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letter
. 2022 May 31;38(4):491–553. doi: 10.1002/joa3.12717
Recommendations Consensus statement instruction Ref.
Unexpected sudden deaths should be investigated with a general autopsy, toxicology, and cardiac pathology (where possible). graphic file with name JOA3-38-491-g003.jpg 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. graphic file with name JOA3-38-491-g003.jpg 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. graphic file with name JOA3-38-491-g003.jpg 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. graphic file with name JOA3-38-491-g003.jpg 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. graphic file with name JOA3-38-491-g008.jpg 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. graphic file with name JOA3-38-491-g010.jpg Expert opinion
In selected UCA survivors with idiopathic VF, genetic testing for founder variants,a where relevant, should be considered. graphic file with name JOA3-38-491-g003.jpg 417
In UCA survivors, genetic testing of channelopathy and cardiomyopathy genes may be considered. graphic file with name JOA3-38-491-g008.jpg 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. graphic file with name JOA3-38-491-g003.jpg 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. graphic file with name JOA3-38-491-g003.jpg 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. graphic file with name JOA3-38-491-g010.jpg Expert opinion