The de novo p.V141M_KCNQ1 mutation causes a highly specific syndrome characterized by fetal atrial fibrillation, short QT interval, and progressive ventricular dilatation.
Alerts clinicians to monitor LV size in fetal AF/short QT cases; leaves open validation of this genotype-phenotype link.
Short QT syndrome (SQTS) is an inherited, rare, potentially lethal disease characterized by ventricular repolarization alterations, predisposing individuals to atrial fibrillation (AF), syncope, and high incidence of sudden cardiac death (SCD), often during the first years of life.1,2 SQTS was first described in a family in which some members showed an abnormally short QT interval and 1 of them suffered from AF. An additional patient had a short QT interval, recurrent ventricular arrhythmias, and, ultimately, SCD.
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Sarquella‐Brugada et al. (2015) studied this question.
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