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Vink, Arja S.

https://orcid.org/0000-0001-6571-7967

A5059072781 | I2802928900

Mayo Clinic

Amsterdam UMC Location University of Amsterdam

Citations 2

SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups

European Heart Journal | July 3, 2018 | Volume: 39 | Issue: 31 | Pages: 2879-2887

10.1093/eurheartj/ehy412 | PMID 30059973

Left Ventricular Isovolumetric Relaxation Time Is Prolonged in Fetal Long-QT Syndrome

Circulation: Arrhythmia and Electrophysiology | April 13, 2018 | Volume: 11 | Issue: 4 | Pages: No page available

10.1161/circep.117.005797 | PMID 29654130

Background: Long-QT syndrome (LQTS), an inherited cardiac repolarization disorder, is an important cause of fetal and neonatal mortality. Detecting LQTS prenatally is challenging. A fetal heart rate (FHR) less than third percentile for gestational age is specific for LQTS, but the sensitivity is only ≈50%. Left ventricular isovolumetric relaxation time (LVIRT) was evaluated as a potential diagnostic marker for fetal LQTS. Methods and Results: LV isovolumetric contraction time, LV ejection time, LVIRT, cycle length, and FHR were measured using pulsed Doppler waveforms in fetuses. Time intervals were expressed as percentages of cycle length, and the LV myocardial performance index was calculated. Single measurements were stratified by gestational age and compared between LQTS fetuses and controls. Receiver-operator curves were performed for FHR and normalized LVIRT (N-LVIRT). A linear mixed-effect model including multiple measurements was used to analyze trends in FHR, N-LVIRT, and LV myocardial performance index. There were 33 LQTS fetuses and 469 controls included. In LQTS fetuses, the LVIRT was prolonged in all gestational age groups ( P <0.001), as was the N-LVIRT. The best cutoff to diagnose LQTS was N-LVIRT ≥11.3 at ≤20 weeks (92% sensitivity, 70% specificity). Simultaneous analysis of N-LVIRT and FHR improved the sensitivity and specificity for LQTS (area under the curve=0.96; 95% confidence interval, 0.82–1.00 at 21–30 weeks). N-LVIRT, LV myocardial performance index, and FHR trends differed significantly between LQTS fetuses and controls through gestation. Conclusions: The LVIRT is prolonged in LQTS fetuses. Findings of a prolonged N-LVIRT and sinus bradycardia can improve the prenatal detection of fetal LQTS.