Prevalence and heritability of symptomatic syringomyelia in Cavalier King Charles Spaniels and long-term outcome in symptomatic and asymptomatic littermates.

Background: Syringomyelia (SM) is common in the Cavalier King Charles Spaniel (CKCS). Dogs with syringes express clinical signs or might be clinically silent.

Objective: To investigate the prevalence and heritability of symptomatic SM, the association between clinical signs and magnetic resonance imaging (MRI) findings, and long-term outcome.

Methods: All CKCS registered in the Danish Kennel Club in 2001 (n = 240). Methods: A cross-sectional questionnaire-based prevalence study validated by telephone interviews and clinically investigated clinical signs of SM. Dogs were 6 years at the time of investigation. A prospective observational litter study including clinical investigations, MRI and 5-year follow-up of symptomatic and asymptomatic siblings. Heritability was estimated based on the scale of liability in the study population and litter cohort.

Results: The cross-sectional study estimated a prevalence of symptomatic SM at 15.4% in the population. Thirteen symptomatic and 9 asymptomatic siblings participated in the litter study. Spinal cord syringes were confirmed in 21 of 22 littermates (95%). Syrinx diameter and mean syrinx : spinal cord ratio were significantly correlated with clinical signs (P < .01). Estimated heritability of symptomatic SM was 0.81. Symptomatic SM motivated euthanasia in 20%. Dogs with syringes, which expressed no clinical signs at the age of 6, remained asymptomatic in 14/15 cases (93%).

Conclusions: The prevalence of symptomatic SM is high and genetics have a high impact on clinical disease expression. Further investigations of factors influencing the outbreak threshold of clinical signs of SM are desirable.