Genetic testing in survivors of sudden cardiac arrest (SCA) with a suspicious cardiac
phenotype is considered clinically useful, whereas its value in the absence of phenotype
is disputed. We aimed to evaluate the clinical utility of genetic testing in survivors
of SCA with or without cardiac phenotype. Sixty unrelated SCA survivors (median age:
34 [interquartile range 20 to 43] years, 82% male) without coronary artery disease
were included: 24 (40%) with detectable cardiac phenotype (Ph(+)SCA) after the SCA
event and 36 (60%) with no clear cardiac phenotype (Ph(−)SCA). The targeted exome
sequencing was performed using the TruSight-One Sequencing Panel (Illumina). Variants
in 185 clinically relevant cardiac genes with minor allele frequency <1% were analyzed.
A total of 32 pathogenic or likely pathogenic variants were found in 27 (45%) patients:
17 (71%) in the Ph(+)SCA group and 10 (28%) in the Ph(−)SCA group. Sixteen (67%) Ph(+)SCA
patients hosted mutations congruent with the suspected phenotype, in which 12 (50%)
were cardiomyopathies and 4 (17%) channelopathies. In Ph(−)SCA cases, 6 (17%) carried
a mutation in cardiac ion channel genes that could explain the event. The additional
4 (11%) mutations in this group, could not explain the phenotype and require additional
studies. In conclusion, cardiac genetic testing was positive in nearly 2/3 patients
of the Ph(+)SCA group and in 1/6 of the Ph(–)SCA group. The test was useful in both
groups to identify or confirm an inherited heart disease, with an important impact
on the patient care and first-degree relatives at risk.
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Article info
Publication history
Published online: March 18, 2019
Received in revised form:
February 17,
2019
Received:
December 17,
2018
Footnotes
Funding: B.A. received a Swiss Government Excellence Scholarship for Doctoral Studies (ref No 2015.0138). This study was funded by the Swiss Heart Foundation through a research grant to AMD.
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