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.
Familial congenital occipitoatlantoaxial malformation (OAAM) in the Arabian horse. Familial occipitalization of the atlas with atlantalization of the axis was defined as a single congenital disease in Arabian horses following a clinical, radiologic, and morphologic study of 16 horses with congenital malformations of the occiput, atlas, and axis, and from a study of three reported cases. The constant morphologic features were interpreted as congenital atlantooccipital fusion, hypoplasia of the atlas and dens, malformation of the axis, and modification of the atlantoaxial joint. Atlantoaxial subluxation was also a frequent finding. The clinical syndromes shown by these horses ...
Congenital malformation of the large colon causing colic in a horse. An abnormal mesocolic attachment which resulted in a stellate malformation of the left colon adjacent to the pelvic flexure was suspected to be the cause of intermittent episodes of colic in a horse. Resection and side-to-side anastomosis of the large colon at the level of the sternal and diaphragmatic flexures was performed and the horse made an uneventful recovery from surgery. Only minor serum biochemical changes were observed in the initial postoperative period. The abnormal mesocolic attachment was probably a congenital anomaly.
Pulmonary lobar hypertrophy in a foal. Pulmonary lobar hypertrophy was diagnosed in a 4-hour-old Quarter Horse full-term foal that had respiratory arrest shortly after birth. The gross and microscopic appearances were consistent with polyalveolar lobe, a congenital anomaly of human infants.
Bilateral atavistic polydactyly in a colt and its dam. POLYDACTYLY is perhaps the most frequently reported congenital phalangeal anomaly in horses and, with reference to the stallion Boukephalos ridden by Alexander the Great, it has commanded attention since antiquity (Leipold and MacDonald 1971). Polydactylism is defined as the occurrence of a larger number of digits than typical for a certain species. It has been described in horse, cattle, swine, dog, cat, pigeon, poultry and guinea pig as well as in man (Wiesner and Willer 1974). In horses, the supernumerary digit is found in the forelimb in about 80 per cent of cases, and mainly on the medial...
Blind-end atresia coli in two foals. Blind-end atresia coli was observed in two genetically unrelated foals at about the same time and location. The two foals, one an Appaloosa and the other a Quarterhorse, were born 4 days apart on nearby but separate farms. The Appaloosa foal died after surgical anastomosis of the affected segments of the colon. The Quarterhorse foal was euthanized after the defect was found at laparotomy. Both foals were necropsied and representative tissues were examined histopathologically. Histopathologic results were unremarkable. No cause of the defects could be determined and the timing and geographical ...
Phalangeal and navicular bone hypoplasia and hoof malformation in the hind limbs of a foal. Anatomical anomalies in the hind feet of a seven month old Appaloosa foal were identified and investigated through the use of gross anatomical dissection, radiography and angiography. Abnormalities were restricted to the distal aspect of both hind legs, the right hind leg being more severely affected. Anatomically the right foot resembled that of an equine fetus of approximately 120 days gestational age. Disruption of vascular perfusion to hoof structures was evident in both hind legs and was related to areas of abnormal bone conformation as well as to areas of abnormal ossification and calcif...
Atrial septal defect of the persistent ostium primum type with hypoplastic right ventricle in a Welsh pony foal. Valvular competency of the foramen ovale (patent foramen ovale) is regarded as a common finding in the neonatal foal and usually occurs in isolation. True atrial septal defects appear to be uncommon and are usually associated with other congenital cardiac lesions. The present report describes a case of atrial septal defect type 1 (persistent ostium primum) complicated by hypoplastic right ventricle, and tricuspid dysplasia, in a Welsh Mountain pony foal, and discusses the embryogenesis of the abnormality. A critical review of the literature suggests that atrial septal defects may occur more fr...
Inherited nuclear cataracts in the Morgan horse. Congenital cataracts affecting the fetal and embryonal lens nucleus were found in 12 Morgan horses. Ten of the 12 affected animals were sired by the same stallion and the condition also affected his female half sibling. Although females were almost three times more likely to be affected than males (9 vs 3), the difference was not significant. The ratio of 11 normal to 10 affected offspring by the affected stallion is compatible with an autosomal dominant mode of inheritance.
Echocardiography. Diagnostic ultrasound permits the clinician to image the beating heart, quantitate cardiac dimensions, identify specific congenital and acquired cardiac lesions, and estimate the degree of cardiac compensation and muscle failure that accompanies a specific lesion. The M-mode (motion) echocardiogram and two-dimensional echocardiogram are complementary studies that have proved useful for identification of cardiac septal defects, endocarditis, pericardial effusion, intracardiac shunting, cardiomegaly, and heart muscle failure. Appreciation of the technique and basic knowledge of the types of info...
Common ventricle with separate pulmonary outflow chamber in a horse. On the basis of clinical and laboratory examinations, a ventricular septal defect or a variant of the tetralogy of Fallot was suspected in a 3-year-old filly with a history of poor growth rate and exercise intolerance. The filly was euthanatized and found to have a 3-chambered heart (cor triloculare biatriatum). The heart had 2 normally formed atria and a large common ventricle into which the right and left atrioventricular orifices opened and from which the aorta arose. There was a small separate chamber from which the pulmonary trunk originated. This chamber communicated with the common vent...
Cardiovascular disease in the equine neonate. Cardiac disease in the equine neonate occurs infrequently. Murmurs are often heard in foals and are not considered significant unless they persist beyond 4 days of age. Congenital cardiac defects are the most common form of primary cardiac disease in the foal, with ventricular septal defects occurring most frequently. Other neonatal foal diseases such as ruptured bladders, white muscle disease, neonatal respiratory distress syndrome, and septicemia have secondary cardiac involvement.
Exsanguination due to gastric ulceration in a foal. An Arabian foal with a congenital heart disease died due to hemorrhage secondary to a large gastric ulcer. Previously, death of foals with gastric ulcers has been due to diffuse peritonitis resulting from gastric ulcer perforation. The foal in this case report died due to hemorrhage secondary to a large gastric ulcer.
Equine congenital defects. In a 13-year survey of equine congenital defects that resulted in death or required euthanasia in central Kentucky, necropsies were performed on 608 deformed fetuses or newborn foals. The following congenital anomalies were observed: contracted foal syndrome (33.2%), miscellaneous limb contraction (20%), multiple defects (5.3%), microphthalmia (4.6%), craniofacial malformations (4.3%), cleft palate (4.0%), heart defects (3.5%), umbilical defects (3.5%), and hydrocephalus (3.0%). Eleven less frequently occurring anomalies constituted the balance of the congenital defects in fetuses and newborn ...
Spontaneous craniofacial malformations and central nervous system defects in an aborted equine foetus. Developmental defects are rarely reported in the horse. Severe craniofacial and central nervous system defects in an equine foetus are described and their possible causation and pathogenesis are suggested.
Aetiology and pathogenesis of congenital torticollis and head scoliosis in the equine foetus. In 214 cases of severe dystocia in mares, of which 141 (66 per cent) were Draught horses, deviation of the head and neck, with or without torticollis, malformed head and limbs were found to be the cause of dystocia. No evidence of a genetic lethal factor was found and torticollis was often combined with scoliosis of the head and, frequently, with malformation of one or more limbs. This is considered evidence of a common aetiology and pathogenesis of the syndrome of malformation. The malformations were found to be associated with an increased incidence of caudal and, particularly, transverse pr...
A congenital vascular naevus in a foal. This paper describes a case of a congenital vascular malformation in the skin of a colt. The lesion arose at the coronary border of the right hind leg. The microscopic structure of a biopsy suggested that the lesion, consisting of multiple foci of closely-packed convoluted small vessels in the dermis, represented a marked exaggeration of glomi which normally occur in considerable numbers in this region of the skin. On the basis of the clinical, macroscopic and histological findings, this lesion was considered to be an hamartoma, rather than a true tumour, and was therefore termed a congenital ...
Hypoplastic left ventricular syndrome in a foal. A necropsy diagnosis of hypoplastic left ventricular syndrome was made in a day-old foal. The cardiac abnormalities included mitral and aortic valve atresia, patent ductus arteriosus, and a secundum atrial septal defect. The left ventricle was hypoplastic and nonfunctional. The brief survival of the foal was a consequence of left-to-right shunting through the atrial septal defect and right-to-left shunting through the patent ductus. The information is presented to demonstrate the existence of the syndrome as a congenital defect in the horse and to clarify the necropsy findings for the practiti...
Congenital phalangeal hypoplasia in Equidae. Three cases of unilateral congenital phalangeal hypoplasia are described in 2 horses and 1 mule. Radiographic lesions include severe hypoplasia of the 3rd phalanx, and associated hypoplasia of the 2nd phalanx in 2 cases, and hypoplasia or aplasia of the navicular bone in 2 cases. All animals could ambulate but were lame. Two cases had palpable laxity at the level of the coronary band. Documented etiology was not determined for the dysgenesis, but possibilities include inherited transmission or an environmental teratogen.
Congenital nuclear cataracts in the Morgan horse. Nuclear cataracts were found in 2 groups of related Morgan horses. The cataracts were finely reticulated central spherical translucencies that sometimes extended to the region of the posterior "Y" suture. The cataracts were not associated with other ocular defects and did not impair vision. In 1 group of 8 horses, 5 were affected; in the other group, 6 of 8 were affected. Although a pattern of inheritance could not be determined, the familial distribution of the cataracts supported the conclusion that the defect was a heritable disorder.
Neuromuscular arthrogryposis multiplex congenita in a thoroughbred foal. Arthrogryposis multiplex congenita was studied in a newborn thoroughbred foal. The syndrome affected only the left hind limb allowing the right hind limb to serve as a reference. There was a significant depletion of large motor neurons from the ventral horn of the spinal cord from L3 to S4 on the affected side. Hypoplasia of nerves, muscles, and bones was present in the affected limb. Histologically, hypoplasia and degeneration of myofibers and nerve bundles were seen. No cause of the syndrome, which corresponds to most human cases, was determined. Neuromuscular arthrogryposis was diagnosed be...
A giant congenital pigmented nevus in a horse. Pigmented nevi have not been widely recognized in domesticated animals. We describe, for the first time, a giant congenital pigmented nevus in a horse. Because of a prominent neuroid component within the lesion, neurofibromatosis was the major differential diagnosis.
Case of equine goitre. A brief review of the literature on equine goitre is presented, together with a case of congenital goitre in a foal. This animal showed localised swelling of the neck, hyperextension of the lower limbs and initial difficulty in sucking. The goitre was removed surgically and the hyperextension successfully treated with surgical shoes and bandaging. The cause was probably iodine deficiency coupled with a goitrogen in the diet.