Topic:Congenital Disorders
Congenital disorders in horses encompass a range of structural, functional, or metabolic anomalies present at birth. These disorders may arise from genetic mutations, environmental factors, or a combination of both, affecting various systems in the equine body. Common congenital disorders in horses include cleft palate, umbilical hernias, and limb deformities. The diagnosis and management of these conditions require a multidisciplinary approach involving veterinary genetics, surgery, and rehabilitation. This page compiles peer-reviewed research studies and scholarly articles that explore the etiology, diagnosis, and management strategies for congenital disorders in equine medicine.
Gestation length is associated with early-life limb deformities in Thoroughbred foals. Flexural and angular limb deformities (LD) are an important cause of early-life morbidity and mortality/euthanasia in Thoroughbred foals. The majority are congenital in origin but, to date, their precise aetiology is poorly understood. We hypothesised that maternal- and pregnancy-level factors, particularly those with potential to influence in-utero growth and development, could play an important role. The aim of this study was therefore to investigate associations between such factors and early-life LD in Thoroughbred foals. A birth cohort was established on seven farms across the United King...
Congenital, Inherited Bilateral Amastia in a Quarter Horse Mare. Congential amastia, a medical condition in which mammary tissue fails to develop, was detected in a 3-year-old Quarter Horse mare. The dam of the mare was also afflicted with amastia, suggesting that the condition was due to an inherited genetic mutation as noted in other species. In addition, on presentation the mare had a purulent vaginal discharge secondary to a pyometra.
Morphology of the Ventral Process of the Sixth Cervical Vertebra in Extinct and Extant Equus: Functional Implications. In this study, we examined the ventral process of C6 in extinct and extant (sister taxa to only) with the purpose of describing normal morphology and identifying anomalous variations relevant to recent studies describing a congenital malformation in . Overall, 83 specimens from 9 museums and 3 research/educational facilities were examined, totalling 71 extinct specimens from 12 species and 12 extant specimens from 5 species. The lateral view revealed that a large convexity exists in the ventral process between the cranial ventral tubercle (CrVT) and the caudal ventral tubercle (CVT) in the e...
Bilateral patellar aplasia in a foal. A 2-day-old Cleveland Bay colt was referred to the Equine Emergency Service of the Farm Animal and Equine Veterinary Medical Center at North Carolina State University's College of Veterinary Medicine for evaluation of decreased nursing behaviour and right hindlimb lameness of 2 days' duration. When assisted to stand, the foal was unable to extend either hindlimb or bear weight on the hindlimbs, the right patella was luxated laterally and unable to be reduced, and the foal assumed a crouched position. Stifle radiographs revealed minimal, heterogeneous, ill-defined ossification of both patellae....
Mid-term performance of decellularized equine pericardium in congenital heart surgery. The aim was to report mid-term performance of decellularized equine pericardium used for repair of various congenital heart defects in the pediatric population. Methods: A retrospective review of all patients undergoing patch implantation between 2016 - 2020 was performed. Patch quality, surgical handling, hemostasis and early patch-related complications were studied on all patients. Mid-term performance was observed in patients with ≥12 months follow-up and intact patch at discharge (without reoperation/stent implantation). Results: A total of 201 patients with median age of 2.5 years [inte...
Neurologic Disorders of the Foal. Neurologic disease of foals is a diagnostic and therapeutic challenge for veterinarians. Disease conditions such as neonatal encephalopathy are seen as well as developmental and congenital defects, bacterial infections, and trauma. Neonatal encephalopathy can be considered a "syndrome" with a variety of causes resulting in a similar clinical presentation. These causes can be categorized as maladaptation, hypoxic/ischemic encephalopathy, and metabolic abnormalities, all leading to signs of cerebral and brainstem disease. Spinal cord signs may occasionally be seen, but these signs are usually ov...
Complex central nervous system malformations in a Dutch Warmblood foal. A neonatal Dutch Warmblood colt was evaluated for inability to stand, incoordination and intention tremor. Despite partial improvement in clinical signs during the first 4 days of hospitalization, neurological deficits remained. Magnetic resonance imaging identified a unilateral infratentorial arachnoid cyst-like lesion with ipsilateral compression and displacement of the cerebellar hemisphere, absent corpus collosum, polymicrogyria, suspect leukoencephalopathy, and noncompressive occipitoatlantal malformation. Improvement in clinical signs during the first 6 months of life suggests that ho...
The Second Case of Non-Mosaic Trisomy of Chromosome 26 with Homologous Fusion 26q;26q in the Horse. We present cytogenetic and genotyping analysis of a Thoroughbred foal with congenital neurologic disorders and its phenotypically normal dam. We show that the foal has non-mosaic trisomy for chromosome 26 (ECA26) but normal 2n = 64 diploid number because two copies of ECA26 form a metacentric derivative chromosome der(26q;26q). The dam has normal 64,XX karyotype indicating that der(26q;26q) in the foal originates from errors in parental meiosis or post-fertilization events. Genotyping ECA26 microsatellites in the foal and its dam suggests that trisomy ECA26 is likely of maternal origin and tha...
Retrospective analysis of post-mortem findings in Thoroughbreds aged from birth to 18 months presented to a UK pathology laboratory. Enhanced understanding of reasons for, and timings of, mortality in Thoroughbreds prior to entering race training is warranted to provide insight into this population's health status. The aims of this study were to describe pathologies diagnosed at post-mortem (PM) examination in Thoroughbreds aged from birth to 18 months and investigate associations between age and pathology. Reports from a pathology laboratory in Newmarket, UK, were used to identify eligible cases examined between January 2006 and December 2020. Reported pathologies were extracted and categorised where appropriate. Comorbidi...
Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus. Holoprosencephaly is a central nervous system malformation, characterized by incomplete or total lack of division of prosencephalon hemispheres, which is commonly accompanied by craniofacial malformations. A 9-month-gestation aborted American Quarter Horse fetus was submitted for postmortem examination. The fetus lacked haircoat and had severe facial malformations including marked shortening/absence of the maxillary, incisive and nasal bones, bilateral anophthalmia, and pre-maxillary agenesis. The prosencephalon was small and nearly spherical, represented by a single lobe, with no visible sepa...
Equine Pulmonary Agenesis and Hypoplasia Associated With Diaphragmatic Herniation. Pulmonary malformations are rare equine congenital anomalies. Over a 3-year timeframe, three cases of left sided pulmonary agenesis were diagnosed in perinatal foals. All three cases were associated with concurrent ipsilateral diaphragmatic herniation and hypoplasia of the right lung lobe. All three foals died immediately following parturition due to perinatal asphyxia associated with the congenital malformations. To the author's knowledge, this is the first report of pulmonary agenesis in the horse.
Retinal detachment secondary to vitreoretinopathy in two closely related warmblood horses. To describe the clinical, diagnostic imaging, and histopathological findings of two visually impaired closely related horses and to identify a possible cause. Methods: Two warmblood horses, with a common dam and sire, were presented to the ophthalmology department of Liège for investigation of impaired vision. Information collected included physical and ophthalmic examination findings, results of ocular ultrasound, electroretinogram, magnetic resonance imaging (MRI), and histopathology. Ophthalmic examination, ocular ultrasound and MRI revealed a complete retinal detachment (RD) in the left e...
Multiple Congenital Ocular Anomalies in a silver coat Missouri Fox Trotter stallion. This is the first description of Multiple Congenital Ocular Anomalies (MCOA) in a silver coat Missouri Fox Trotter determined to be heterozygous for the Silver PMEL17 missense mutation associated with MCOA and a silver coat in other breeds. The stallion was treated for meningoencephalitis and bilateral uveitis of unknown origin. A complete ophthalmic examination and ocular ultrasonography were performed. As an incidental finding, the patient exhibited bilateral cystic lesions restricted to the temporal anterior uvea consistent with the Cyst phenotype and was genotyped heterozygous for the Silv...
Segmental Cervical Aplasia in a Colombian Creole Mare with Mosaic X-Chromosome Aneuploidy. A 4-year-old Colombian Creole mare was presented for diagnosis because the external orifice of her cervix was not detectable when a uterine lavage as therapy for uterine fluid accumulation was attempted. Clinical and ultrasonographic evaluation of the genital tract revealed that ovaries were of normal size and showed structures suggestive of regular ovarian activity. However, granular free-floating fluid material distending the uterus was detected by ultrasound. Upon vaginal examination, the normal external cervical morphology was not evident. The vagina ended in a blind bag with a small papil...
Nicotinic acid supplementation at a supraphysiological dose increases the bioavailability of NAD+ precursors in mares. NAD deficiency has recently been linked with increased occurrences of congenital abnormalities and embryonic death in human and animal subjects. Early embryonic death is a major component of pregnancy loss in mares and very little is known regarding the requirement for NAD in horses. The aim of this study was to quantify NAD and its metabolites in the plasma and urine of mares after orally administering an acute dose of nicotinic acid and determine the absorption, metabolism and excretion of this essential precursor for NAD biosynthesis. Nicotinic acid (5 g per os) was administered to four ma...
Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings. Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects. Large-scale cytogenetic surveys show that almost 30% of horses with reproductive or developmental problems have chromosome aberrations, whereas abnormal karyotypes are found in only 2-5% of the general population. Among the many chromosome abnormalities reported in the horse, most are unique or rare. However, all surveys agree that there are two recurrent c...
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 abno...
Syndromic clubfoot beyond arthrogryposis and myelomeningocele: orthopedic treatment with Ponseti method. Talipes equinovarus or clubfoot is a congenital deformity of the foot with bone, muscle, and tendon involvement. It's one of the most frequent foot malformations in pediatric orthopedics. Although generally idiopathic, it may have a syndromic cause and be associated with musculoskeletal, neurological, or connective tissue conditions. The treatment of choice in idiopathic clubfoot is the Ponseti method based on manipulation and fixation with serial casts that seek progressive correction of the deformity. The Ponseti method effectiveness has been demonstrated in arthrogryposis and myelomeningoce...
Redundant mesocolonic mesentery in a Shire colt. An unusual condition in a 3-month-old Shire colt presented for colic unresponsive to medical therapy is documented in this report. A redundant mesocolonic mesentery resulting in intestinal displacement and volvulus was diagnosed during exploratory celiotomy. The finding was presumed to be congenital, resulting in a loose anatomic configuration that predisposed the intestine to displacement, torsion, volvulus, and entrapment. Key clinical message: This case demonstrates that congenial anatomical anomalies should be included in the differential of younger animals presented for recurrent conditio...
Two Novel Cases of Autosomal Translocations in the Horse: Warmblood Family Segregating t(4;30) and a Cloned Arabian with a de novo t(12;25). We report 2 novel autosomal translocations in the horse. In Case 1, a breeding stallion with a balanced t(4p;30) had produced normal foals and those with congenital abnormalities. Of his 9 phenotypically normal offspring, 4 had normal karyotypes, 4 had balanced t(4p;30), and 1 carried an unbalanced translocation with tertiary trisomy of 4p. We argue that unbalanced forms of t(4p;30) are more tolerated and result in viable congenital abnormalities, without causing embryonic death like all other known equine autosomal translocations. In Case 2, two stallions produced by somatic cell nuclear tran...
Malunion of an In Utero Metacarpal Fracture in a Standardbred Mare Presenting for Dystocia. In utero fracture and malunion of long bones is a rare condition in horses. Most foals with in utero fractures are aborted, and the identification of a fetal in utero fracture in a mare with dystocia has not been reported. A 7-year-old multiparous Standardbred mare presented to a referral center for correction of dystocia. Assisted vaginal delivery and controlled vaginal delivery attempts were unsuccessful mainly because of contracted tendons impeding mutation. As the foal was alive, a cesarean section was elected. The foal was delivered but ultimately euthanized because of the congenital abno...
An atypical presentation of a mesenteric Meckel’s diverticulum in a 7-year-old warmblood mare: case report. Meckel's diverticula are a rare cause of small intestinal strangulation, diagnosed at laparotomy or necropsy. This congenital anomaly of the gastrointestinal tract originates from a remnant of the vitelline duct. In reported equine cases, they present as a full-thickness diverticulum on the antimesenteric border of the distal jejunum or proximal ileum. Methods: On laparotomy a Meckel's diverticulum positioned at the mesenteric side was found to be the cause of small intestinal strangulation. This position is very uncommon and to the best knowledge of the authors there is no unambiguous descrip...
Congenital Osteoma of the Frontal Bone in an Arabian Filly. Congenital frontal osteoma has not been previously described in horses. This report records-for the first time-a congenital osteoma of the frontal bone in a 4-month-old Arabian filly. The filly had a frontal hard mass that was present at birth and then showed a slow and continuous growth. This mass appeared as a solitary, painless, oval dense tumor of compact bone, about 2 cm in diameter and 3 cm in length. The tumor was asymptomatic, and the skin over the mass was normal. Radiography revealed a well-defined oval, radio-dense mass projecting from the surface of the right frontal bone with no...
Genetics of Equine Ocular Disease. Horses perform in a variety of disciplines that are visually demanding, and any disease impacting the eye has the potential to threaten vision and thus the utility of the horse. Advances in equine genetics have enabled the understanding of some inherited ocular disorders and ocular manifestations and are enabling cross-species comparisons. Genetic testing for multiple congenital ocular anomalies, congenital stationary night blindness, equine recurrent uveitis, and squamous cell carcinoma can identify horses with or at risk for disease and thus can assist in clinical management and breeding dec...
Real-time three-dimensional (3D) echocardiographic characterisation of an atrial septal defect in a horse. Atrial septal defects have been well reported in humans and dogs and the principles of intervention have been well established. In contrast, there is very little information published about these congenital anomalies in horses. True ASDs are regarded as rare and little is known about the clinical significance of these defects in horses. An 11-year-old Thoroughbred gelding with a history of poor performance was diagnosed with an atrial septal defect, measuring approximately 2 cm in diameter, on 2D transthoracic echocardiography. Real-time three-dimensional (3D) echocardiography was used to map...
Ascending aortic aneurysm associated with tetralogy of Fallot in an adult mare. Congenital heart disease is relatively uncommon in horses. Only three reports exist that describe a tetralogy of Fallot in adult horses. Whereas in humans the presence of congenital heart disease constitutes a risk factor for developing aortic aneurysms, their association has never been reported in horses. Here, we present a case with a large ascending aortic aneurysm as a complication of a tetralogy of Fallot in an adult mare. The mare was referred with sustained tachycardia and a 5 days history of mild intermittent colic, depression, inappetence and weight loss. Echocardiography was used to...
A retrospective histologic study of 140 cases of clinically significant equine ocular disorders. Ocular diseases are an important category in equine medicine; however, most articles regarding histologic ocular lesions in horses are exclusive to a specific condition and do not provide a complete review of clinically significant ocular disease frequency in a diagnostic laboratory. We reviewed sections of equine eyes from 140 cases (98 enucleations [biopsies] and 42 autopsies) with clinically relevant ocular alterations at 2 diagnostic centers in the United States. The most common primary conditions were non-traumatic keratitis (36), equine recurrent uveitis (ERU; 31), traumatic injuries (22...
Congenital phimosis causing preputial swelling in a newborn foal. An 18-hour-old colt was presented for abdominal discomfort, preputial swelling, and frequent posturing to urinate. Examination of the scrotum confirmed 2 testes and no scrotal or inguinal hernia. Transabdominal ultrasound identified a distended bladder and no free fluid in the peritoneal cavity. Inspection of the preputial cavity revealed that the internal lamina of the prepuce was mostly attached to the glans penis. The preputial cavity was lubricated and manual traction was applied to detach the internal lamina of the prepuce from the glans penis. The colt urinated spontaneously 1 hour after...