Tetralogy of Fallot Essentials of Diagnosis History of exercise intolerance and squatting during childhood Central cyanosis, mildly prominent

right ventricular impulse, murmur of pulmonic stenosis (with sufficient pulmonary blood flow) and absent P2 Mild right ventricular hypertrophy; occasionally left ventricular hypert rophy Chest radiograph shows classic boot-shaped heart (coeur en sabot) in sev ere cases without left-to-right shunt; left ventricular enlargement and poststen otic pulmonary artery dilatation in milder cases; right-sided aortic arch in app roximately 25% of patients Echocardiogram shows right ventricular hypertrophy, overriding aorta, la rge perimembranous ventricular septal defect, and obstruction of the right ventr icular outflow tract (subvalvular, val-vular, supravalvular, or in the pulmonary arterial branches) Gradient across pulmonary outflow tract, normal pulmonary artery pressur es, equalization of right and left ventricular pressures Possibly anomalous branches of right coronary artery crossing right vent ricular outflow tract on coronary angiography General Considerations Tetralogy of Fallot is the most common form of cyanotic congenital heart disease . Without surgical intervention, most patients die in childhood; however, occasi onally an acyanotic patient with only mild-to-moderate PS and minimal right-to-l eft shunting is encountered (pink TOF). Although it is called a tetralogy, only the membranous nonrestrictive VSD and PS contribute to the pathophysiology of th is disorder (Figure 27-23). The severity of PS determines the RV systolic pressu re and thus the degree of right-to-left shunting. The PS can be valvular or, mor e commonly, infundibular with an obstructing muscular band in the RV outflow tra ct. The other two components of the tetralogy include the aortic override and th e secondary RVH. Both cyanotic and acyanotic patients are at high risk for endoc arditis, much like patients with complicated VSD.

Figure 27

23.

Anatomy of tetralogy of Fallot. Adapted, with permission, from Cheitlin M, Sokol ow M, Mcllroy M: Congenital heart disease. In Clinical Cardiology. Norwalk, CT: Appleton & Lange, 1993. Common associated anomalies include ASD (15%; the pentalogy of Fallot), right-si ded aortic arch (25%), and anomalous coronary distribution (about 10%). It is im portant to identify the origin of the left anterior descending artery from the r ight coronary cusp preoperatively because the artery courses over the RV infundi bulum, a potential incision site for the repair. Tetralogy of Fallot is a form o f conotruncal malformation that may occur in conjunction with DiGeorge syndrome. Routine screening for the chromosome 22q11.2 deletion is now recommended to app ropriately guide management and identify those patients whose offspring will be at increased risk for congenital heart disease. Clinical Findings Symptoms and Signs The patient with tetralogy was typically a blue baby, cyanotic at birth. There i s usually a history of exercise intolerance and squatting during childhood. Char acteristic "tet spells," which are typified by episodic faintness and worsening cyanosis, are believed to be due to infundibular spasm and are generally diminis hed or absent by adulthood. Worsening cyanosis also occurs during exercise becau se of the associated systemic vasodilation and increased right-to-left shunt. In severe cases of PS or atresia, the patient may have had life-saving surgical

palliation with an aortopulmonary shunt. In the past, total repairs were not att empted until school age, but they are now being performed in infancy in many cen ters. Physical examination reveals cyanosis and, less frequently, clubbing. The precor dium is generally quiet, although a mild RV heave may be present. The intensity and duration of the pulmonic flow murmur vary with the degree of PS; P2 is usual ly absent. In cases of pulmonary atresia with VSD (an extreme form of TOF), a co ntinuous murmur over the back may be audible due to aortopulmonary collaterals. Patients who have had a "classic" Blalock-Taussig shunt, anastomosis of the subc lavian to the side of the pulmonary artery, will have an absent pulse in the ips ilateral arm and a continuous murmur as long as the shunt is patent and function ing properly. A "modified" Blalock-Taussig shunt, interposing a small Gore-Tex t ube between the subclavian artery and the pulmonary artery, preserves the brachi al pulse and is easily occluded at the time of intracardiac repair. In patients who have had intracardiac repair, a low-pitched pulmonary regurgitation murmur i s commonly audible. When the murmur occurs only in early diastole, it suggests c linically important residual regurgitation. Diagnostic Studies Electrocardiography and Chest Radiograph The electrocardiographic findings depend on the severity of the PS and the relat ive degree of shunting. If PS is severe, RVH is usually evident. If the PS is mi ld and the shunt is predominantly left to right, LVH may be evident. P waves are usually normal. Following intracardiac repair with infundibular resection, RBBB and varying forms of heart block are common. Postoperative atrial and ventricul ar arrhythmias are well-recognized complications. The radiographic findings also depend on the underlying individual pathophysiolo gy. The typical boot-shaped coeur en sabot is seen when PS is severe and the lef t ventricle is small. In these cases, pulmonary blood flow is reduced. Poststeno tic pulmonary artery dilatation and a right-sided aortic arch may be visible on chest radiograph. Echocardiography Transthoracic two-dimensional and Doppler echocardiography demonstrates the feat ures of this defect in its native and repaired state. The typical findings in pa tients with unrepaired TOF include severe RVH and a thickened, malformed pulmona ry valve with poststenotic dilation. Alternatively, the level of stenosis may be primarily infundibular, with marked hypertrophic narrowing of the RV outflow tr act. (Figure 27-24) Systolic color-flow aliasing and a continuous-wave Doppler g radient are detectable across the RV outflow tract or pulmonic valve. Two-dimens ional imaging reveals a perimembranous VSD with evidence of right-to-left shunti ng by color-flow imaging; the peak velocity of the VSD jet seen by spectral Dopp ler is usually low. The aortic root is variably enlarged and overrides the VSD. Aortic insufficiency, usually mild, may be present. Multiplanar TEE is particula rly suited to define the anatomy of the RV outflow tract and the pulmonary valve when precordial imaging is difficult. In pulmonary atresia with VSD (previously called truncus arteriosus, type IV), aortopulmonary collaterals arising from th e descending aorta can also be imaged by TEE. Figure 27 24.

Transthoracic echocardiogram in patient with tetralogy of Fallot. A: The paraste rnal long axis view shows the VSD, overriding aorta. AV = aortic valve; LA = lef t atrium; LV = left ventricle; RVH = right ventricular hypertrophy; RV = right v entricle. B: Continuous-wave Doppler signal across the right ventricular outflow tract shows a high-velocity, late-peaking jet. This demonstrates severe outflow tract obstruction. The late peak suggests a component of dynamic obstruction du e to the hypertrophied infundibulum. Complications of TOF repair that can be detected noninvasively by echocardiograp

hy include residual outflow obstruction, severe pulmonary valve regurgitation, R V outflow-tract aneurysms, and VSD patch leak. In rare cases, an anomalous left anterior descending artery that was severed during surgery results in a LV apica l aneurysm. Cardiac Catheterization Cardiac catherterization reveals a gradient across the pulmonary outflow tract, usually normal PA pressures, and equalization of RV and LV pressures. Angiograph y may better define the anatomy of the RV outflow tract and the size of the VSD (this information is now usually available noninvasively). Coronary arteriograph y may demonstrate anomalous origins of the left coronary artery. Other Laboratory Findings Arterial saturation is variably reduced, and secondary erythrocytosis is present in the adult who has had no reparative surgery. In those with adequate surgical repair, arterial saturation should be normal. Prognosis & Treatment Only 11% of individuals born with this lesion survive without palliative surgery beyond the age of 20, and only 3% survive beyond the age of 40. Because the PS protects TOF patients from the development of pulmonary hypertension, however, t hey are almost always surgical candidates as adults. Medically, it is important to avoid systemic vasodilator therapy in the patient whose TOF is uncorrected be cause a reduction in arterial blood pressure can increase right-to-left shunting . Endocarditis is common in unrepaired TOF. Total intracardiac repair with closure of the VSD and correction of the pulmonar y or infundibular stenosis is indicated in the cyanotic patient to reduce sympto ms and forestall complications attributable to cyanosis. The infundibulum is inc ised and resected to alleviate obstruction, with patching of the RV outflow trac t or pulmonary annulus when necessary. This is considered one of the most succes sful operations in congenital heart disease surgical treatment. The indications for surgery in the occasional acyanotic patient with TOF are similar to those of a patient with VSD. Important considerations prior to surgery include the prese nce of anomalies in the pulmonary and coronary arteries (approximately 15% and 3 5%, respectively). In pulmonary atresia with VSD, which can be considered the ex treme form of TOF, survival depends on the presence of well-developed bronchopul monary or systemic-to-pulmonary collaterals. In the rare adult presenting with t his lesion, surgical repair is either more complicated, requiring multiple proce dures, or it is not feasible. In patients who undergo intracardiac repair for TOF, potentially significant pos toperative anatomic sequelae are possible, including residual outflow obstructio n, pulmonary valve regurgitation, RV aneurysms, and VSD patch leak. Pulmonary re gurgitation may develop as a consequence of surgical repair of the RV outflow tr act (transannular patch). Although even substantial regurgitation can be tolerat ed for long periods, enlargement of the right ventricle eventually occurs, with resultant RV dysfunction, and repair or replacement of the pulmonary valve may b e required. A recent large retrospective study looking at risk stratification for arrhythmia and sudden death in these patients underscores the importance of vigilant asses sment of electrocardiographic parameters (QRS duration), and hemodynamic charact eristics (pulmonary regurgitation/obstruction) with timely intervention as a mea ns of modifying the risk for sudden cardiac death in these patients. It is hoped that two current trends in surgery will reduce the incidence of arrhythmias. Th e first is avoidance of RV outflow tract incisions by either a transatrial or tr anspulmonary approach. Secondly, earlier surgical intervention may allow less ti me for the development of ventricular fibrosis.