Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome

Kaizer, Alexander M and Winbo, Annika and Clur, Sally-Ann B and Etheridge, Susan P and Ackerman, Michael J and Horigome, Hitoshi and Herberg, Ulrike and Dagradi, Federica and Spazzolini, Carla and Killen, Stacy A S and Wacker-Gussmann, Annette and Wilde, Arthur A M and Sinkovskaya, Elena and Abuhamad, Alfred and Torchio, Margherita and Ng, Chai-Ann and Rydberg, Annika and Schwartz, Peter J and Cuneo, Bettina F (2023) Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome. Europace, 25 (11). ISSN 1099-5129

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Link to published document: http://doi.org/10.1093/europace/euad319


AIMS: In long QT syndrome (LQTS), primary prevention improves outcome; thus, early identification is key. The most common LQTS phenotype is a foetal heart rate (FHR) < 3rd percentile for gestational age (GA) but the effects of cohort, genotype, variant, and maternal beta-blocker therapy on FHR are unknown. We assessed the influence of these factors on FHR in pregnancies with familial LQTS and developed a FHR/GA threshold for LQTS. METHODS AND RESULTS: In an international cohort of pregnancies in which one parent had LQTS, LQTS genotype, familial variant, and maternal beta-blocker effects on FHR were assessed. We developed a testing algorithm for LQTS using FHR and GA as continuous predictors. Data included 1966 FHRs at 7-42 weeks' GA from 267 pregnancies/164 LQTS families [220 LQTS type 1 (LQT1), 35 LQTS type 2 (LQT2), and 12 LQTS type 3 (LQT3)]. The FHRs were significantly lower in LQT1 and LQT2 but not LQT3 or LQTS negative. The LQT1 variants with non-nonsense and severe function loss (current density or beta-adrenergic response) had lower FHR. Maternal beta-blockers potentiated bradycardia in LQT1 and LQT2 but did not affect FHR in LQTS negative. A FHR/GA threshold predicted LQT1 and LQT2 with 74.9% accuracy, 71% sensitivity, and 81% specificity. CONCLUSION: Genotype, LQT1 variant, and maternal beta-blocker therapy affect FHR. A predictive threshold of FHR/GA significantly improves the accuracy, sensitivity, and specificity for LQT1 and LQT2, above the infant's a priori 50% probability. We speculate this model may be useful in screening for LQTS in perinatal subjects without a known LQTS family history.

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 01 May 2024 04:45
Last Modified: 01 May 2024 04:45
URI: http://eprints.victorchang.edu.au/id/eprint/1467

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