Identification of concealed cardiomyopathy using next-generation sequencing-based genetic testing in Korean patients initially diagnosed with idiopathic ventricular fibrillation.
Joo Hee JeongYun Gi KimSuk-Kyu OhHyoung Seok LeeYun Young ChoiKyongjin MinJaemin ShimYae Min ParkJun-Hyung KimYong Seog OhNam-Ho KimHui Nam PakYoung Keun OnHyung-Wook ParkGyo-Seung HwangDae-Kyeong KimYoung Ah ParkHyoung Seob ParkYongkeun ChoSeil OhJong-Il ChoiYoung-Hoon KimPublished in: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology (2023)
Next-generation sequencing-based genetic testing identified pathogenic or likely pathogenic variants in 5.4% of patients initially diagnosed with IVF, suggesting that genetic testing with definite evidence genes of cardiomyopathy may enable molecular diagnosis in a minority of patients with IVF. Further clinical evaluation and follow-up of patients with IVF with positive genotypes are needed to unveil concealed phenotypes, such as the pre-clinical phase of cardiomyopathy.