Isolated left bundle branch block (LBBB) aberrancy is exceedingly rare in the young and its clinical and genetic determinants remain poorly characterized. Furthermore, there is conflicting data on its natural history in the pediatric age group patients. We report the rare phenotype of isolated typical LBBB aberrancy in two healthy children, one of whom carried a likely pathogenic mutation in the coding exon 1 of NKX2-5 (p.Q22R, c.65A > G, rs201442000). Our findings suggest that isolated LBBB aberrancy could be non-progressive in some children, at least in the short term. However, given the paucity of data on this entity, we recommend continued long-term surveillance.
Keywords: NKX2-5 p.Q22R mutation; asymptomatic; conduction abnormality; isolated left bundle branch block (LBBB); pediatric.
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