title: Primary infundibular stenosis and pedigree analysis in three Golden Retriever littermates.
abstract: Three eight-week-old Golden Retriever puppy littermates were evaluated because of left basilar systolic murmurs and were diagnosed with primary infundibular stenosis. Pedigree analysis in this line was also performed to identify a mode of inheritance. All dogs were asymptomatic at the time of diagnosis; two of the three had congenital lesions in addition to primary infundibular stenosis. Two additional affected dogs were identified in the line, and pedigree analysis suggested an autosomal recessive mode of inheritance. Another, unrelated golden retriever was also identified with isolated infundibular stenosis in the record database. Primary infundibular stenosis should be considered in the differential diagnoses for golden retriever dogs with a left basilar systolic murmur, and is often associated with complex congenital cardiac disease. Primary infundibular stenosis may worsen in severity with time, and in this line of dogs an autosomal recessive pattern of inheritance is likely.
authors.affiliation: Section of Clinical Studies, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA. jarndt@accla.net
authors.forename: Jason
authors.initials: J
authors.lastname: Arndt
authors.forename: Petra
authors.initials: P
authors.lastname: Werner
authors.forename: Meg
authors.initials: M
authors.lastname: Sleeper
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D001947:Breeding; D003937:Diagnosis, Differential; D004283:Dog Diseases / Q000175:diagnosis* / Q000235:genetics; D004285:Dogs; D004452:Echocardiography / Q000662:veterinary; D005260:Female; D008297:Male; D011662:Pulmonary Subvalvular Stenosis / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*