Tetralogy of Fallot is an uncommon but complex congenital defect comprised of pulmonic stenosis, ventricular septal defect, right ventricular hypertrophy, and overriding aorta. Clinical signs vary depending on the severity of pulmonic stenosis and the degree of right-to-left shunting. Cyanosis is common, with subsequent development of polycythemia. Diagnosis is achieved by echocardiography, and treatment (medical, interventional, and surgical options) is determined on an individual patient basis.
Tetralogy of Fallot is the most common defect that produces cyanosis. It results from a combination of four components:
pulmonic stenosis
large ventricular septal defect
right ventricular hypertrophy
dextropositioning (overriding) of the aorta
A single conotruncal malformation (cranially displaced formation of the upper portion of the interventricular septum) is believed to result in narrowing of the right ventricular outflow tract (pulmonic stenosis), overriding of the aorta, and the ventricular septal defect. The right ventricular concentric hypertrophy is simply a consequence of the pulmonic stenosis. The pulmonic stenosis may be valvular, infundibular, or both. Breeds predisposed to tetralogy of Fallot include Keeshonds and English Bulldogs. The trait is inherited in Keeshonds and presumably in other breeds. This defect has been recognized in other breeds of dogs and in cats.
Pathophysiology of Tetralogy of Fallot in Animals
The hemodynamic consequences of tetralogy of Fallot depend primarily on the severity of the pulmonic stenosis, the size of the ventricular septal defect (which is typically large and nonrestrictive), and the ratio of pulmonary to systemic vascular resistance. The direction and magnitude of the shunt through the septal defect depends in large part on the relative resistances to flow between the pulmonic circulation (obstructed by the pulmonic stenosis) and the systemic circulation. Consequences include reduced pulmonary blood flow (resulting in fatigue, shortness of breath) and generalized cyanosis (resulting in polycythemia and weakness) caused by the mixing of deoxygenated blood from the right ventricle with oxygenated blood from the left ventricle.
Because of venous admixture, the kidneys release erythropoietin, resulting in polycythemia. The increased blood viscosity associated with polycythemia can lead to sludging of blood and poor capillary perfusion. Consequences of polycythemia include ocular changes, bleeding diathesis, and neurologic abnormalities (ataxia, seizures).
Clinical Findings of Tetralogy of Fallot in Animals
Affected dogs and cats may exhibit signs associated with pulmonic stenosis (associated with right heart failure and/or poor cardiac output) or cyanosis
A loud, ejection-quality heart murmur associated with pulmonic stenosis is present
Typical historical features of tetralogy of Fallot include stunted growth, exercise intolerance, cyanosis, collapse, and seizures. A precordial thrill may be felt in the area of the pulmonic valve, and in most cases, a murmur of pulmonic stenosis is present. The intensity of the murmur is attenuated when severe polycythemia is present, and in some affected animals, a cardiac murmur is not present.
Courtesy of Dr. Sandra Tou.
Electrocardiographically, a pattern of right ventricular enlargement is usually seen (deep S waves in lead II, right axis shift), and arrhythmias are infrequent. Radiographs demonstrate variable right heart enlargement and undersized pulmonary vessels.
Echocardiography confirms the diagnosis. Overriding (rightward displacement) of the aortic root, right ventricular hypertrophy, and a ventricular septal defect are evident. The left-side chambers may be small as a result of decreased pulmonary venous return. Routine contrast echocardiography demonstrates right-to-left shunting at the level of the ventricular septal defect. Flow through the defect can also be detected by Doppler echocardiography.
Beta-adrenergic blockade has been used to reduce the dynamic component of right ventricular outflow obstruction and to attenuate beta-adrenergic–mediated decreases in systemic vascular resistance. Increases in systemic vascular resistance lower the magnitude of shunting. Polycythemia should be controlled by periodic phlebotomy to resolve clinical signs of polycythemia. The prognosis is guarded, but animals with mild to moderate shunting may reach adulthood.
Treatment of Tetralogy of Fallot in Animals
Corrective or palliative surgery can be considered, although most cases undergo medical management to minimize shunting and degree of polycythemia
Treatment options for tetralogy of Fallot include surgical and medical management. Corrective surgery has been reported in dogs but is rarely performed. Palliative surgical techniques to relieve clinical signs associated with tetralogy of Fallot are also rarely performed and include techniques to produce systemic to pulmonary anastomoses such as a modified Blalock-Taussig shunt. These procedures increase blood flow to the lungs to reduce signs of pulmonary hypoperfusion and systemic hypoxia. In some cases, reducing pulmonic stenosis is palliative. Surgical valvuloplasty or balloon valvuloplasty of the pulmonic stenosis are also options.
Key Points
Tetralogy of Fallot is a complex heart disease with four components: pulmonic stenosis, ventricular septal defect, right ventricular concentric hypertrophy, and dextropositioned (overriding) aorta.
Right-to-left shunting across the ventricular septal defect may result in generalized cyanosis and polycythemia.
Treatment is dependent on the severity of pulmonic stenosis, right-to-left shunting, and clinical signs.
