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.
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.
Diagnosis of cardiac lesions by contrast echocardiography. Contrast M-mode echocardiography was utilized to study animals with congenital and acquired cardiac defects. Contrast was produced through the rapid injection of isotonic NaCl solution, the patient's blood, or indocyanine green dye into the circulation. Peripheral vein and intracardiac injections of contrast material were used to document ventricular septal defect, tetralogy of Fallot, atrial septal defect, and mitral valve regurgitation. The technique was safe and useful for both small and large animals.
Congenital intestinal aganglionosis in white foals. A congenital and probably hereditary neurological defect has been identified in the intestinal tract of six foals produced from the breeding of overo (a type of spotting pattern) horses. The foals had white hair and pink skin with the exception of occasional pigmented foci about the muzzle, ventral abdomen, and hindquarters. The foals appeared normal at birth, but within a few hours developed symptoms of colic. At necropsy, the only significant finding was a narrow, pale segment of large intestine. This abnormality either was confined to the small colon and rectum or involved the entire colon ...
Hereditary lethal arthrogryposis (“muscle contracture”) in horses. In 4 female foals of the Norwegian horse breed, "Fjord Horse", congenital arthrogryposis of the limbs are described. The disorder was mainly limited to the hind limbs and associated with polydactylia and partly with brachygnathia superior and cleft palate. The defective foals were paternal halfsisters of 4 normal foals (1 female + 3 males), sired by the stallion "Bingo" 1804, which was phenotypically quite normal. The disorder being lethal, is possibly caused by a sex-limited or a strongly sex-influenced dominant gene.
Multiple congenital heart anomalies in five Arabian foals. Five Arabian or half-Arabian foals with suspected multiple cardiac anomalies were examined. Various combinations of clinical examination, electrocardiography, angiocardiography, cardiac catheterization, blood gas analysis, radiography, and echocardiography resulted in clinical data that allowed accurate antemortem diagnoses to be made. In 4 cases, the clinical diagnosis was substantiated by postmortem findings. The confirmed diagnoses were: pseudotruncus arteriosus, a combination of patent ductus arteriosus, pulmonic stenosis, and tricuspid stenosis, pentalogy of Fallot, and tricuspid atresia....
Pulmonary atresia with dextroposition of the aorta and ventricular septal defect in three Arabian foals. Three Arabian males foals were presented with cyanosis, heart murmur, and exercise intolerance, Results of clinical evaluation suggested a tentative diagnosis of ventricular septal defect in conjunction with malformations of the great arteries. Each foal had a poor prognosis and was killed at the owners' requests. At necropsy, the malformed hearts of the three foals were virtually identical. Each heart had a large defect in the upper interventricular septum. The aorta originated from the hypertrophied right ventricle and partially overrode the ventricular septal defect. The aortic ostium was g...