Section 1 of 3
Resource utility
Manesha Putra, Bettina F. Cuneo, Congwu Chi, Zhen Zhang, Linnea Prudell, and Kunhua Song · about 1 minutes
A healthy 32-year old woman in her second pregnancy presented at 32 weeks with fetal 2° atrioventricular block, ventricular tachycardia and a fetal heart rate <3rd for gestational age (Putra et al., 2023). There was no family history of inherited arrhythmias and parental ECGs were normal. The assumed diagnosis of fetal long QT syndrome (LQTS) was confirmed by amniocentesis, which revealed a de novo KCNH2 variant, c.1898A > G (p.Asn633Ser). HiPSC lines generated from amniocytes of this fetus and blood cells from her healthy parents could serve as an invaluable resource for in vitro disease modeling of congenital LQTS, candidate drug testing, and the development of personalized therapeutic plans.