A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome

IMPORTANCE: Sudden death and cardiac arrest frequently occur without explanation, even after a thorough clinical evaluation. Calcium release deficiency syndrome (CRDS), a life-threatening genetic arrhythmia syndrome, is undetectable with standard testing and leads to unexplained cardiac arrest. OBJE...

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Veröffentlicht in:	JAMA : the journal of the American Medical Association 2024-07, Vol.332 (3), p.204-213
Hauptverfasser:	Ni, Mingke, Dadon, Ziv, Ormerod, Julian O. M, Saenen, Johan, Hoeksema, Wiert F, Antiperovitch, Pavel, Tadros, Rafik, Christiansen, Morten K, Steinberg, Christian, Arnaud, Marine, Tian, Shanshan, Sun, Bo, Estillore, John Paul, Wang, Ruiwu, Khan, Habib R, Roston, Thomas M, Mazzanti, Andrea, Giudicessi, John R, Siontis, Konstantinos C, Alak, Aiman, Acosta, J. Gabriel, Divakara Menon, Syamkumar M, Tan, Nigel S, van der Werf, Christian, Nazer, Babak, Vivekanantham, Hari, Pandya, Tanvi, Cunningham, Jennifer, Gula, Lorne J, Wong, Jorge A, Amit, Guy, Scheinman, Melvin M, Krahn, Andrew D, Ackerman, Michael J, Priori, Silvia G, Gollob, Michael H, Healey, Jeff S, Sacher, Frederic, Nof, Eyal, Glikson, Michael, Wilde, Arthur A. M, Watkins, Hugh, Jensen, Henrik K, Postema, Pieter G, Belhassen, Bernard, Chen, S. R. Wayne, Roberts, Jason D
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Animals Arrhythmias, Cardiac - diagnosis Arrhythmias, Cardiac - etiology Calcium - blood Calcium - metabolism Case-Control Studies Disease Models, Animal Electrocardiography Female Heart Arrest - diagnosis Heart Arrest - etiology Humans Male Mice Middle Aged Online First Preliminary Communication Ryanodine Receptor Calcium Release Channel - genetics Tachycardia, Supraventricular - diagnosis Tachycardia, Supraventricular - etiology Tachycardia, Supraventricular - physiopathology Tachycardia, Ventricular - diagnosis Tachycardia, Ventricular - etiology Tachycardia, Ventricular - physiopathology Young Adult
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