Third Trimester Fetal Heart Rate Predicts Phenotype and Mutation Burden in the Type 1 Long QT Syndrome
| Autor: | Ulla-Britt Diamant, Maria Lindh, Göran Wettrell, Inger Fosdal, Annika Rydberg, Annika Winbo, Johan Persson |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
medicine.medical_specialty
Fetus business.industry Long QT syndrome medicine.disease Third trimester Phenotype Fetal heart rate Endocrinology Physiology (medical) Internal medicine Mutation (genetic algorithm) Risk stratification Heart rate medicine Cardiology Cardiology and Cardiovascular Medicine business |
| Zdroj: | Circulation: Arrhythmia and Electrophysiology. 8:806-814 |
| ISSN: | 1941-3084 1941-3149 |
| DOI: | 10.1161/circep.114.002552 |
| Popis: | Background— Early diagnosis and risk stratification is of clinical importance in the long QT syndrome (LQTS), however, little genotype-specific data are available regarding fetal LQTS. We investigate third trimester fetal heart rate, routinely recorded within public maternal health care, as a possible marker for LQT1 genotype and phenotype. Methods and Results— This retrospective study includes 184 fetuses from 2 LQT1 founder populations segregating p.Y111C and p.R518X (74 noncarriers and 110 KCNQ1 mutation carriers, whereof 13 double mutation carriers). Pedigree-based measured genotype analysis revealed significant associations between fetal heart rate, genotype, and phenotype; mean third trimester prelabor fetal heart rates obtained from obstetric records (gestational week 29–41) were lower per added mutation (no mutation, 143±5 beats per minute; single mutation, 134±8 beats per minute; double mutations, 111±6 beats per minute; P P r =0.700; P r =−0.762; P P –23 ). Arrhythmia symptoms and intrauterine β-blocker exposure each predicted −7 beats per minute, P Conclusions— In this study including 184 fetuses from 2 LQT1 founder populations, third trimester fetal heart rate discriminated between fetal genotypes and correlated with severity of postnatal cardiac phenotype. This finding strengthens the role of fetal heart rate in the early detection and risk stratification of LQTS, particularly for fetuses with double mutations, at high risk of early life-threatening arrhythmias. |
| Databáze: | OpenAIRE |
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