ECG Features in ATS Patients With KCNJ2 Mutations

Electrocardiographic Features in Andersen-Tawil Syndrome
Patients With KCNJ2 Mutations

Characteristic T-U–Wave Patterns Predict the KCNJ2 Genotype

Li Zhang, MD; D. Woodrow Benson, MD, PhD; Martin Tristani-Firouzi, MD; Louis J. Ptacek, MD;
Rabi Tawil, MD; Peter J. Schwartz, MD; Alfred L. George, MD; Minoru Horie, MD, PhD;
Gregor Andelfinger, MD; Gregory L. Snow, PhD; Ying-Hui Fu, PhD;
Michael J. Ackerman, MD, PhD; G. Michael Vincent, MD

Background—The ECG features of Andersen-Tawil syndrome (ATS) patients with KCNJ2 mutations (ATS1) have not been systematically assessed. This study aimed to define ECG features of KCNJ2 mutation carriers, to determine whether characteristic T-U–wave patterns exist, and to establish whether T-U patterns predict the ATS1 genotype. Methods and Results—In phase I, evaluation of T-U morphology in ECGs of 39 KCNJ2 mutation carriers identified characteristic T-U patterns: prolonged terminal T downslope, wide T-U junction, and biphasic and enlarged U waves read more or download pdf