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Congenital and Inherited Disorders of the Cardiovascular System in Horses

By

Sandra P. Tou

, DVM, DACVIM, North Carolina State University

Last full review/revision Jul 2019 | Content last modified Aug 2019

Congenital abnormalities of the cardiovascular system are defects that are present at birth. They can occur as a result of genetic defects, environmental conditions, infections, poisoning, medication taken by the dam, poor maternal nutrition, other factors, or a combination of factors. For several defects, an inherited basis is suspected based on breed and breeding studies. Congenital heart defects are significant not only for the effects they produce but also for their potential to be transmitted to offspring through breeding.

The most common congenital defects in horses are ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, and tricuspid dysplasia. Arabian horses have a relatively higher rate of congenital defects than other breeds; a variety of defects have been reported for this breed. However, it is important to understand that the overall number of horses with congenital defects is very low.

Detecting Congenital Heart Defects in Horses

It is important to detect a congenital heart defect as early as possible. Certain defects can be corrected with surgery, and treatment should be performed before the defect leads to congestive heart failure or irreversible heart damage. If the defect is discovered in a recently purchased horse, you may be able to return it for a refund. Horses with congenital heart defects are likely to die prematurely, causing emotional distress. Animals purchased for performance have limited potential and will likely be unsatisfactory. Early detection also prevents continuing genetic defects into breeding lines.

The evaluation of most animals with a congenital heart defect may include a physical examination, electrocardiography (recording electrical activity of the heart), x-rays, and echocardiography (ultrasonography). These steps allow diagnosis and an assessment of the severity of the defect. Once the diagnosis has been made and the severity determined, treatment options can be developed and a medical opinion given as to the likely outcome of the disease.

Congenital heart defects produce signs that vary depending on the type of heart failure involved and the severity of the defect. Left- or right-side heart failure may develop. Possible signs include shortness of breath or difficulty breathing, coughing, fatigue, or an accumulation of fluid in the lungs, limbs, or abdomen.

It is important to know that the presence of murmur in a foal does not necessarily indicate a heart defect. A short, high-pitched, squeaking heart murmur is sometimes seen in healthy young horses.

General Treatment and Outlook

The medical importance of congenital heart disease depends on the particular defect and its severity. Mildly affected horses may show no ill effects and live a normal life span. Defects causing significant circulatory disturbances will likely cause death in newborn (or unborn) foals. Medical or surgical treatments are most likely to benefit horses with congenital heart defects of moderate or greater severity. However, it is very important to understand what level of work or competition the horse will be physically able to carry out following treatment, in order to make the best decision.

Common Congenital Heart Defects in Horses

Although a wide variety of congenital defects may occur in horses, few of these occur often enough to warrant concern. The defects discussed below are those that occur with the greatest frequency in horses. However, these defects are still rare.

Ventricular Septal Defects

Ventricular septal defects (openings in the wall between the left and right ventricles) vary in both size and effects on blood circulation. Ventricular septal defects may occur with other abnormalities of the heart present at birth. They are the most common congenital defects in horses.

Shunting of blood from the left ventricle into the right ventricle is the most common result of this defect, due to the higher pressures of the left ventricle. Blood shunted into the right ventricle is recirculated through the blood vessels in the lungs and left heart chambers, which causes enlargement of these structures. The right ventricle may enlarge as well. Significant shunting through the pulmonary arteries can induce narrowing of these vessels, leading to reduced blood flow or increased blood pressure. As resistance rises, the shunt may reverse (that is, become a right-to-left shunting of blood), allowing blood to bypass the lungs.

Signs depend on the severity of the defect and the shunt direction. A small defect usually causes minimal or no signs, and affected horses may be able to engage in moderate levels of physical activity. Larger defects may result in severe left-side congestive heart failure. The development of a right-to-left shunt is indicated by a bluish tinge, fatigue, and exercise intolerance. Most affected animals have a loud murmur; however, this murmur is absent or faint when a very large defect is present or when shunting is right to left. Chest x‑rays, echocardiography (ultrasonography), and other more specialized techniques may be used to confirm the defect.

Treatment also depends on the severity of signs, intended use of the horse, and direction of the shunt. Horses with small ventricular septal defects without complications do not typically require treatment and the outlook is good. Animals with a moderate to severe defect more commonly develop signs, and treatment should be considered. Treatment may include medications, surgery (uncommon), and the removal of excessive red blood cells, if present. Horses with a ventricular septal defect should not be bred.

Patent Ductus Arteriosus

The ductus arteriosus is a short, broad vessel in the unborn foal that connects the pulmonary artery with the aorta. It allows most of the blood to flow directly from the right ventricle to the aorta. In an unborn foal, oxygenated blood within the main pulmonary artery is forced into the descending aorta through the ductus arteriosus, bypassing the nonfunctional lungs. In most species, the ductus closes at birth when the animal begins to breathe, allowing blood to flow to the lungs. In foals, however, the complete closure of the ductus may be delayed for up to a week after birth, causing a heart murmur. These foals do not typically show any signs associated with the delayed closure.

If the ductus does not close within the first week, the blood flow is forced from chambers of the left side of the heart to those of the right side; these defects are called left-to-right shunts. They result in overcirculation of the lungs and enlargement of the left heart chambers, which may result in arrhythmias. Over time, signs of left-side congestive heart failure (such as trouble breathing or coughing) develop. Surgery to correct the defect (which is done in some dogs and cats) has not been attempted in horses. Anti-inflammatory medications have been tried as a way to speed closure of the ductus in some foals.

Tetralogy of Fallot

Tetralogy of Fallot is a defect that produces a bluish tinge to skin and membranes because there is not enough oxygen in the blood. It is caused by a combination of pulmonic stenosis (an obstruction of blood flow from the right ventricle), a ventricular septal defect, thickening of the muscle fibers of the right ventricle, and varying degrees of the aorta rotating to the right.

The effect of this grouping of defects depends primarily on the severity of the pulmonic stenosis, the size of the ventricular septal defect, and the amount of resistance to blood flow provided by the blood vessels. Consequences may include reduced blood flow to the lungs (resulting in fatigue and shortness of breath) and generalized lack of oxygen in the blood causing a bluish tinge to skin and membranes. Red blood cells may be abnormally increased, leading to poor circulation of blood. Affected horses may also have stunted growth, tire easily (especially after exercise), collapse, or have seizures. A murmur is often, but not always, present.

Electrocardiographs, x-rays, and echocardiography (ultrasonography) can help confirm the diagnosis. Treatment options include medications and periodic removal of excessive red blood cells (phlebotomy). The outlook is guarded to poor, but some foals with mild to moderate disease may reach adulthood.

Tricuspid Dysplasia (Atresia)

The tricuspid valve is located between the right atrium and right ventricle. Normally, it is closed when the right ventricle contracts. This allows blood to flow forward into the lungs and not backward into the right atrium. Tricuspid dysplasia refers to abnormal development or malformation of the tricuspid valve, allowing regurgitation of blood back into the right atrium. This defect is seen occasionally in horses at birth. Arabian horses are more likely to have tricuspid dysplasia, suggesting that there may be a genetic basis for the defect in some cases.

Longterm tricuspid regurgitation leads to increased blood volume in the right heart, enlarging the right ventricle and atrium. Blood flow to the lungs may be decreased, leading to fatigue and an increased rate of respiration. As the pressure in the right atrium increases, blood pools in the veins returning to the heart, causing right-side heart failure.

The more severe the defect, the more obvious the signs will be in affected horses. Signs of right-side congestive heart failure include jugular distension, accumulation of fluid in the abdomen (called ascites), and swelling of the limbs and the underside of the chest and abdomen. A loud heart murmur is very noticeable. Arrhythmias, especially the sudden onset of a very high heart rate, are common and may cause death. In a severe form, called tricuspid atresia, the entire valve may be undeveloped or absent.

Electrocardiography and x-rays may show enlargement of the right ventricle and atrium, while the malformed tricuspid valve can be seen using echocardiography (ultrasonography). Medications are used to manage the signs of heart failure, if present. The outlook for horses with these signs is guarded, although mild defects may pose few problems.

For More Information

Also see professional veterinary content regarding congenital and inherited disorders of the cardiovascular system.

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