Electrophysiological phenotype in the LQTS mutations Y111C and R518X in the KCNQ1 gene

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Electrophysiological phenotype in the LQTS mutations Y111C and R518X in the KCNQ1 gene

Diamant, Ulla-Britt, 1955- (author): Umeå universitet,Kardiologi

Vahedi, Farzad (author): Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine

Winbo, Annika (author): Umeå universitet,Pediatrik

Rydberg, Annika (author): Umeå universitet,Pediatrik

Stattin, Eva-Lena (author): Umeå universitet,Medicinsk och klinisk genetik

Jensen, Steen M (author): Umeå universitet,Kardiologi

Bergfeldt, Lennart, 1950 (author): Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine

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American Physiological Society, 2013
2013
English.
In: Journal of applied physiology. - : American Physiological Society. - 8750-7587 .- 1522-1601. ; 115:10, s. 1423-1432

Related links:: https://urn.kb.se/re...; show more...; https://doi.org/10.1...; https://gup.ub.gu.se...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

Long QT syndrome is the prototypical disorder of ventricular repolarization (VR), and a genotype-phenotype relation is postulated. Furthermore, although increased VR heterogeneity (dispersion) may be important in the arrhythmogenicity in long QT syndrome, this hypothesis has not been evaluated in humans and cannot be tested by conventional electrocardiography. In contrast, vectorcardiography allows assessment of VR heterogeneity and is more sensitive to VR alterations than electrocardiography. Therefore, vectorcardiography was used to compare the electrophysiological phenotypes of two mutations in the LQT1 gene with different in vitro biophysical properties, and with LQT2 mutation carriers and healthy control subjects. We included 99 LQT1 gene mutation carriers (57 Y111C, 42 R518X) and 19 LQT2 gene mutation carriers. Potassium channel function is in vitro most severely impaired in Y111C. The control group consisted of 121 healthy subjects. QRS, QT, and T-peak to T-end (Tp-e) intervals, measures of the QRS vector and T vector and their relationship, and T-loop morphology parameters were compared at rest. Apart from a longer heart rate-corrected QT interval (QT heart rate corrected according to Bazett) in Y111C mutation carriers, there were no significant differences between the two LQT1 mutations. No signs of increased VR heterogeneity were observed among the LQT1 and LQT2 mutation carriers. QT heart rate corrected according to Bazett and Tp-e were longer, and the Tp-e-to-QT ratio greater in LQT2 than in LQT1 and the control group. In conclusion, there was a marked discrepancy between in vitro potassium channel function and in vivo electrophysiological properties in these two LQT1 mutations. Together with previous observations of the relatively low risk for clinical events in Y111C mutation carriers, our results indicate need for cautiousness in predicting in vivo electrophysiological properties and the propensity for clinical events based on in vitro assessment of ion channel function alone.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)

Keyword

electrocardiography
electrophysiology
long QT syndrome
diagnosis
arrhythmia
genes
mutation
kardiologi
Cardiology
electrocardiography
electrophysiology
long QT syndrome
diagnosis
arrhythmia
genes
mutation

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art (subject category)

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By the author/editor: Diamant, Ulla-Br ...; Vahedi, Farzad; Winbo, Annika; Rydberg, Annika; Stattin, Eva-Len ...; Jensen, Steen M; show more...; Bergfeldt, Lenna ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cardiac and Card ...

Articles in the publication: Journal of appli ...

By the university: Umeå University; University of Gothenburg

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