Hydrops fetalis caused by a complex congenital heart defect with concurrent hypoplasia of pulmonary blood vessels and lungs visualized by micro-CT in a French Bulldog.

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.

64-Slice ECG-gated computed tomographic angiography for assessment of coronary arteries in brachycephalic dogs with pulmonary stenosis.

BACKGROUND: Brachycephalic dogs with pulmonary stenosis are known to have a higher incidence of concurrent coronary artery abnormalities than non-brachycephalic breeds, which increases risk when performing balloon valvuloplasty. The use of ECG-gated CT angiography has been reported for the evaluation of coronary arteries in normal dogs and dogs with pulmonary stenosis. The purpose of this study was to report findings of coronary artery origination and morphology of main branches using ECG-gated CT angiography in brachycephalic dogs with pulmonary stenosis. METHODS: An ECG-gated CT angiographic protocol was used to image coronary artery anatomy in nine brachycephalic dogs with pulmonary stenosis. Images were assessed for quality as well as coronary artery morphology by one veterinary radiologist, one veterinary cardiologist and one veterinary radiology resident. RESULTS: All nine dogs had good to excellent image quality. Coronary artery anomalies were identified in three of nine dogs: one R2A anomaly, one L2A anomaly and one L2C anomaly. Two dogs were assessed to be poor balloon valvuloplasty candidates based on CT angiographic images. LIMITATION: Coronary artery morphology was not confirmed via postmortem examination in all patients. CONCLUSION: ECG-gated CT angiography is a minimally invasive imaging modality capable of diagnosing various coronary artery anomalies in brachycephalic dogs with pulmonary stenosis and aiding in the determination of patient candidacy for balloon valvuloplasty.

Cor triatriatum sinister with dextrocardia in association with ostium secundum atrial septal defect, subpulmonary ventricular septal defect and bicuspid pulmonary valve in a pig.

Necropsy of a 52-day-old Camborough pig revealed numerous cardiac malformations. The positional relationship of the atria, ventricles and great vessels was a mirror image type (I, L and L): inverted arrangement of the atria, with a left-sided right atrium and right-sided left atrium (situs inversus); inverted arrangement of the ventricles, with a left-sided morphological right ventricle and right-sided morphological left ventricle (L-loop); and aortic valve to the front left relative to the pulmonary valve (L-malposed). The major malformations included an ostium secundum atrial septal defect, cor triatriatum sinister (CTS), a subpulmonary ventricular septal defect and a bicuspid pulmonary valve. Histological examination revealed myocyte hypertrophy, focal myocardial necrosis and calcification in the left morphological right ventricle of the heart. To the best of our knowledge, this is the first report of CTS in pigs. Although the individual malformations found in the present case are not unique, an unusual combination of these cardiac malformations has not been described in animals.

Giant right atrial aneurysm associated with persistent left cranial vena cava in a cat.

A 10-month-old female spayed Scottish Fold was referred to cardiology for incidental radiographic cardiomegaly. Echocardiography was suspicious for a right atrial or right auricular aneurysm. The differential diagnosis also included peritoneal-pericardial diaphragmatic hernia, mass lesion (cyst, granuloma, or neoplasia), or cardiac malformation. A giant right atrial aneurysm associated with a persistent left cranial vena cava was subsequently confirmed with computed tomography.

Male pseudohermaphroditism in a complex malformed calf born with an acardius amorphus cotwin-a case report.

BACKGROUND: Male pseudohermaphroditism is a developmental anomaly wherein animals are genetically and gonadally male, but their internal and/or external genitalia resemble those of females. In cattle, pseudohermaphroditism is often accompanied by multiple severe malformations. To the best of our knowledge, this is the first report of male pseudohermaphroditism in a complex malformed calf born with an acardius amorphous cotwin. CASE PRESENTATION: This report describes the case of a three-day-old, male anurous Japanese Black calf born with an acardius amorphous cotwin, complete absence of the tail, agenesis of the anus, separate scrota, and umbilical hernia. Transthoracic echocardiography and computed tomography revealed serious malformations in the skeletal system and the circulatory, digestive, urinary, and genital organs. Necropsy revealed rectal atresia, immature testes, epididymis, and penis, but no male accessory gonads. Histological analyses revealed vaginal- and uterine-like tissues adjacent to or fused to the rectum. Fluorescence in situ hybridization detected X and Y chromosomes, and some cells presented two X-probe signals in the same nucleus. CONCLUSIONS: In contrast to the male genitalia, the female genitalia derived from the Müllerian ducts were difficult to detect by necropsy in the presented case. Many similar cases may be overlooked in clinical practice.

Cardiac Disease and Screening in Breeding Dogs.

Acquired and congenital heart diseases are relatively common in dogs, particularly in certain breeds. Modes of inheritance and genetic causes have been established for several cardiac diseases within various breeds. Breed screening is used to try and reduce the prevalence of certain canine cardiac diseases. Although breed screening seems to help reduce the prevalence of canine heart disease, the outcomes of specific breeding programs are variable and depend on multiple factors.

Insights into the genetic architecture of congenital heart disease from animal modeling.

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.

A retrospective study of congenital cardiac malformations in 29 goats.

Cardiac malformations are sporadically diagnosed in domestic species; however, little literature is available for this group of developmental anomalies in goats. We performed a retrospective study to catalog congenital cardiac conditions in goats submitted to the University of California-Davis, Veterinary Medical Teaching Hospital, Anatomic Pathology Autopsy Service. From 2000 to 2021, of 1,886 goat autopsies, 29 cases of cardiac malformations were identified (1.5%). Thirteen were ≤ 2-wk-old, 8 were 1-6-mo-old, and 8 were adults 2-9-y-old. The most common malformations were ventricular septal defect (VSD; 21 of 29), atrial septal defect or persistent foramen ovale (10 of 29), and double-outlet right ventricle (3 of 29). Nine cases had > 1 malformation, typically including a VSD. Conditions that had not been reported in the goat included double-outlet right ventricle (3), tetralogy of Fallot (1), cor triatriatum sinister (1), and mitral valve dysplasia (1). Two adult cases were incidental and not suspected clinically. Cardiac malformations occur not uncommonly in goats and should be considered in a wide age range.

Defensive and offensive behaviours in a Kleefstra syndrome mouse model.

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.

Echocardiographic changes in the progress of reverse shunt and improvement to left-to-right shunt after medical treatment in dogs with bidirectional patent ductus arteriosus or ventricular septal defect: A report of two cases.

Two Maltese dogs were referred for evaluation of a congenital heart disease: one was diagnosed with patent ductus arteriosus and the other was diagnosed with a ventricular septal defect. The PDA patient was diagnosed with congenital heart disease 2 weeks ago and the VSD patient about 11 months ago at another hospital. Echocardiographic findings revealed a bidirectional shunt condition, and the dogs were treated with medical management using sildenafil and oxygen inhalation. After medical management, the dogs returned to clinically normal conditions, and echocardiographic findings revealed a return to left-to-right shunt tendency. These dogs had no clinical signs associated with heart disease 3 years after treatment. This case report describes changes in echocardiography findings according to the progression of the reverse shunt and the possibility of improvement to a left-to-right shunt after medical treatment.

Transthoracic echocardiography and its limitations in the diagnosis of congenital supernumerary aortic valve in a Thoroughbred.

Aortic valve malformation is a common congenital abnormality reported in human medicine. The malformation is characterised by an increased or decreased number of cusps. Anatomical variations of the aortic valve that have been documented in humans include unicuspid, bicuspid, quadricuspid and quinticuspid valves. Two reports described a quadricuspid aortic valve in horses associated with either a ventricular septal defect (VSD) or tetralogy of Fallot. In this case report we describe the clinical and echocardiographic findings of a horse with a quadricuspid aortic valve as single congenital abnormality, referred with history of exercise intolerance and an episode of paroxysmal atrial fibrillation. Limitations and risks of misdiagnosis that can be encountered with transthoracic echocardiography are also discussed. The reported case highlights the importance of echocardiographic screening in asymptomatic patients as congenital heart disease can be present without obvious cardiac signs. As advanced imaging on the equine thorax is still far from future possibilities for adult horses, this report may help to reach an accurate diagnosis with similar cases.

Right coronary artery to left ventricle coronary cameral fistula in a cat.

A six-month-old female intact domestic shorthair cat was presented for evaluation of a loud heart murmur. Transthoracic echocardiography revealed dilation of the left ventricle secondary to an abnormal vessel shunting blood into the left ventricular outflow tract at a high velocity during diastole. Multidetector computed tomography angiography revealed a coronary cameral fistula that originated at the right coronary artery, encircled the heart, and then terminated into the left ventricular outflow tract. This case report documents the first known case of a coronary cameral fistula in a cat. Multimodal imaging was an essential aspect to diagnosing the congenital lesion in this case.

Feasibility of Echocardiographic Estimation of Pulmonary Artery Stiffness in Horses.

Pulmonary artery stiffness (PAS) is an index of pulmonary artery elasticity that permits to evaluate the pulmonary vascular bed in humans. It can early detect an increase in pulmonary artery stiffness as a consequence of remodeling of the vessel wall caused by chronic pulmonary and congenital heart diseases. This remodeling can occur also in horses with chronic respiratory diseases. Thus, PAS could be a useful echocardiographic parameter also in horses. However, in literature, there are no studies regarding PAS in horses. The aim of this study is to evaluate the feasibility of PAS in horses. Fifteen healthy horses were included in this prospective study. Maximal frequency shift and acceleration time were measured from the pulsed-wave Doppler trace of the pulmonary artery flow, obtained from the right parasternal short-axis view at the level of the pulmonary artery, and then PAS was calculated as the ratio of Maximal frequency shift to acceleration time. The low variability assessed for intra- and inter-observer variability, day-to-day variability and image acquisition variability suggests that PAS can be measured consistently in horses. Further studies could be useful to assess the clinical usefulness of PAS in unhealthy horses, such as those affected by chronic respiratory diseases.

Transmembrane stent placement for cor triatriatum dexter in six dogs.

OBJECTIVES: Report the long-term outcomes following transmembrane stent placement as a therapy for Cor Triatriatum Dexter (CTD). MATERIALS AND METHODS: Retrospective case series including six dogs with CTD treated with transmembrane stent placement. Follow-up information was obtained including the persistence of presenting clinical signs, additional therapies required, and survival. RESULTS: The median follow-up time was 24 months (range 15-76 months). Long-term outcome was deemed excellent in four dogs (67%), good/fair in one dog (17%), and poor in one dog (17%). Three dogs had persistence of clinical signs of variable severity. These three dogs were Labrador Retrievers or their crosses with varying degrees of tricuspid valve dysplasia (TVD), two of which also had a right to left shunting patent foramen ovale (PFO). One of these three dogs died 23 months post-stent placement during attempted open-heart repair of the TVD and PFO. Another is alive 15 months post-operatively stable on medical therapy for right-sided congestive heart failure secondary to TVD. The final dog demonstrated improved but persistent mild exercise intolerance up to 76 months post-operatively associated with mild TVD and a concurrent PFO. CONCLUSIONS: Transmembrane stent placement for CTD is a viable long-term treatment option with improvement or resolution of clinical signs. In the presence of concurrent congenital heart disease, specifically Labradors with TVD, additional therapies may be necessary with a corresponding impact on prognosis.

Anomalous branching of the aortic arch in a dog.

Anomalies in the subclavian and common carotid arteries can be of interest in cases of cranial mediastinal surgeries, as well as to diagnose the cause of oesophageal constrictions leading to clinical signs of dysphagia (dysphagia lusoria). The development and regression of the aortic arches are of key importance in understanding the origin of these type of vascular anomalies. This report describes the congenital anomalous aortic origin of the common carotid and the subclavian arteries in a 14-year-old dog and the plausible developmental pattern failure. Academic dissection revealed a common bicarotid trunk and bisubclavian trunk arising from the most cranial aspect of the aortic arch. Despite the abnormal origin, these vessels displayed a predominantly standard anatomical course. All the anticipated branches were identified and described. Cardiac abnormalities were also noted including right atrial dilation, coronary sinus enlargement, right and left valvular endocardiosis, a patent foramen ovale and marked concentric left ventricular hypertrophy with compensatory left atrial dilation. Additionally, the right recurrent laryngeal nerve demonstrated an aberrant course consistent with a 'non-recurrent laryngeal nerve' (non-RLN). Awareness of the anatomical variations of the aortic arch is important for surgical interventions of the cranial mediastinum as well as radiological interpretation. Although infrequent, the variants similar to the one described here have been reported in different species.

Prospective evaluation of complications associated with transesophageal echocardiography in dogs with congenital heart disease.

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.

Anomalies of the aortic arch in dogs: evaluation with the use of multidetector computed tomography angiography and proposal of an extended classification scheme.

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.

Natural history of subaortic stenosis in 166 dogs (1999-2011).

INTRODUCTION: Subaortic stenosis (SAS) is one of the most common congenital cardiac diseases in dogs. The objective of this study was to provide survival times on a large population of dogs with SAS and to propose a redefined pressure gradient (PG) scale to include a mild, moderate, severe and very severe disease group. ANIMALS, MATERIALS AND METHODS: Dogs were divided into four groups based on the Doppler-derived PG across the stenosis. Disease severity was defined as follows: mild = PG < 50 mmHg; moderate = PG range 50-80 mmHg; severe = PG range 80-130 mmHg; and very severe = PG > 130 mmHg. Over the study period (1999-2011), 166 client-owned dogs were diagnosed with SAS of which 129 had follow-up information available. RESULTS: Unadjusted median survival time for severity groups were as follows: mild 10.6 years; moderate 9.9 years; severe 7.3 years; and very severe 3.0 years. Univariable analysis examining the effect of the PG, age at diagnosis and sex found only the PG and age at diagnosis had a significant effect on survival. Adjusted survival curves showed that the survival time in the very severe group was decreased compared with all other groups. CONCLUSION: Based on the results of this study, a revised SAS classification system with four PG groups is appropriate. Dogs with a PG > 130 mmHg were identified as those with the lowest median survival time.

Focused Canine Cardiac Ultrasound.

Focused cardiac ultrasound (FCU) is a useful point-of-care imaging tool to assess cardiovascular status in symptomatic dogs in the acute care setting. Unlike complete echocardiography, FCU is a time-sensitive examination involving a subset of targeted ultrasound views to identify severe cardiac abnormalities and is performed as part of an integrated thoracic ultrasound including interrogation of the pleural space and lungs. When integrated with other clinical information, FCU can be helpful in the diagnosis of left-sided and right-sided congestive heart failure, pericardial effusion and tamponade, and severe pulmonary hypertension, and can provide estimates of fluid responsiveness in hypotensive dogs.