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Fetal heart rate reflects mutation burden and clinical outcome in twin probands with KCNQ1 mutations
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Paediatrics.
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Paediatrics.
2018 (English)In: HeartRhythm case reports, ISSN 2214-0271, Vol. 4, no 6, p. 237-240Article in journal (Refereed) Published
Abstract [en]

We present the case of a twin pregnancy of heterozygous andhomozygous long QT syndrome (LQTS) type 1 (LQT1)genotype, referred because of in utero bradycardia in thehomozygous twin at 19 weeks of gestation, with follow-upuntil.12 months of age. Fetal heart rate may predict bothgenotype and disease severity, as previously shown in2 LQTS founder populations.1This unique case report is acomparison of fetal heart rate and clinical outcome in twinprobands of heterozygous and homozygous genotype, in afamily without prior diagnosis of LQTS. In this setting, wediscuss the early management of LQTS and Jervell andLange-Nielsen syndrome (JLNS) detected in utero.

Place, publisher, year, edition, pages
2018. Vol. 4, no 6, p. 237-240
Keywords [en]
Early detection, Fetal heart rate, In utero bradycardia, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Presymptomatic risk stratification
National Category
Obstetrics, Gynecology and Reproductive Medicine
Identifiers
URN: urn:nbn:se:umu:diva-158921DOI: 10.1016/j.hrcr.2018.02.008PubMedID: 29922582OAI: oai:DiVA.org:umu-158921DiVA, id: diva2:1315876
Available from: 2019-05-15 Created: 2019-05-15 Last updated: 2019-05-16Bibliographically approved

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Winbo, AnnikaRydberg, Annika

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CiteExportLink to record
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Citation style
  • apa
  • ieee
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  • de-DE
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Output format
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