此病例报告描述了临床表现,尸检结果,和一个13岁的Warmblood母马的遗传结果,表现为绞痛和双侧大声,全收缩期杂音.超声心动图检查显示存在胸主动脉瘤,主动脉假性动脉瘤,主动脉周围血肿(血管周围出血引起的环状袖口),和主动脉肺动脉瘘.在超声心动图检查期间可以看到瓣上主动脉瓣狭窄(SVAS)。尸检证实胸主动脉瘤破裂并与假性动脉瘤相连,瘘管进入肺动脉。组织学上,动脉瘤壁显示慢性病变,如纤维化,粘蛋白沉积,矿化,和弹性蛋白片段化。腹主动脉中部显示病变,提示系统性弹性蛋白动脉病。分子分析,然而,不能将这种疾病归因于弹性蛋白基因的变异,SVAS最常见的致病基因。就作者所知,本病例报告描述了一例与SVAS和主动脉瘤相关的Warmblood马发生主动脉肺动脉瘘的病例。
This case report describes the clinical presentation, the necropsy findings, and genetic results of a 13-year-old Warmblood mare presented with colic and a bilaterally loud, holosystolic murmur. Echocardiographic examination revealed the presence of a thoracic aortic aneurysm, an aortic pseudoaneurysm, a periaortic hematoma (circumferential cuffing by perivascular hemorrhage), and aortopulmonary fistulation. A supravalvular aortic stenosis (SVAS) was visible during echocardiography. Necropsy confirmed that the thoracic aortic aneurysm had ruptured and connected to the pseudoaneurysm, which fistulated into the pulmonary artery. Histologically, the aneurysm wall revealed chronic lesions such as fibrosis, mucin depositions, mineralizations, and elastin fragmentation. The mid abdominal aorta showed lesions suggestive of a systemic elastin arteriopathy. Molecular analysis, however, could not attribute this disease to a variant in the elastin gene, the most common causative gene for SVAS. To the authors\' knowledge, this case report describes a case of aortopulmonary fistulation in a Warmblood horse associated with the presence of SVAS and an aortic aneurysm.