Abstract
van Ouwerkerk et al (Circulation February 3, 2022; https://doi.org/10.1161/CIRCULATIONAHA.121.054347, PMID 35113653) investigated the pathogenic missense variant p.G125R in the TBX5 transcription factor that causes Holt-Oram syndrome (HOS; hand-heart syndrome) and early onset of atrial fibrillation (AF). The TBX5-p.G125R variant was introduced in the mouse genome (Tbx5G125R). The authors observed a high incidence of atrial extrasystoles and atrioventricular conduction disturbances in patients with HOS.
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