# Low foetal heart rate, a potentially ominous finding: case report

**Authors:** Andreea Sorina Afana, Cristina Filip, Brindusa Cimpoca, Ioana Dumitrascu-Biris, Ruxandra Jurcut

PMC · DOI: 10.1093/ehjcr/ytae440 · European Heart Journal. Case Reports · 2024-09-01

## TL;DR

A case report shows that low fetal heart rate can indicate long QT syndrome in the mother, requiring early diagnosis and treatment to prevent cardiac events.

## Contribution

Highlights prenatal detection of LQTS type 1 through persistent fetal bradycardia in an asymptomatic mother.

## Key findings

- Persistent fetal sinus bradycardia led to the diagnosis of LQTS type 1 in the mother.
- Genetic testing confirmed the inherited KCNQ1 variant, and beta-blocker therapy was initiated for the infant.

## Abstract

Congenital long QT syndrome (LQTS) type 1 is characterized by abnormally prolonged ventricular repolarization caused by inherited defects in cardiac potassium channels. Patients are predisposed to ventricular arrhythmias and even sudden cardiac death. In some cases, foetal sinus bradycardia is the only sign, making prenatal diagnosis challenging. Physicians should be aware of this subtle presentation of LQTS. Early diagnosis and proactive treatment are crucial for preventing unexpected cardiac events.

A healthy and asymptomatic 25-year-old pregnant woman was referred to our institute for cardiac evaluation after persistent foetal sinus bradycardia was detected during repeated ultrasounds, despite the absence of any foetal morphological or functional cardiac anomalies. After a thorough assessment, the mother was diagnosed with LQTS type 1, as confirmed by molecular genetic testing. Appropriate management, including maternal medication and increased surveillance, was initiated. The infant was delivered safely, and his electrocardiogram revealed a significantly prolonged QTc interval. Genetic testing confirmed the maternally inherited variant in KCNQ1 gene, and beta-blocker therapy was started. No arrhythmic events were noted.

Detection and careful stratification of foetal heart rate (FHR) is crucial in every pregnancy. Foetal bradycardia can be caused by both maternal and foetal factors. Persistent low FHR should raise a high suspicion for LQTS. The condition may also present with atrioventricular blocks, torsades de pointes, or sudden intrauterine foetal demise. Accurate and early diagnosis of LQTS is essential for implementing appropriate management strategies, which include vigilant monitoring, effective medical treatment, careful planning of delivery, and post-natal care.

## Linked entities

- **Genes:** KCNQ1 (potassium voltage-gated channel subfamily Q member 1) [NCBI Gene 3784]
- **Diseases:** long QT syndrome (MONDO:0002442), sudden cardiac death (MONDO:0007264)

## Full-text entities

- **Genes:** KCNQ1 (potassium voltage-gated channel subfamily Q member 1) [NCBI Gene 3784] {aka ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1}
- **Diseases:** abnormally prolonged ventricular repolarization (MESH:D008133), torsades de pointes (MESH:D016171), intrauterine foetal demise (MESH:D005313), potassium channels (MESH:D011191), ventricular arrhythmias (MESH:D001145), bradycardia (MESH:D001919), QTc interval (OMIM:610141), sudden cardiac death (MESH:D016757), Congenital long QT syndrome (LQTS) type 1 (MESH:D029597), cardiac anomalies (MESH:D006331), arrhythmic (OMIM:212500), sinus bradycardia (MESH:D012804), inherited defects (MESH:D030342), atrioventricular blocks (MESH:D054537)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11366078/full.md

## References

15 references — full list in the complete paper: https://tomesphere.com/paper/PMC11366078/full.md

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Source: https://tomesphere.com/paper/PMC11366078