Long QT Syndrome
Breed: English Springer Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Long QT Syndrome
OMIA
-46
Gene Name
KCNQ1
Mutation
unpublished
Test Type
Genetic Disease/Disorder
Details
QT Syndrome is a rare cardiac disease associated with sudden death. The disease predisposes to fatal ventricular arrhythmias. Affected dogs exhibit no other cardiac symptoms before death. Some affected dogs may have a detectable systolic murmur or increased heart rate upon auscultation. The most characteristic sign of the disease is a prolonged QT-interval on ECG. The disease has been reported in the English Springer Spaniel. The mode of inheritance is most probably autosomal dominant. [from MyDogDNA]
Details 2
...The KCNQ1 gene mutation identified is speculated to impair the cardiac repolarizing current IKs, similar to KCNQ1 mutations causing long QT syndrome 1 in humans...a form of inherited LQTS was responsible for abnormal cardiac repolarization and sudden death in (the researched) family of dogs. (The researchers) evaluate(d) surviving littermates and related dogs for phenotypic evidence of LQTS and a causative mutation [from Ware et. al 2015]
Published
Ware W, Reina-Doreste Y , Stern J, Meurs K. Sudden Death Associated with QT Interval Prolongation and KCNQ1 Gene Mutation in a Family of English Springer Spaniels. J Vet Intern Med;29:561?568, 2015.
Body/System/Process
Cardiovascular
Inheritance
ARIP assumed
HSP Test-Specific Data
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
KCNQ1
Mutation
unpublished
Nature of test
mutation test
Inheritance
AR
FCI Number
125
GTP Breed
English Springer Spaniel
Key Comment