Kasak L, Rull K, Yang T, et al. - A potential novel cause for recurrent fetal loss is concealed maternal type 1 long‐QT syndrome.

• Recurrent pregnancy loss impacts 1% to 2% of couples trying for childbirth.

• A nonconsanguineous Estonian family with 5 live births, intersected by 3 early pregnancy losses, and 6 fetal deaths, 3 of which happened during the second trimester, was investigated.

• Autopsy of 3 of 6 cases of fetal death revealed absence of fetal malformations.

• Presence of a heterozygous nonsynonymous variant, leading to p.Val173Asp (rs199472695) in the ion channel gene KCNQ1, was detected in the mother and 2 pregnancy losses.

• It’s expression was evident in heart, where mutations result in type 1 long‐QT syndrome, as well as in other tissues, including uterus.

• According to in vitro electrophysiological studies, dysfunction and marked attenuation of the I ^Ks channel (voltage‐gated K+ channel) resulted due to the KCNQ1 p.V173D (c.518T>A) variant.