Sudden Death Associated withQTInterval Prolongation andKCNQ1 Gene Mutation in a Family of English Springer Spaniels

Journal of Veterinary Internal Medicine - Tập 29 Số 2 - Trang 561-568 - 2015
Wendy A. Ware1, Yamir Reina‐Doreste2,3, Joshua A. Stern2,3, Kathryn M. Meurs2,3
1Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA
2Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC
3Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis, CA

Tóm tắt

BackgroundA 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.HypothesisAbnormal cardiac repolarization, caused by an inherited longQTsyndrome, is thought to be responsible for arrhythmias leading to sudden death in this family.AnimalsFour remaining dogs from the affected litter and 11 related dogs.MethodsPhysical examination and restingECGwere 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 forDNAsequencing was obtained from all 15 dogs.ResultsThree of 4 littermates examined, but no other dogs, had prolongedQTintervals with unique T‐wave morphology.DNAsequencing of theKCNQ1 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.Conclusions and Clinical ImportanceThis family represents the first documentation in dogs of spontaneous familialQTprolongation, which was associated with aKCNQ1 gene mutation and sudden death. Although the final rhythm could not be documented in these dogs, their phenotypic manifestations ofQTinterval prolongation and abnormalECGrestitution suggested increased risk for sudden arrhythmic death. TheKCNQ1 gene mutation identified is speculated to impair the cardiac repolarizing currentIKs,similar toKCNQ1 mutations causing longQTsyndrome 1 in humans.

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Journal of Veterinary Internal Medicine

Tập 29 Số 2

561-568

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