TY - JOUR AU - Yoo, Hyun Sok AU - Medina, Nancy AU - von Wulffen, MarĂ­a Alejandra AU - Ciampi, Natalia AU - Paolucci, Analia AU - Garro, Hugo Ariel AU - Principato, Mario Bruno AU - Acunzo, Rafael Salvador AU - Carbajales, Justo PY - 2021 DA - 2021/01/04 TI - A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2 JO - International Journal of Arrhythmia SP - 1 VL - 22 IS - 1 AB - The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of QT interval and increased risk of sudden cardiac death due to life-threatening ventricular tachyarrhythmias. SN - 2466-1171 UR - https://doi.org/10.1186/s42444-020-00029-1 DO - 10.1186/s42444-020-00029-1 ID - Yoo2021 ER -