Epidemiology, presentation and population genetics of patent ductus arteriosus (PDA) in the Dutch Stabyhoun dog.
BACKGROUND
Patent ductus arteriosus (PDA) is one of the most common congenital heart defects in dogs and is considered to be a complex, polygenic threshold trait for which a female sex predisposition has been described. Histological studies in dogs suggest that smooth muscle hypoplasia and asymmetry of the ductus tissue is the major cause of PDA. The Stabyhoun population is small and a predisposition for PDA has been suggested. The aims of this study were to describe the incidence, presentation from a clinical and histopathological perspective, and the population genetics of PDA in the Dutch Stabyhoun population.


RESULTS
Forty-six cases were identified between 2000 and 2013. Between 2009 and 2012 the birth incidence of PDA in the Stabyhoun breed was 1.05 %. We estimated this to be 7-13 times higher than expected in the general dog population. Twelve of the 46 cases were part of a litter in which more than one sibling was affected. There was no sex predilection in our case cohort. Dogs diagnosed in adulthood showed severe cardiomegaly. The mean inbreeding coefficient of the reference population of Stabyhoun dogs was 31.4 % and the actual and effective numbers of founders were 14 and 6.5, respectively. The heritability of PDA was 0.51 (±0.09) for the reference population and 0.41 (±0.10) for the phenotyped population. Histopathology of sections of the PDA from two dogs showed findings similar to those described in other breeds although the smooth muscle of the ductus adjacent to the pulmonary artery appeared more hypoplastic than that in the ductus adjacent to the aorta.


CONCLUSIONS
The Stabyhoun breed shows a strong predisposition for PDA. Apart from the absence of a higher incidence in females, no other significant features distinguish PDA in Stabyhouns from the condition in other dog breeds. Heritability and the mean inbreeding coefficient are both very high making the Dutch Stabyhoun breed particularly suited to the study of inherited risk factors for PDA.
Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3508, TD, Utrecht, The Netherlands. M.L.denToom@uu.nl.
Marjolein L
ML
den Toom
Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3508, TD, Utrecht, The Netherlands.
Agnes E
AE
Meiling
Department of Pathobiology, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 1, 3485, CL, Utrecht, The Netherlands.
Rachel E
RE
Thomas
Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3508, TD, Utrecht, The Netherlands.
Peter A J
PA
Leegwater
Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3508, TD, Utrecht, The Netherlands.|Animal Breeding and Genomics Centre, Wageningen University, P.O. box 338, 6700, AH, Wageningen, The Netherlands.
Henri C M
HC
Heuven
D000818:Animals; D004285:Dogs / Q000002:abnormalities*; D004374:Ductus Arteriosus, Patent / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D005260:Female; D008297:Male; D013045:Species Specificity
Canine; Genetics; Heritability; PDA; Patent ductus arteriosus; Prevalence; Sex predisposition