Objectives To study the phenotype of a China LQT family and investigate the relationship of phenotype and gene. Methods The clinical materials were analyzed and gene mutations were screened by sequencing. Results A di...Objectives To study the phenotype of a China LQT family and investigate the relationship of phenotype and gene. Methods The clinical materials were analyzed and gene mutations were screened by sequencing. Results A distinctive biphasic T wave pattern was shown in the left precordial leads of all patients. The LQT2 related HERG gene Ala561Val mutation was found. Conclusions A prolonged QT interval accompanied biphasic T wave indicates HERG mutation.展开更多
Long QT syndrome (LQT) is a disease of cardiac repolarization caused by alterations in the transmembrane potassium and sodium currents. This results in prolongation of the QT interval on electrocardiography (EKG) and ...Long QT syndrome (LQT) is a disease of cardiac repolarization caused by alterations in the transmembrane potassium and sodium currents. This results in prolongation of the QT interval on electrocardiography (EKG) and can result in torsade de pointes and sudden cardiac death. We present a case of a patient who has Anderson Tawil syndrome;a congenital long QT syndrome, with a history of cardiac arrhythmias who developed acute paranoid schizophrenia that was refractory to treatment with non-QT-prolonging drugs and required institution of neuroleptics to control her psychiatric symptoms.展开更多
文摘Objectives To study the phenotype of a China LQT family and investigate the relationship of phenotype and gene. Methods The clinical materials were analyzed and gene mutations were screened by sequencing. Results A distinctive biphasic T wave pattern was shown in the left precordial leads of all patients. The LQT2 related HERG gene Ala561Val mutation was found. Conclusions A prolonged QT interval accompanied biphasic T wave indicates HERG mutation.
文摘Long QT syndrome (LQT) is a disease of cardiac repolarization caused by alterations in the transmembrane potassium and sodium currents. This results in prolongation of the QT interval on electrocardiography (EKG) and can result in torsade de pointes and sudden cardiac death. We present a case of a patient who has Anderson Tawil syndrome;a congenital long QT syndrome, with a history of cardiac arrhythmias who developed acute paranoid schizophrenia that was refractory to treatment with non-QT-prolonging drugs and required institution of neuroleptics to control her psychiatric symptoms.