Unexplained sudden cardiac death is defined as unexpected cardiac death occurring within one hour of the onset of symptoms in an apparently healthy individual and in whom the cause, despite a complete autopsy, remains unexplained. Even though 80% of deaths of cardiac origin are a consequence of a coronary disease, in a young adult, arrhythmic syndromes with no structural heart defect can often explain a sudden death. Channelopathies are a group of cardiac diseases characterized by a heart whose structure is normal in appearance and that provoke arrhythmia, syncopes and, ultimately, sudden death. The RYR2 (10-15%), KCNQ1 (5-10%), KCNH2 (5%) and SCN5A (3-5%) genes code for the generally responsible ion channels. The percentage indicates the frequency of variants found in these genes. The MHI Molecular Diagnostic Laboratory only reports these genes for the Unexplained Sudden Death profile.
PMID: 21787999, 2011
PMID: 21459272, 2011
PMID: 26566530, 2015
Tested Genes :
|1st intent||2nd intent||3rd intent|