Inheritance of cricopharyngeal dysfunction in Golden Retrievers

To characterize a genetic component to cricopharyngeal dysfunction (CD) in Golden Retrievers.

117 dogs.

The CD phenotype was determined by videofluoroscopy, and dogs were classified as affected if the upper esophageal sphincter (UES) did not open, if there were morphologic abnormalities of the UES, or if opening of the UES was delayed for > or = 6 videofluoroscopic frames (0.2 seconds) after closure of the epiglottis. All survey radiographic and videofluoroscopic studies were reviewed by the same radiologist.

Of the 117 dogs (47 males and 70 females) with a CD phenotype determined via videofluoroscopy, 21 dogs (18.0%) had abnormalities of the UES (affected). Of these 21 dogs, 9 were males (19.1% of all males) and 12 were females (17.1% of all females). The heritability of CD in a threshold model was estimated as 0.61, which established that CD could be passed from parent to offspring. Results of complex segregation analysis suggested that a single recessive allele of large effect contributed to the expression of this disease in Golden Retrievers.

The determination that CD is inherited in Golden Retrievers is an important step in providing information for veterinarians attending dogs with this disorder. Breeders also require this information to make informed breeding decisions.