10 research outputs found
THE ROLE OF ADAPTIVE SERVO-VENTILATION IN REDUCING REHOSPITALIZATION FOR ELDERLY PATIENTS WITH HEART FAILURE
Prognostic utility of T-wave alternans in a real-world population of patients with left ventricular dysfunction: the PREVENT-SCD study
Radiation-Induced Cardiomyopathy Incidentally Detected on Oncology <sup>18</sup>F-Fluorodeoxyglucose Positron Emission Tomography
Association Between Right Bundle Branch Block and Impaired Myocardial Tissue-Level Reperfusion in Patients With Acute Myocardial Infarction
THE ROLE OF ADAPTIVE SERVO-VENTILATION IN REDUCING REHOSPITALIZATION FOR ELDERLY PATIENTS WITH HEART FAILURE
THREE-YEAR CLINICAL OUTCOMES WITH SIROLIMUS-ELUTING STENTS FOR DIABETIC PATIENTS FROM J-CYPHER REGISTRY
The Effect of Coronary Vasospasm on the Direction of ST-Segment Deviation in Patients With Both Hypertrophic Cardiomyopathy and Vasospastic Angina
Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene SCN5A
Loss-of-function mutations in the cardiac sodium channel Ī±-subunit gene SCN5A result in multiple inherited arrhythmic syndromes. This case report describes 2 unrelated probands carrying an identical SCN5A frameshift mutation, V1764fsX1786, who exhibited distinct clinical manifestations: progressive cardiac conduction defect (PCCD)/Brugada syndrome (patient #1) and idiopathic ventricular fibrillation (IVF) (patient #2). Using a whole-cell patch clamp technique, cells expressing V1764fsX1786 showed no observable Na+ current. Therefore, a significant phenotypic overlap was found between IVF and PCCD/Brugada syndrome in the 2 probands with the V1764fsX1786, loss-of-function frameshift mutation of the cardiac sodium channel gene SCN5A