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

Kaizer, Alexander M; Winbo, Annika; Clur, Sally-Ann B; Etheridge, Susan P; Ackerman, Michael J; Horigome, Hitoshi; Herberg, Ulrike; Dagradi, Federica; Spazzolini, Carla; Killen, Stacy A S; Wacker-Gussmann, Annette; Wilde, Arthur A M; Sinkovskaya, Elena; Abuhamad, Alfred; Torchio, Margherita; Ng, Chai-Ann; Rydberg, Annika; Schwartz, Peter J; Cuneo, Bettina F

doi:10.1093/europace/euad319

Klinik für Kinderkardiologie und angeborene Herzfehler (DHM) (Prof. Ewert)

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Title:: Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome.
Document type:: Article; Journal Article
Author(s):: Kaizer, Alexander M; Winbo, Annika; Clur, Sally-Ann B; Etheridge, Susan P; Ackerman, Michael J; Horigome, Hitoshi; Herberg, Ulrike; Dagradi, Federica; Spazzolini, Carla; Killen, Stacy A S; Wacker-Gussmann, Annette; Wilde, Arthur A M; Sinkovskaya, Elena; Abuhamad, Alfred; Torchio, Margherita; Ng, Chai-Ann; Rydberg, Annika; Schwartz, Peter J; Cuneo, Bettina F
Abstract:: 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 β-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 β-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 β-adrenergic response) had lower FHR. Maternal β-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 β-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.
Journal title abbreviation:: Europace
Year:: 2023
Journal volume:: 25
Journal issue:: 11
Fulltext / DOI:: doi:10.1093/europace/euad319
Pubmed ID:: http://view.ncbi.nlm.nih.gov/pubmed/37975542
Print-ISSN:: 1099-5129
TUM Institution:: Klinik für Kinderkardiologie und angeborene Herzfehler (DHM) (Prof. Ewert)
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mediaTUM Gesamtbestand Einrichtungen Schools TUM School of Medicine and Health Departments Clinical Medicine Lehr- und Forschungskooperationen mit den Kliniken und Instituten am Deutschen Herzzentrum Klinik für Kinderkardiologie und angeborene Herzfehler (DHM) (Prof. Ewert)2023