Sudden death associated with QT interval prolongation and KCNQ1 gene mutation in a family of English Springer Spaniels

Journal of Veterinary Internal Medicine
W A WareK M Meurs

Abstract

A 5-year-old, healthy English Springer Spaniel died suddenly 4 months after delivering a litter of 7 puppies. Within 4 months of the dam's death, 3 offspring also died suddenly. Abnormal cardiac repolarization, caused by an inherited long QT syndrome, is thought to be responsible for arrhythmias leading to sudden death in this family. Four remaining dogs from the affected litter and 11 related dogs. Physical examination and resting ECG were done on the littermates and 9 related dogs. Additional tests on some or all littermates included echocardiogram with Doppler, Holter monitoring, and routine serum biochemistry. Blood for DNA sequencing was obtained from all 15 dogs. Three of 4 littermates examined, but no other dogs, had prolonged QT intervals with unique T-wave morphology. DNA sequencing of the KCNQ1 gene identified a heterozygous single base pair mutation, unique to these 3 dogs, which changes a conserved amino acid from threonine to lysine and is predicted to change protein structure. This family represents the first documentation in dogs of spontaneous familial QT prolongation, which was associated with a KCNQ1 gene mutation and sudden death. Although the final rhythm could not be documented in these dogs, their phenotyp...Continue Reading

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Citations

May 3, 2016·Journal of the American Veterinary Medical Association·Kathryn M MeursSteven G Friedenberg
Jun 19, 2018·Journal of the American Veterinary Medical Association·Samantha J SalmonCaroline F Baldo
May 16, 2020·Journal of the American Animal Hospital Association·Simon P HagleyRobert Poppenga
Dec 29, 2020·Journal of Veterinary Cardiology : the Official Journal of the European Society of Veterinary Cardiology·S SudunaguntaJ Dukes-McEwan
Dec 28, 2019·Journal of Veterinary Cardiology : the Official Journal of the European Society of Veterinary Cardiology·M WibergH Lohi
Nov 17, 2020·Frontiers in Veterinary Science·Stephanie KeatingDavid J Schaeffer
Jul 22, 2019·Research in Veterinary Science·Pamela M Lee, Rebecca H T Brown
Apr 4, 2021·Journal of Veterinary Cardiology : the Official Journal of the European Society of Veterinary Cardiology·Seunggon Lee, M D Kittleson
Jun 21, 2021·The Veterinary Journal·Celine Brugada-TerradellasPascale Smets
Jul 10, 2021·Journal of Veterinary Cardiology : the Official Journal of the European Society of Veterinary Cardiology·G Romito, M Cipone
Oct 26, 2021·Journal of Feline Medicine and Surgery·Mark D Kittleson, Etienne Côté

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Datasets Mentioned

BETA
KF439050

Methods Mentioned

BETA
PCR

Software Mentioned

Protean 3D
UCSC genome browser CanFam3
SWISS
Primer
MODEL
GOR4
MODEL Workspace
Protean
Polyphen2

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