Unexpected sudden deaths should be investigated with a general autopsy, toxicology, and cardiac pathology (where possible). |
|
6
,
412
|
If a sudden death is likely to be due to a cardiac genetic cause, or remains unexplained after pathological evaluation, EDTA blood, and/or fresh tissue (e.g. liver or spleen) should be retained for potential genetic analysis. Other sources of DNA such as blood spots and tissue stored in suitable media at room temperature may suffice. |
|
15
,
413, 414, 415, 416
|
When a SCD could be attributable to a likely genetic cause, post‐mortem genetic testing in the deceased individual targeted to the likely cause should be performed. |
|
414
, expert opinion |
When a SCD remains unexplained despite an autopsy and toxicology, post‐mortem genetic testing in the deceased individual targeted to channelopathy genes should be performed when the circumstances and/or family history support a primary electrical disease. |
|
15
,
415
,
416
|
When a SCD <50 years old remains unexplained despite an autopsy, toxicology and channelopathy gene panel testing, post‐mortem genetic testing in the deceased individual may be extended to a wider panel including cardiomyopathy genes. |
|
15
,
415
,
416
|
In a decedent with unexplained SCD or an UCA survivor, hypothesis‐free (post‐mortem) genetic testing using exome or genome sequencing should not be performed. |
|
Expert opinion |
In selected UCA survivors with idiopathic VF, genetic testing for founder variants,a where relevant, should be considered. |
|
417
|
In UCA survivors, genetic testing of channelopathy and cardiomyopathy genes may be considered. |
|
418, 419, 420, 421
|
In relatives of UCA survivors or SCD decedents in whom a pathogenic variant has been identified, predictive genetic testing should be performed. |
|
413
,
422
|
In relatives of UCA survivors or SCD decedents, clinical evaluation of 1st degree family members should be performed, and targeted to the index case’s phenotype if present. |
|
422, 423, 424, 425, 426, 427
|
In decedents with SCD or survivors with cardiac arrest in whom a non‐genetic cause has been identified, genetic testing of the index case and clinical evaluation of relatives should not be performed. |
|
Expert opinion |