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.
Aortic valve insufficiency in a one-year-old colt. Aortic insufficiency was suspected in a thin 1-year-old colt with a grade IV/V decrescendo holodiastolic murmur and a bounding arterial pulse. Echocardiographic findings (diastolic fluttering of the septal leaflet of the mitral valve, left ventricular volume overload, and incomplete aortic valve closure) were diagnostic for aortic valve insufficiency. Moderately thick fibrotic aortic valve leaflets were found at necropsy. Fenestrations were found in the aortic and pulmonic valve cusps. Congenital valvular disease may have led to aortic valvular insufficiency in this horse.
Echocardiographic detection of tricuspid atresia in two foals. M-mode, 2-dimensional, and contrast echocardiographic studies were used to detect tricuspid atresia in 2 foals. M-mode echocardiographic findings included a small right ventricle, large left ventricle, large mitral valve excursion, large left atrium (foal 2), dropout of the cranial aspect of the aortic root, and a thick band of echoes in the tricuspid valve region. These findings were confirmed by 2-dimensional echocardiography. In addition, a large right atrium, persistent foramen ovale, ventricular septal defect, and large mitral valve apparatus were imaged. One foal also had a thick right a...
Unilateral phalangeal dysgenesis and navicular bone agenesis in a foal. This research journal article documents a rare case of a five-day-old foal suffering from a congenitally malformed hoof and the associated lameness. The disorders studied were unilateral navicular bone agenesis […]
Congenital vascular tumours in the skin of horses. Congenital vascular tumours in the skin of the legs of two horses showed histological features at biopsy which were consistent with capillary haemangioma but, at necropsy, one tumour had invaded the superficial digital flexor tendon and was therefore classified as a haemangiosarcoma.
Congenital sinus cyst in a foal. Radiography and endoscopy of a 17-day-old Standardbred foal that had right-sided facial swelling and dyspnea since birth revealed a soft tissue mass in the right nasal passage and right maxillary and frontal sinuses. A bone flap was used to expose the mass, and a fluid-filled structure was removed surgically. After surgery, the dyspnea was alleviated. The facial deformity resolved by the time the foal was 6 months old. The upper airway obstruction was absent clinically and endoscopically by the time the foal was 17 months old.
Right atrioventricular atresia and ventricular septal defect in a foal. Right atrioventricular atresia with a ventricular septal defect, a rare congenital cardiac anomaly of either animals or man, was diagnosed in a one week old Arabian foal. The foal had been weak and cyanotic since birth, sometimes becoming dyspneic when stressed. Necropsy revealed a dilated and hypertrophied left ventricle with the right ventricle being small. The right atrioventricular valve was absent. The right and left ventricles communicated via a septal defect which was located immediately adjacent to the aortic valve.
Investigation into the heredity of congenital lateral patellar (sub)luxation in the Shetland pony. A breeding experiment was carried out in a group of Shetland ponies in order to investigate the heredity of congenital lateral patellar (sub)luxation. A breeding herd was established and consisted of stallions and mares acquired at different times. Some were free from, and others were affected by lateral patellar (sub)luxation in either one or both femoropatellar joints. Over a period of 20 years, 49 foals were born from different mating combinations. Some offspring were free from the defect and others showed the abnormality. Though the number of foals bred during the experiment is rather smal...
The pathogenesis of dystocia and fetal malformation in the horse. From a total of 601 severe dystocias in mares, 408 (68%) of the fetuses were in anterior, 95 (16%) in posterior and 98 (16%) in transverse presentation, compared with 99%, 1% and 0.1% respectively for spontaneous parturitions. From the cases with anterior presentation, 151 (37%) showed reflected heads and necks. From the cases with posterior presentation, 47 (50%) presented hip flexions, 25% had hock flexions, and 25% had stretched hind legs, 45 (47%) of the fetuses were in lateral or ventral position, and 28 (30%) of the fetuses were malformed (mainly torticollis and head scoliosis). All 98 c...
Bilateral renal hypoplasia in four young horses. Three horses less than or equal to 3 years old were evaluated because of stunted growth, weight loss, anorexia, depression, and lethargy of at least 1 month's duration. A neonatal foal was examined after its death. In each case, gross and microscopic renal lesions were compatible with bilateral renal hypoplasia (ie, cortical hypoplasia with severe medullary hypoplasia). In young horses with renal failure, bilateral renal hypoplasia should be considered in the differential diagnosis, and may represent a congenital lesion.
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.