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THURSDAY, March 15, 2018 (HealthDay News) — Genetic heart diseases (GHDs) cause fewer cases of sudden infant death syndrome (SIDS) than previously thought, according to a study published in the March 20 issue of the Journal of the American College of Cardiology<\/i>.<\/p>\n
David J. Tester, from the Mayo Clinic in Rochester, Minn., and colleagues conducted whole exome sequencing and targeted analysis of 90 GHD-susceptibility genes in a cohort of 419 unrelated SIDS cases (257 male; average age 2.7 months).<\/p>\n
The researchers found that 53 SIDS cases (12.6 percent) had at least one “potentially informative” GHD-associated variant. For mixed-European ancestry cases, the yield was 14.9 percent (21 of 141), and for European ancestry SIDS cases it was 11.5 percent (32 of 278). A potentially informative GHD-associated variant was more likely in infants older than 4 months. When combining all four major cardiac channelopathy genes (KCNQ1<\/i>, KCNH2<\/i>, SCN5A<\/i>, and RYR2<\/i>), ultra-rare, nonsynonymous variants were significantly overrepresented in European SIDS cases versus European control subjects (P = 0.013). Only 4.3 percent of SIDS cases hosted a “pathogenic” or “likely pathogenic” variant, as defined by guidelines from the American College of Medical Genetics.<\/p>\n
“Consistent with previous studies, ultra-rare, nonsynonymous variants within the major cardiac channelopathy-associated genes were overrepresented in SIDS cases in infants of European ethnicity,” the authors write. “These findings have major implications for the investigation of SIDS cases and families.”<\/p>\n
Several authors disclosed financial ties to the pharmaceutical and medical device industries.<\/p>\n
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