Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death
University of Cologne · University of Utah · +5 more institutions
Abstract
BACKGROUND: Cardiac ion channelopathies are responsible for an ever-increasing number and diversity of familial cardiac arrhythmia syndromes. We describe a new clinical entity that consists of an ST-segment elevation in the right precordial ECG leads, a shorter-than-normal QT interval, and a history of sudden cardiac death. METHODS AND RESULTS: Eighty-two consecutive probands with Brugada syndrome were screened for ion channel gene mutations with direct sequencing. Site-directed mutagenesis was performed, and CHO-K1 cells were cotransfected with cDNAs encoding wild-type or mutant CACNB2b (Ca(v beta2b)), CACNA2D1 (Ca(v alpha2delta1)), and CACNA1C tagged with enhanced yellow fluorescent protein (Ca(v)1.2).…
Citation impact
- FWCI
- 47.87
- Percentile
- 100%
- References
- 37
Authors
23- CACharles AntzelevitchCorresponding
University of Cologne, University of Utah, Heidelberg University, University Hospital Heidelberg, Ophthalmic Consultants of Long Island, Hôpital Cardiologique du Haut-Lévêque, University Medical Centre Mannheim
- GDGuido D. Pollevick
University of Cologne, University of Utah, Heidelberg University, University Hospital Heidelberg, Ophthalmic Consultants of Long Island, Hôpital Cardiologique du Haut-Lévêque, University Medical Centre Mannheim
- JMJonathan M. Cordeiro
University of Cologne, University of Utah, Heidelberg University, University Hospital Heidelberg, Ophthalmic Consultants of Long Island, Hôpital Cardiologique du Haut-Lévêque, University Medical Centre Mannheim
- ÓCÓscar Casis
University of Cologne, University of Utah, Heidelberg University, University Hospital Heidelberg, Ophthalmic Consultants of Long Island, Hôpital Cardiologique du Haut-Lévêque, University Medical Centre Mannheim
- MCMichael C. Sanguinetti
University of Cologne, University of Utah, Heidelberg University, University Hospital Heidelberg, Ophthalmic Consultants of Long Island, Hôpital Cardiologique du Haut-Lévêque, University Medical Centre Mannheim
Topics & keywords
- Medicine
- Sudden cardiac death
- Cardiology
- Internal medicine
- QT interval
- Cardiac function curve
- Long QT syndrome
- Calcium channel
- Good health and well-being