Ontiveros Eric S, Stern Joshua A
Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, CA, 95616, USA.
Canine Med Genet. 2021 May 7;8(1):4. doi: 10.1186/s40575-021-00103-4.
Subvalvular aortic stenosis (SAS) is one of the most common congenital heart defects of dogs. The disease is characterized by obstruction of the left ventricular outflow tract, resulting in pressure overload on the left ventricle. The etiology of obstruction is a fibromuscular nodule, ridge, or ring of tissue that increases aortic outflow tract velocity. This review is focused on the prevalence, inheritance pattern, and current genetic insights of canine SAS. The prevalence of this disease was reported at 4.7 % in a large veterinary referral hospital. The mode of inheritance for this disease has also been described in breeds with a high disease prevalence such as the Bullmastiff, Bouvier des Flandres, Dogue de Bordeaux, Golden Retriever, Newfoundland, and Rottweiler. Genetic investigations seeking to identify causative mutations for SAS are lacking with only a single published variant associated with SAS in Newfoundlands.
瓣下主动脉狭窄（SAS）是犬类最常见的先天性心脏缺陷之一。该病的特征是左心室流出道受阻，导致左心室压力过载。梗阻的病因是纤维肌性结节、嵴或组织环，其增加了主动脉流出道速度。本综述聚焦于犬类SAS的患病率、遗传模式及当前的遗传学见解。在一家大型兽医转诊医院，该病的患病率报告为4.7%。在疾病患病率较高的品种中，如斗牛獒犬、佛兰德牧牛犬、波尔多犬、金毛寻回犬、纽芬兰犬和罗威纳犬，也描述了该病的遗传模式。目前缺乏旨在确定SAS致病突变的基因研究，仅在纽芬兰犬中有一个与SAS相关的已发表变异。
