ObjectiveTo describe experience of long QT (LQT) molecular autopsy in sudden infant death syndrome (SIDS).DesignDescriptive audit from two distinct periods: (1) A prospective, population-based series between 2006 and 2008 (‘unselected’). (2) Before and after 2006–2008, with testing guided by a cardiac genetic service (‘selected’). LQT genes 1, 2, 3, 5, 6 and 7 were sequenced. Next of kin were offered cardiac evaluation.SettingNew Zealand.Patients102 SIDS cases.InterventionsNil.Main outcome measuresDetection of genetic variants.ResultsMaori 49 (47%), and Pacific island 24 (23%), infants were over-represented. Risk factors were common; bed sharing was reported in 49%. Rare genetic variants were commoner within the selected than unselected populations (5 of 31 infants (16%) vs 3 of 71 infants (4%) p < 0.05). In the selected population two infants had variants of definite or probable pathogenicity (KCNQ1, E146K; KCNH2, R1047L), two had novel variants of possible pathogenicity in SCN5A (I795F, F1522Y) and one had R1193Q in SCN5A, of doubtful pathogenicity. R1193Q was also the only variant in the three cases from the unselected population and occurred as a second variant with R1047L. Engaging families proved challenging. Only 3 of 8 (38%) variant-positive cases and 18 of 94 (19%) of variant-negative families participated in cardiac/genetic screening.ConclusionsLQT molecular autopsy has a very low diagnostic yield among unselected SIDS cases where risk factors are common. Diagnostic yield can be higher with case selection. Engagement of the family prior to genetic testing is essential to counsel for the possible uncertainty of the results and to permit family genotype-phenotype cosegregation studies.

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Genotype and PhenotypeThe 3 most prevalent phenotypes for LQTS are well described in Registries. 22,23 Patients with LQT 1 (KCNQ1) typically have events triggered by sport and swimming, and tend to occur in (Circ Arrhythm Electrophysiol. 2016;9:e003859.

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New psychoactive substances (NPS) are synthetic toxicological agents that mimic the effects of existing drugs of abuse (DOA), ABSTRACTS S9