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病例报告:犬无症状性冠状静脉窦未闭一例:诊断性影像学及遗传学发现

Case Report: A rare case of asymptomatic unroofed coronary sinus in a dog: diagnostic imaging and genetic findings.

作者信息

Choi Yoonju, Yoon Wonkyoung, Park Byung-Yong, Jang Young-Jin, Lee Kichang, Yoon Hakyoung

机构信息

Department of Veterinary Medical Imaging, College of Veterinary Medicine, Jeonbuk National University, Iksan, Republic of Korea.

Guardian Angel Veterinary Hospital, Anyang, Republic of Korea.

出版信息

Front Vet Sci. 2025 Jul 30;12:1611021. doi: 10.3389/fvets.2025.1611021. eCollection 2025.

DOI:10.3389/fvets.2025.1611021
PMID:40808768
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12343278/
Abstract

A 2-year-old, 3.8 kg spayed female Pomeranian was presented for a routine health examination with no clinical signs. Physical examination revealed no cardiac murmur. Blood tests were unremarkable and electrocardiography revealed normal sinus rhythm. Thoracic radiography showed a normal cardiac silhouette. Transthoracic echocardiography identified a left atrial size at the upper limit of the normal range (left atrium-to-aortic root ratio: 1.7) and a markedly visualized tubular structure along the posterior wall of the left atrium, presumed to be the coronary sinus. Color Doppler imaging revealed continuous flow into the right atrium without evidence of atrial septal defect. There was no evidence of pulmonary hypertension and a bubble study excluded an intracardiac right-to-left shunt. Subsequent computed tomography identified a 3.6 mm partial defect between the midportion of the coronary sinus and the left atrium, consistent with a partial unroofed coronary sinus. Despite the absence of coronary sinus dilation, contrast enhancement patterns were similar in both the coronary sinus and the left atrium, supporting the presence of a left-to-right shunt. No other congenital abnormalities were identified, and regular follow-up with echocardiography and clinical sign monitoring was recommended. Whole-exome sequencing revealed four unique missense single nucleotide variants in genes potentially implicated in cardiac development. This case highlights that unroofed coronary sinus can occur without clinical signs or associated anomalies in dogs and further presents potential genetic variants identified through whole-exome sequencing, contributing to a better understanding of this rare defect.

摘要

一只2岁、体重3.8千克的已绝育雌性博美犬前来进行常规健康检查,无临床症状。体格检查未发现心脏杂音。血液检查无异常,心电图显示窦性心律正常。胸部X光检查显示心脏轮廓正常。经胸超声心动图显示左心房大小在正常范围上限(左心房与主动脉根部比值:1.7),且在左心房后壁可见一个明显的管状结构,推测为冠状窦。彩色多普勒成像显示有持续血流进入右心房,无房间隔缺损证据。无肺动脉高压证据,气泡试验排除了心内右向左分流。随后的计算机断层扫描显示冠状窦中部与左心房之间有一个3.6毫米的部分缺损,符合部分无顶冠状窦。尽管冠状窦无扩张,但冠状窦和左心房的对比增强模式相似,支持存在左向右分流。未发现其他先天性异常,建议定期进行超声心动图检查并监测临床症状。全外显子组测序在可能与心脏发育相关的基因中发现了四个独特的错义单核苷酸变异。该病例突出表明,无顶冠状窦在犬类中可无临床症状或相关异常出现,并进一步展示了通过全外显子组测序鉴定出的潜在基因变异,有助于更好地理解这种罕见缺陷。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ab/12343278/5740cf22b0c0/fvets-12-1611021-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ab/12343278/531d1c97e476/fvets-12-1611021-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ab/12343278/f08c410818ec/fvets-12-1611021-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ab/12343278/c88d777dd5b8/fvets-12-1611021-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ab/12343278/5740cf22b0c0/fvets-12-1611021-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ab/12343278/531d1c97e476/fvets-12-1611021-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ab/12343278/f08c410818ec/fvets-12-1611021-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ab/12343278/c88d777dd5b8/fvets-12-1611021-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ab/12343278/5740cf22b0c0/fvets-12-1611021-g004.jpg

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本文引用的文献

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Genetic and epigenetic mechanisms in the development of congenital heart diseases.先天性心脏病发生发展中的遗传和表观遗传机制。
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The value of cardiac CT in the diagnosis of unroofed coronary sinus syndrome.心脏 CT 在诊断冠状窦间隔缺损综合征中的价值。
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Rare Variants in Novel Candidate Genes Associated With Nonsyndromic Patent Ductus Arteriosus Identified With Whole-Exome Sequencing.通过全外显子组测序鉴定出与非综合征型动脉导管未闭相关的新候选基因中的罕见变异。
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