Patient-independent iPS Cells and Modeling Long QT Syndrome

Three key susceptibility genes, KCNQ1, KCHN2, and SCN5A, account for approximately 75% of cases of congenital long QT syndrome (LQTS).1 With advances in DNA sequencing and human genomics, additional susceptibility genes have been identified, and genetic testing for LQTS patients has become standard practice. Genetic testing has empowered the care of patients with LQTS providing guidance for treatment strategies and enabling testing of family members for their carrier status. However, as the technology and scope of genetic analysis has continued to advance with databases containing a tens of thousands of whole exomes and whole genomes, the complexity of interpreting genetic testing results is only beginning to be appreciated.

Source: Heart Rhythm - May 27, 2019 Category: Cardiology Authors: Li Feng, Timothy J. Kamp Source Type: research