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Double inlet left ventricle (DILV) is a rare congenital cardiac anomaly characterized by a functionally univentricular atrioventricular connection, in which most or all atrial inflow is directed to the dominant, morphologic left ventricle via either two separate atrioventricular valves or a common atrioventricular valve. The second ventricle is typically a rudimentary (incomplete) morphologic right ventricle. While well-documented in humans, the occurrence of DILV in veterinary medicine remains poorly studied. This report describes a male European bison ( Bison bonasus ) that survived for 12 years with DILV and additional cardiac malformations. Surprisingly, despite the severity and complexity of these defects, the animal was culled for reasons unrelated to cardiac disease. A complete field necropsy was performed, but only the heart was subjected to further investigation. Due to specimen disruption, the heart was reconstructed with the assistance of pediatric cardiac surgeons and analyzed using post-mortem computed tomography imaging, which provided valuable insights into its anatomical structure and spatial relationships. This case highlights the importance of integrated pathology and advanced imaging in congenital heart disease, while acknowledging the practical limitations of ante-mortem investigations in free-ranging animals.

Pectus excavatum, thoracic spine deformities, tracheal hypoplasia and lateral heart displacement are frequently described in brachycephalic dog breeds. Pectus carinatum is described sporadically, although the authors' observations demonstrate that it may occur in certain brachycephalic dog breeds. It was hypothesised that dogs of screw-tailed brachycephalic breeds carry a greater risk of these anomalies than normal-tailed brachycephalic breeds, and that there could a relation between the presence of pectus excavatum or pectus carinatum and thoracic spine deformities, tracheal hypoplasia and lateral heart displacement. During retrospective studies, these anomalies were identified in lateral and dorso-ventral radiographs of the thorax in brachycephalic dog breeds. A statistical analysis revealed that the frequency of pectus excavatum occurrence in screw-tailed and normal-tailed brachycephalic dog breeds is similar. The greatest risk of pectus excavatum occurrence is carried by two breeds: Maltese (60%) and English Bulldog (58%), while for pectus carinatum: Pug (41%) and French Bulldog (18%). Dogs of screw-tailed brachycephalic breeds carry a greater risk of kyphosis (p < 0.0001), tracheal hypoplasia occurrence (p < 0.0001), compared to \"normal-tailed\" breeds. The hypothesis concerning a relation between the presence of pectus excavatum or pectus carinatum and the other anomalies studied was not confirmed (p > 0.05). It was demonstrated that in dogs of brachycephalic breeds there was a greater risk of co-incidence between kyphosis of the thoracic spine and lateral heart displacement (p = 0.038), as well as kyphosis of the thoracic spine and tracheal hypoplasia (p = 0.003).

Background Ventricular septal defects (VSDs) are the most common congenital cardiac defect in horses. Objectives To identify prevalence, age, breed, and sex distribution of VSD and to describe associated clinical and ultrasonographic findings. Animals Hospital‐based population of 21 136 horses presented to the equine internal medicine department. Methods Medical records over a 12‐year period were reviewed for VSD confirmed by ultrasonography. Age, breed, sex, sport discipline, murmur, clinical signs, outcome, VSD type, VSD size, shunt velocity, cardiac dimensions, concomitant cardiac anomalies, and valvular regurgitations were recorded. Results From 1894 horses that underwent echocardiography, 54 had a VSD: 42 as an isolated lesion and 12 as part of complex congenital heart disease (CHD). Median age was 5 years (range, 0‐26) and 1 year (range, 0‐8), respectively. Warmbloods and males were overrepresented. In the isolated VSD group, only 15% had associated clinical signs and most horses had a perimembranous VSD (pmVSD; 36/42). Horses with a pmVSD and clinical signs showed a significantly lower maximal shunt velocity (3.77 vs 5.20 m/s; P < .001), higher VSD/Aortic root (Ao) diameter (0.52 vs 0.38; P = .05), higher left atrium/Ao diameter (1.94 vs 1.22; P < .001), and higher pulmonary artery/Ao diameter (1.15 vs 0.88; P = .005) compared to horses without clinical signs. All horses with complex CHD had clinical signs and abnormal cardiac dimensions. Conclusion and Clinical Importance Most isolated VSD were diagnosed only at a later age and were not associated with clinical signs. Horses with complex CHD were more likely to have or develop clinical signs at younger age.

Limited data are available on the causes of hydrops fetalis in dogs. Congenital heart defects may be an important contributing factor. Standard autopsy often fails to provide a comprehensive and accurate diagnosis on very small hearts. This study was carried out on five French bulldog puppies all presenting with advanced hydrops fetalis and four diagnosed with pulmonary hypoplasia at autopsy. The body weight of the dogs ranged from 142 to 687 g and the heart with lungs weighed from 4.5 to 23.6 g. The hearts and pulmonary vessels were filled with barium contrast, and micro-CT scans of the physiologically connected heart and lungs were performed. In all five puppies, we confirmed congenital heart defects including: Puppy #1. Perimembranous ventricular septal defect and aortic dextroposition; Puppy #2. Interrupted aortic arch with aortic valve dysplasia and aortic stenosis; Puppy #3. Tricuspid valve dysplasia and bicuspid pulmonary trunk valve; Puppy #4. Aortic stenosis and ventricular septal defect; Puppy #5. Tricuspid valve dysplasia. Additionally, four puppies had pulmonary vascular hypoplasia. Contrast-enhanced micro-CT can provide highly accurate diagnosis of complex congenital heart and lung defects. Examination of the heart in conjunction with the lungs appears to be a rational approach in animals with hydrops fetalis.

Background Hydrops fetalis (HF) is fluid accumulation in fetus body cavities and subcutaneous tissue. The condition has been described in various farm and companion animal species, including dogs. Most of cases result from a heart defect. Exact nature of this defect is rarely clarified. Case presentation A newborn, male French bulldog puppy with severe HF underwent a full anatomopathological examination to diagnose the primary cause of HF. Based on the anatomopathological examination, fetal ultrasound, and micro-computed tomography, transposition of the great arteries with hypoplasia of the ascending aorta, aortic arch interruption, ostium secundum atrial septal defect, severe tricuspid valve dysplasia, as well as hypoplasia of pulmonary vessels and lungs were diagnosed. Conclusions This is the first report of HF caused by severe, complex congenital heart defects with concurrent pulmonary vessel and lung hypoplasia.

Congenital heart disease (CHD) is an important subset of all cardiovascular diseases in dogs. Among them, there are a number of other less commonly described congenital malformations. One of these is the atrioventricular canal, which involves a defect that has several phenotypes. This report details a case of a complete atrioventricular canal (cAVC) defect. Using Rastelli’s classification scheme, the diagnosis of a type-A cAVC defect was based on two-dimensional, contrast, and color Doppler echocardiography. Despite a severe defect that resulted in the atypical anatomy of the atrioventricular apparatus, as well as significant hemodynamic changes in the heart, the affected dog remained asymptomatic throughout the 48-month follow-up period. Due to its stable clinical condition, the decision was made not to begin pharmacological therapy. As this defect is rare in dogs, there are limited data in the literature on this condition. Therefore, in clinical practice, the management and monitoring of the patient may pose difficulties. Due to such limited data, it can be very difficult to provide a prognosis. For the above reasons, we hope that the following case will contribute valuable information for the monitoring of this kind of CHD.

Background Transesophageal echocardiography (TEE) is useful in the assessment and procedural monitoring of congenital heart disease (CHD) with a relatively low complication rate in humans. Objectives To evaluate the safety of TEE and report complications in dogs. Animals Forty client‐owned dogs with CHD. Methods Prospective observational study including gastroesophagoscopy before and after TEE imaging. TEE was planned with a GE 6VT‐D adult probe in dogs weighing ≥4 kg and a GE 10T‐D microprobe alternating with an intracardiac echocardiography probe placed in the esophagus in dogs <4 kg. Difficulties with probe placement, probe interference and TEE probe imaging times were recorded. Dogs were monitored in the recovery period after TEE using an established nausea scoring system. Results New gastroesophageal abnormalities were identified after TEE in 4 dogs including 4 areas of mucosal damage involving <25% of the lower esophageal sphincter (n = 4) and 1 lesion at the heart base (n = 1) and were not attributed to longer imaging times or a specific probe. Lesions identified before TEE in 4 dogs remained unchanged after TEE. The 6VT‐D probe could not be placed in 1 dog with enlarged tonsils, and it obstructed fluoroscopic views in 3 dogs. The probes did not compress any structures in dogs in which fluoroscopy was performed (n = 20). Four dogs had evidence to suggest nausea after the procedure. Conclusions and Clinical Importance While major complications remain possible, complications in this study were mild and few in number. Dog size and probe characteristics are factors to consider when performing TEE.

Background Congenital anomalies of the aortic arch are important as they may be associated with vascular ring anomalies. The most common vascular ring anomaly in dogs is a persistent right aortic arch. However, published data of the distribution of the different types of vascular ring anomalies and other aortic arch anomalies are lacking. The objective of this retrospective descriptive study was to evaluate both the prevalence and the different types of aortic arch anomalies that can be detected using thoracic computed tomography (CT) examination. Archived thoracic CT examinations acquired between 2008 and 2020 at a single institution were retrospectively evaluated by 2 evaluators for the prevalence and type of aortic arch anomaly. Breed, age, and presenting complaint were obtained from the medical record system. Results A total of 213 CT studies were evaluated; 21 dogs (21/213, 9.9%) showed a right aortic arch and a left ligamentum arteriosum with compression of the esophagus. The following incidental additional findings were detected: aberrant left subclavian artery (17/21, 76.2%), branching from the persistent ductus arteriosus (PDA) (1/21, 4.8%), left-sided brachiocephalic trunk (3/21, 14.3%), bicarotid trunk (17/21, 81.0%), double aortic arch (1/21, 4.8%). One hundred ninety two dogs (192/213, 90.1%) showed a left aortic arch without esophageal compression. The following additional abnormalities were obtained in those dogs with left aortic arch: aberrant right subclavian artery (3/192, 1.6%) without clinical signs of esophageal compression, aberrant vessel branching from the aorta into the left caudal lung lobe (2/192, 1.0%), focal dilatation of the left or right subclavian artery (2/192, 1.0%), bicarotid trunk (1/192, 0.5%). Conclusion Similar to previous studies an aberrant left subclavian artery is the most common additional finding in dogs with persistent right aortic arch. Newly, a left-sided brachiocephalic trunk was identified in 14.3% of the dogs with a persistent right aortic arch; no additional compression was caused by the left sided brachiocephalic trunk. Similarly, aberrant right subclavian artery can be an incidental CT finding without causing compression of the esophagus.

Kleefstra syndrome in humans is characterized by a general delay in development, intellectual disability and autistic features. The mouse model of this disease (Ehmt1±) expresses anxiety, autistic-like traits, and aberrant social interactions with non-cagemates. To investigate how Ehmt1± mice behave with unfamiliar conspecifics, we allowed adult, male animals to freely interact for 10 min in a neutral, novel environment within a host-visitor setting. In trials where the Ehmt1± mice were hosts, there were defensive and offensive behaviors. Our key finding was that Ehmt1± mice displayed defensive postures, attacking and biting; in contrast, wild-type (WT) interacting with other WT did not enact such behaviors. Further, if there was a fight between an Ehmt1± and a WT mouse, the Ehmt1± animal was the most aggressive and always initiated these behaviors.

Congenital heart disease (CHD) is observed in up to 1% of live births and is one of the leading causes of mortality from birth defects. While hundreds of genes have been implicated in the genetic etiology of CHD, their role in CHD pathogenesis is still poorly understood. This is largely a reflection of the sporadic nature of CHD, as well as its variable expressivity and incomplete penetrance. We reviewed the monogenic causes and evidence for oligogenic etiology of CHD, as well as the role of de novo mutations, common variants, and genetic modifiers. For further mechanistic insight, we leveraged single-cell data across species to investigate the cellular expression characteristics of genes implicated in CHD in developing human and mouse embryonic hearts. Understanding the genetic etiology of CHD may enable the application of precision medicine and prenatal diagnosis, thereby facilitating early intervention to improve outcomes for patients with CHD.