Table 3

Embedded ImageComparison of whole-exome genetic study results for sudden unexplained death or SCA after 2016

AuthorsCountryPatient groupNumberAge (years)Genetic test methodGenetic test resultTop three genes identified
Studies of survivors of SCA
Giudicessi and Ackerman19 USA1999–2017, survived SCA1801–50+Candidate gene approach—channelopathy genes39.4% pathogenic or likely pathogenic RYR2>SCN5A>KCNH2
Song et al 20 Korean2010–2015, survived SCA198–66100 arrhythmia and cardiomyopathy genes26.3% pathogenic or likely pathogenic, 63.2% VUSTTN>RYR2>MYBPC3
Present studyTaiwan1995–2018, survived SCA351–19384 channelopathy and cardiomyopathy genesIn 25 tested, 88% pathogenic or likely pathogenicRyR2>KCNH2=SCN5A
SUD studies
Shanks et al 25 USA2012–2013, SUD251–4099 channelopathy cardiomyopathy and SUD in epilepsy-susceptibility genes28% pathogenic or likely pathogenic, 36% VUSRyR2>TTN>MYH6
Lin et al 26 USA2001–2014, SUD2960–5589 channelopathy and cardiomyopathy genes4.7% pathogenic or likely pathogenic, 41.9% VUSSCN5A>RyR2>MYBPC3=KCNH2
Lahrouchi et al 27 Europe multicentre1985–2015, SUD3021–6477 genes of inherited cardiac conditions 13% pathogenic or likely pathogenic, 43% VUS RYR2 >KCNH2>KCNQ1=SCN5A
Dewar et al 28 Canada1994–2013, SUD191<538 channelopathy and cardiomyopathy genes, 33 possible candidate genes6.3% pathogenic or likely pathogenic, 26.7% VUSSCN5A>PKP2>MYBPC3
Bagnall et al 9 Australia and New Zealand2010–2012, SCD1981–3559 channelopathy and cardiomyopathy genesIn 131 SUCD tested, 27% pathogenic or likely pathogenic RYR2 >SCN5A>DSP
Anderson et al 10 19 20 USA1998–2010, exertion related SUD321–19100 channelopathy and cardiomyopathy genes44% pathogenic or likely pathogenic, 26.7% VUS RYR2 >KCNQ1>CALM2
  • SCA, sudden cardiac arrest; SUCD, sudden unexplained cardiac death; SUD, sudden unexplained death.