Comparison of whole-exome genetic study results for sudden unexplained death or SCA after 2016
Authors | Country | Patient group | Number | Age (years) | Genetic test method | Genetic test result | Top three genes identified |
Studies of survivors of SCA | |||||||
Giudicessi and Ackerman19 | USA | 1999–2017, survived SCA | 180 | 1–50+ | Candidate gene approach—channelopathy genes | 39.4% pathogenic or likely pathogenic | RYR2>SCN5A>KCNH2 |
Song et al 20 | Korean | 2010–2015, survived SCA | 19 | 8–66 | 100 arrhythmia and cardiomyopathy genes | 26.3% pathogenic or likely pathogenic, 63.2% VUS | TTN>RYR2>MYBPC3 |
Present study | Taiwan | 1995–2018, survived SCA | 35 | 1–19 | 384 channelopathy and cardiomyopathy genes | In 25 tested, 88% pathogenic or likely pathogenic | RyR2>KCNH2=SCN5A |
SUD studies | |||||||
Shanks et al 25 | USA | 2012–2013, SUD | 25 | 1–40 | 99 channelopathy cardiomyopathy and SUD in epilepsy-susceptibility genes | 28% pathogenic or likely pathogenic, 36% VUS | RyR2>TTN>MYH6 |
Lin et al 26 | USA | 2001–2014, SUD | 296 | 0–55 | 89 channelopathy and cardiomyopathy genes | 4.7% pathogenic or likely pathogenic, 41.9% VUS | SCN5A>RyR2>MYBPC3=KCNH2 |
Lahrouchi et al 27 | Europe multicentre | 1985–2015, SUD | 302 | 1–64 | 77 genes of inherited cardiac conditions | 13% pathogenic or likely pathogenic, 43% VUS | RYR2 >KCNH2>KCNQ1=SCN5A |
Dewar et al 28 | Canada | 1994–2013, SUD | 191 | <5 | 38 channelopathy and cardiomyopathy genes, 33 possible candidate genes | 6.3% pathogenic or likely pathogenic, 26.7% VUS | SCN5A>PKP2>MYBPC3 |
Bagnall et al 9 | Australia and New Zealand | 2010–2012, SCD | 198 | 1–35 | 59 channelopathy and cardiomyopathy genes | In 131 SUCD tested, 27% pathogenic or likely pathogenic | RYR2 >SCN5A>DSP |
Anderson et al 10 19 20 | USA | 1998–2010, exertion related SUD | 32 | 1–19 | 100 channelopathy and cardiomyopathy genes | 44% pathogenic or likely pathogenic, 26.7% VUS | RYR2 >KCNQ1>CALM2 |
SCA, sudden cardiac arrest; SUCD, sudden unexplained cardiac death; SUD, sudden unexplained death.