arrhythmias, and sudden death. It is the most often diagnosed hereditary arrhythmic disorder with prevalence 1:2000. The KCNQ1 gene is one of the 3 major genes (KCNQ1, KCNH2 and SCN5A) which account for 75 % of the genetically identified LQTS cases. The same KCNQ1 mutation c.926C>T (p.T309I) was identified in 10 putatively unrelated families.
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