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Third Trimester Fetal Heart Rate Predicts Phenotype and
Mutation Burden in the Type 1 Long QT Syndrome
by Annika Winbo, Inger Fosdal, Maria Lindh, Ulla-Britt Diamant, Johan Persson,
Göran Wettrell, and Annika Rydberg
Circ Arrhythm Electrophysiol
Volume 8(4):806-814
August 18, 2015
Copyright © American Heart Association, Inc. All rights reserved.
Overview of the relatedness data used in the measured genotype association analysis
performed by Sequential Oligogenic Linkage Analysis Routines (SOLAR18;
http://www.sfbr.org/solar) and Statistical Analysis for Genetic Epidemiology software (SAGE19;
http://darwin.cwru.edu).
Annika Winbo et al. Circ Arrhythm Electrophysiol.
2015;8:806-814
Copyright © American Heart Association, Inc. All rights reserved.
A, Mean prelabor third trimester fetal heart rates were significantly lower per added KCNQ1
mutation (no mutation, 143±5 beats per minute [n=69] vs single mutation, 134±8 beats per
minute [n=93]; P<0.0001; single mutation vs double mutations, 111±6 beats per minute [n=13,
including 1 Jervell and Lange–Nielsen syndrome case of unascertained genotype]; P<0.0001),
calculated by pedigree-based measured genotype association analysis.
Annika Winbo et al. Circ Arrhythm Electrophysiol.
2015;8:806-814
Copyright © American Heart Association, Inc. All rights reserved.
Mean third trimester heart rates, stratified by specific genotype, with intrauterine exposure to βblockers indicated by marker shapes (minus sign, no exposure; ×, β-blockers in utero).
Annika Winbo et al. Circ Arrhythm Electrophysiol.
2015;8:806-814
Copyright © American Heart Association, Inc. All rights reserved.
A significant inverse correlation (R2 linear=0.452) was seen between genotype (no mutation,
single mutation, and double mutations), third trimester fetal heart rate in beats per minute, and
QTc from available postnatal ECGs (n=124) in 2 long QT syndrome type 1 founder populations
(minus sign indicates no mutation; circle, single mutation; and plus sign, double mutations).
Annika Winbo et al. Circ Arrhythm Electrophysiol.
2015;8:806-814
Copyright © American Heart Association, Inc. All rights reserved.
Pedigrees illustrating relationship between mutation carriage, mean third trimester heart rate,
and post natal QTc in p.Y111C families including sibling-ships of both noncarrier and single
mutation carrier genotype, and complete data for all parameters (heart rate in beats per minute,
on the first line directly below each fetus, and QTc in ms on the second line).
Annika Winbo et al. Circ Arrhythm Electrophysiol.
2015;8:806-814
Copyright © American Heart Association, Inc. All rights reserved.
Mean third trimester heart rates, stratified by specific genotype, and phenotype indicated by
marker shapes (minus sign, no symptoms; ×, arrhythmia symptoms), related to different cutoffs
(horizontal lines) representing obstetric standard for bradycardia (<110 beats per minute),
reduced fetal heart rate (110–120 beats per minute), and the discussed cut-off for long-QT
syndrome (LQTS) suspicion (≤133 beats per minute, ie, mean noncarrier heart rate −2 SD).
Annika Winbo et al. Circ Arrhythm Electrophysiol.
2015;8:806-814
Copyright © American Heart Association, Inc. All rights reserved.