Identification of a novel NKX2-5 variant in a young Ecuadorian patient with atrioventricular block and bradycardia: a case report
Frontiers in Cardiovascular Medicine
APRIL 3, 2025
Notably, the transcription factor NKX2-5 plays a crucial role in heart development and function, and mutations in this gene have been linked to bradycardia and AV block. This article describes the case report of a young Ecuadorian child diagnosed with AV block and bradycardia. Furthermore, by performing NGS, a missense variant, p.(Tyr274Ser)
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