Cardiac Disease Diagnosis

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Physical Findings

Physical Examination

The physical examination is less important than the history in patients with ischemic heart disease, but it is of critical value in patients with congenital and valvular heart disease. In the latter two categories, the physician can often make specific anatomic and etiologic diagnoses based on the physical examination. Certain abnormal murmurs and heart sounds are specific for structural abnormalities of the heart. The physical examination is also important for confirming the diagnosis and establishing the severity of heart failure, and it is the only way to diagnose systemic hypertension because this diagnosis is based on elevated blood pressure recordings.

Blood Pressure

Proper measurement of the systemic arterial pressure by cuff sphygmomanometry is one of the keystones of the cardiovascular physical examination. We recommend that the brachial artery be palpated and the diaphragm of the stethoscope be placed over it, rather than merely sticking the stethoscope in the antecubital fossa. Current methodologic standards dictate that the onset and disappearance of the Korotkoff sounds define the systolic and diastolic pressures, respectively. Although this is the best approach in most cases, there are exceptions. For example, in patients in whom the diastolic pressure drops to near zero, the point of muffling of the sounds is usually recorded as the diastolic pressure. Because the diagnosis of systemic hypertension involves repeated measures under the same conditions, the operator should record the arm used and the position of the patient to allow reproducible measurements to be made on serial visits.

If the blood pressure is to be taken a second time, the patient should be in another position, such as standing, to determine any orthostatic changes in blood pressure. Orthostatic changes are a very important physical finding, especially in patients complaining of transient central nervous system symptoms, weakness, or unstable gait. The technique involves having the patient assume the upright position for at least 90 s before taking the pressure to be sure that the maximum orthostatic effect is measured. Although measuring the pressure in other extremities may be of value in certain vascular diseases, it provides little information in a routine examination beyond palpating pulses in all the extremities. Keep in mind, in general, that the pulse pressure (the difference between systolic and diastolic blood pressures) is a crude measure of left ventricular stroke volume. A widened pulse pressure suggests that the stroke volume is large; a narrowed pressure, that the stroke volume is small.

Peripheral Pulses

When examining the peripheral pulses, the physician is really conducting three examinations. The first is an examination of the cardiac rate and rhythm, the second is an assessment of the characteristics of the pulse as a reflection of cardiac activity, and the third is an assessment of the adequacy of the arterial conduit being examined. The pulse rate and rhythm are usually determined in a convenient peripheral artery, such as the radial. If a pulse is irregular, it is better to auscultate the heart; some cardiac contractions during rhythm disturbances do not generate a stroke volume sufficient to cause a palpable peripheral pulse. In many ways, the heart rate reflects the health of the circulatory system. A rapid pulse suggests increased catecholamine levels, which may be due to cardiac disease, such as heart failure; a slow pulse represents an excess of vagal tone, which may be due to disease or athletic training.

To assess the characteristics of the cardiac contraction through the pulse, it is usually best to select an artery close to the heart, such as the carotid. Bounding high-amplitude carotid pulses suggest an increase in stroke volume and should be accompanied by a wide pulse pressure on the blood pressure measurement. A weak carotid pulse suggests a reduced stroke volume. Usually the strength of the pulse is graded on a scale of 1 to 4, where 2 is a normal pulse amplitude, 3 or 4 is a hyperdynamic pulse, and 1 is a weak pulse. A low-amplitude, slow-rising pulse, which may be associated with a palpable vibration (thrill), suggests aortic stenosis. A bifid pulse (beating twice in systole) can be a sign of hypertrophic obstructive cardiomyopathy, severe aortic regurgitation, or the combination of moderately severe aortic stenosis and regurgitation. A dicrotic pulse (an exaggerated, early, diastolic wave) is found in severe heart failure. Pulsus alternans (alternate strong and weak pulses) is also a sign of severe heart failure. When evaluating the adequacy of the arterial conduits, all palpable pulses can be assessed and graded on a scale of 0 to 4, where 4 is a fully normal conduit, and anything below that is reduced, including 0—which indicates an absent pulse. The major pulses routinely palpated on physical examination are the radial, brachial, carotid, femoral, dorsalis pedis, and posterior tibial. In special situations, the abdominal aorta and the ulnar, subclavian, popliteal, axillary, temporal, and intercostal arteries are palpated. In assessing the abdominal aorta, it is important to make note of the width of the aorta because an increase suggests an abdominal aortic aneurysm. It is particularly important to palpate the abdominal aorta in older individuals because abdominal aortic aneurysms are more prevalent in those older than 70. An audible bruit is a clue to significantly obstructed large arteries. During a routine examination, bruits are sought with the bell of the stethoscope placed over the carotids, abdominal aorta, and femorals at the groin. Other arteries may be auscultated under special circumstances, such as suspected temporal arteritis or vertebrobasilar insufficiency.

Jugular Venous Pulse

Assessment of the jugular venous pulse can provide information about the central venous pressure and right-heart function. Examination of the right internal jugular vein is ideal for assessing central venous pressure because it is attached directly to the superior vena cava without intervening valves. The patient is positioned into the semiupright posture that permits visualization of the top of the right internal jugular venous blood column. The height of this column of blood, vertically from the sternal angle, is added to 5 cm of blood (the presumed distance to the center of the right atrium from the sternal angle) to obtain an estimate of central venous pressure in centimeters of blood. This can be converted to millimeters of mercury (mm Hg) with the formula:

Examining the characteristics of the right internal jugular pulse is valuable for assessing right-heart function and rhythm disturbances. The normal jugular venous pulse has two distinct waves: a and v; the former coincides with atrial contraction and the latter with late ventricular systole. An absent a wave and an irregular pulse suggest atrial fibrillation. A large and early v wave suggests tricuspid regurgitation. The dips after the a and v waves are the x and y descents; the former coincide with atrial relaxation and the latter with early ventricular filling. In tricuspid stenosis the y descent is prolonged. Other applications of the jugular pulse examination are discussed in the chapters dealing with specific disorders.

Lungs

Evaluation of the lungs is an important part of the physical examination: Diseases of the lung can affect the heart, just as diseases of the heart can affect the lungs. The major finding of importance is rales at the pulmonary bases, indicating alveolar fluid collection. Although this is a significant finding in patients with congestive heart failure, it is not always possible to distinguish rales caused by heart failure from those caused by pulmonary disease. The presence of pleural fluid, although useful in the diagnosis of heart failure, can be due to other causes. Heart failure most commonly causes a right pleural effusion; it can cause effusions on both sides but is least likely to cause isolated left pleural effusion. The specific constellation of dullness at the left base with bronchial breath sounds suggests an increase in heart size from pericardial effusion (Ewart's sign) or another cause of cardiac enlargement; it is thought to be due to compression by the heart of a left lower lobe bronchus.

When right-heart failure develops or venous return is restricted from entering the heart, venous pressure in the abdomen increases, leading to hepatosplenomegaly and eventually ascites. None of these physical findings is specific for heart disease; they do, however, help establish the diagnosis. Heart failure also leads to generalized fluid retention, usually manifested as lower extremity edema or, in severe heart failure, anasarca.

Cardiac Auscultation

Heart sounds are caused by the acceleration and deceleration of blood and the subsequent vibration of the cardiac structures during the phases of the cardiac cycle. To hear cardiac sounds, use a stethoscope with a bell and a tight diaphragm. Low-frequency sounds are associated with ventricular filling and are heard best with the bell. Medium-frequency sounds are associated with valve opening and closing; they are heard best with the diaphragm. Cardiac murmurs are due to turbulent blood flow, are usually high-to-medium frequency, and are heard best with the diaphragm. Low-frequency atrioventricular valve inflow murmurs, such as that produced by mitral stenosis, are best heard with the bell, however. Auscultation should take place in areas that correspond to the location of the heart and great vessels. Such placement will, of course, need to be modified for patients with unusual body habitus or an unusual cardiac position. When no cardiac sounds can be heard over the precordium, they can often be heard in either the subxiphoid area or the right supraclavicular area.

Auscultation in various positions is recommended because low-frequency filling sounds are best heard with the patient in the left lateral decubitus position, and high-frequency murmurs, such as that of aortic regurgitation, are best heard with the patient sitting.

Heart Sounds

The first heart sound is coincident with mitral and tricuspid valve closure and has two components in up to 40% of normal individuals. There is little change in the intensity of this sound with respiration or position. The major determinant of the intensity of the first heart sound is the electrocardiographic PR interval, which determines the time delay between atrial and ventricular contraction and thus the position of the mitral valve when ventricular systole begins. With a short PR interval, the mitral valve is widely open when systole begins, and its closure increases the intensity of the first sound, as compared to a long PR-interval beat when the valve partially closes prior to the onset of ventricular systole. Certain disease states, such as mitral stenosis, also can increase the intensity of the first sound.

The second heart sound is coincident with closure of the aortic and pulmonic valves. Normally, this sound is single in expiration and split during inspiration, permitting the aortic and pulmonic components to be distinguished. The inspiratory split is due to a delay in the occurrence of the pulmonic component because of a decrease in pulmonary vascular resistance, which prolongs pulmonary flow beyond the end of right ventricular systole. Variations in this normal splitting of the second heart sound are useful in determining certain disease states. For example, in atrial septal defect, the second sound is usually split throughout the respiratory cycle because of the constant increase in pulmonary flow. In patients with left bundle branch block, a delay occurs in the aortic component of the second heart sound, which results in reversed inspiratory splitting; single with inspiration, split with expiration.

A third heart sound occurs during early rapid filling of the left ventricle; it can be produced by any condition that causes left ventricular volume overload or dilatation. It can therefore be heard in such disparate conditions as congestive heart failure and normal pregnancy. A fourth heart sound is due to a vigorous atrial contraction into a stiffened left ventricle and can be heard in left ventricular hypertrophy of any cause or in diseases that reduce compliance of the left ventricle, such as myocardial infarction.

Although third and fourth heart sounds can occasionally occur in normal individuals, all other extra sounds are signs of cardiac disease. Early ejection sounds are due to abnormalities of the semilunar valves, from restriction of their motion, thickening, or both (eg, a bicuspid aortic valve, pulmonic or aortic stenosis). A midsystolic click is often due to mitral valve prolapse and is caused by sudden tensing in midsystole of the redundant prolapsing segment of the mitral leaflet. The opening of a thickened atrioventricular valve leaflet, as in mitral stenosis, will cause a loud opening sound (snap) in early diastole. A lower frequency (more of a knock) sound at the time of rapid filling may be an indication of constrictive pericarditis. These early diastolic sounds must be distinguished from a third heart sound.

Murmurs

Systolic murmurs are very common and do not always imply cardiac disease. They are usually rated on a scale of 1 to 6, where grade 1 is barely audible, grade 4 is associated with palpable vibrations (thrill), grade 5 can be heard with the edge of the stethoscope, and grade 6 can be heard without a stethoscope. Most murmurs fall in the 1–3 range, and murmurs in the 4–6 range are almost always due to pathologic conditions; severe disease can exist with grades 1–3 or no cardiac murmurs, however. The most common systolic murmur is the crescendo/decrescendo murmur that increases in intensity as blood flows early in systole and diminishes in intensity through the second half of systole. This murmur can be due to vigorous flow in a normal heart or to obstructions in flow, as occurs with aortic stenosis, pulmonic stenosis, or hypertrophic cardiomyopathy. The so-called innocent flow murmurs are usually grades 1–2 and occur very early in systole; they may have a vibratory quality and are usually less apparent when the patient is in the sitting position (when venous return is less). If an ejection sound is heard, there is usually some abnormality of the semilunar valves. Although louder murmurs may be due to pathologic cardiac conditions, this is not always so. Distinguishing benign from pathologic systolic flow murmurs is one of the major challenges of clinical cardiology. Benign flow murmurs can be heard in 80% of children; the incidence declines with age, but may be prominent during pregnancy or in adults who are thin or physically well trained. The murmur is usually benign in a patient with a soft flow murmur that diminishes in intensity in the sitting position and neither a history of cardiovascular disease nor other cardiac findings.

The holosystolic, or pansystolic, murmur is almost always associated with cardiac pathology. The most common cause of this murmur is atrioventricular valve regurgitation, but it can also be observed in conditions such as ventricular septal defect, in which an abnormal communication exists between two chambers of markedly different systolic pressures. Although it is relatively easy to determine that these murmurs represent an abnormality, it is more of a challenge to determine their origins. Keep in mind that such conditions as mitral regurgitation, which usually produce holosystolic murmurs, may produce crescendo/decrescendo murmurs, adding to the difficulty in differentiating benign from pathologic systolic flow murmurs.

Diastolic murmurs are always abnormal. The most frequently heard diastolic murmur is the high-frequency decrescendo early murmur of aortic regurgitation. This is usually heard best at the upper left sternal border or in the aortic area (upper right sternal border) and may radiate to the lower left sternal border and the apex. This murmur is usually very high frequency and may be difficult to hear. Although the murmur of pulmonic regurgitation may sound like that of aortic regurgitation when pulmonary artery pressures are high, it is usually best heard in the pulmonic area (left second intercostal space parasternally). If structural disease of the valve is present with normal pulmonary pressures, the murmur usually has a midrange frequency and begins with a slight delay after the pulmonic second heart sound. Mitral stenosis produces a low-frequency rumbling diastolic murmur that is decrescendo in early diastole, but may become crescendo up to the first heart sound with moderately severe mitral stenosis and sinus rhythm. The murmur is best heard at the apex in the left lateral decubitus position with the bell of the stethoscope. Similar findings are heard in tricuspid stenosis, but the murmur is loudest at the lower left sternal border.

A continuous murmur implies a connection between a high- and a low-pressure chamber throughout the cardiac cycle, such as occurs with a fistula between the aorta and the pulmonary artery. If the connection is a patent ductus arteriosus, the murmur is heard best under the left clavicle; it has a machine-like quality. Continuous murmurs must be distinguished from the combination of systolic and diastolic murmurs in patients with combined lesions (eg, aortic stenosis and regurgitation).

Traditionally, the origin of heart murmurs was based on five factors: (1) their timing in the cardiac cycle, (2) where on the chest they were heard, (3) their characteristics, (4) their intensity, and (5) their duration. Unfortunately, this traditional classification system is unreliable in predicting the underlying pathology. A more accurate method, dynamic auscultation, changes the intensity, duration, and characteristics of the murmur by bedside maneuvers that alter hemodynamics.

The simplest of these maneuvers is observation of any changes in murmur intensity with normal respiration because all right-sided cardiac murmurs should increase in intensity with normal inspiration. Although some exceptions exist, the method is very reliable for detecting such murmurs. Inspiration is associated with reductions in intrathoracic pressure that increase venous return from the abdomen and the head, leading to an increased flow through the right heart chambers. The consequent increase in pressure increases the intensity of right-sided murmurs. These changes are best observed in the sitting position, where venous return is smallest, and changes in intrathoracic pressure can produce their greatest effect on venous return. In a patient in the supine position, when venous return is near maximum, there may be little change observed with respiration. The ejection sound caused by pulmonic stenosis does not routinely increase in intensity with inspiration. The increased blood in the right heart accentuates atrial contraction, which increases late diastolic pressure in the right ventricle, partially opening the stenotic pulmonary valve and thus diminishing the opening sound of this valve with the subsequent systole.

Changes in position are an important part of normal auscultation; they can also be of great value in determining the origin of cardiac murmurs (Table 1-2). Murmurs dependent on venous return, such as innocent flow murmurs, are softer or absent in upright positions; others, such as the murmur associated with hypertrophic obstructive cardiomyopathy, are accentuated by reduced left ventricular volume. In physically capable individuals, a rapid squat from the standing position is often diagnostically valuable because it suddenly increases venous return and left ventricular volume and accentuates flow murmurs but diminishes the murmur of hypertrophic obstructive cardiomyopathy. The stand- squat maneuver is also useful for altering the timing of the midsystolic click caused by mitral valve prolapse during systole. When the ventricle is small during standing, the prolapse occurs earlier in systole, moving the midsystolic click to early systole. During squatting, the ventricle dilates and the prolapse is delayed in systole, resulting in a late midsystolic click.

Valsalva's maneuver is also frequently used. The patient bears down and expires against a closed glottis, increasing intrathoracic pressure and markedly reducing venous return to the heart. Although almost all cardiac murmurs decrease in intensity during this maneuver, there are two exceptions: (1) The murmur of hypertrophic obstructive cardiomyopathy may become louder because of the diminished left ventricular volume. (2) The murmur associated with mitral regurgitation from mitral valve prolapse may become longer and louder because of the earlier occurrence of prolapse during systole. When the maneuver is very vigorous and prolonged, even these two murmurs may eventually diminish in intensity. Therefore, the Valsalva maneuver should be held for only about 10 s, so as not to cause prolonged diminution of the cerebral and coronary blood flow.

Isometric hand grip exercises have been used to increase arterial and left ventricular pressure. These maneuvers increase the flow gradient for mitral regurgitation, ventricular septal defect, and aortic regurgitation; the murmurs should then increase in intensity. Increasing arterial and left ventricular pressure increases left ventricular volume, thereby decreasing the murmur of hypertrophic obstructive cardiomyopathy. If the patient is unable to perform isometric exercises, transient arterial occlusion of both upper extremities with sphygmomanometers can achieve the same increases in left-sided pressure.

Noting the changes in murmur intensity in the heart beat following a premature ventricular contraction, and comparing these to a beat that does not, can be extremely useful. The premature ventricular contraction interrupts the cardiac cycle, and during the subsequent compensatory pause, an extralong diastole occurs, leading to increased left ventricular filling. Because of this, the murmurs of hypertrophic cardiomyopathy and mitral valve prolapse decrease in intensity, and murmurs caused by the flow of blood out of the left ventricle increase in intensity. There is usually no change in the intensity of the murmur of typical mitral regurgitation because blood pressure falls during the long pause and increases the gradient between the left ventricle and the aorta, allowing more forward flow. This results in the same amount of mitral regurgitant flow as on a normal beat with a higher aortic pressure and less forward flow. The increased volume during the long pause goes out of the aorta rather than back into the left atrium. Unfortunately, there is no reliable way of inducing a premature ventricular contraction in most patients; it is fortuitous when a physician is present for one. Atrial fibrillation with markedly varying cycle lengths produces the same phenomenon and can be very helpful in determining the origin of murmurs.

Various rapid-acting pharmacologic agents have been used to clarify the origin of cardiac murmurs. A once-popular bedside pharmacologic maneuver was the inhalation of amyl nitrite. Because this produces rapid vasodilatation and decreases in blood pressure, it diminishes the murmurs of aortic and mitral regurgitation and ventricular septal defect and increases systolic flow murmurs (eg, those caused by aortic stenosis and hypertrophic obstructive cardiomyopathy). Although patients never liked the unpleasant odor of amyl nitrite, it became a popular recreational drug in the 1970s; its popularity has since waned. Other pharmacologic maneuvers have occasionally been used to clarify the origin of a murmur. These include the infusion of synthetic catecholamines to increase blood pressure, isoproterenol to increase the heart rate, and intravenous -blockers to decrease the heart rate. With the ready availability of echocardiography, these more invasive interventions have also diminished in popularity.

Diagnostic Studies

Electrocardiography

Electrocardiography (ECG) is perhaps the least expensive of all cardiac diagnostic tests, providing considerable value for the money. Modern electrocardiogram-reading computers do an excellent job of measuring the various intervals between waveforms and calculating the heart rate and the left ventricular axis. These programs fall considerably short, however, when it comes to diagnosing complex ECG patterns and rhythm disturbances, and the test results must be read by a physician skilled at ECG interpretation.

Analysis of cardiac rhythm is perhaps the ECG's most widely used feature; it is used to clarify the mechanism of an irregular heart rhythm detected on physical examination or that of an extremely rapid or slow rhythm. The ECG is also used to monitor cardiac rate and rhythm; Holter monitoring and other continuous-ECG monitoring devices allow assessment of cardiac rate and rhythm on an ambulatory basis. ECG radio telemetry is also often used on hospital wards and between ambulances and emergency rooms to assess and monitor rhythm disturbances. There are two types of ambulatory ECG recorders: continuous recorders that record all heart beats over 24 or more hours and intermittent recorders that can be attached to the patient for weeks for months and then activated to provide brief recordings of infrequent events. In addition to analysis of cardiac rhythm, ambulatory ECG recordings can be used to detect ST-wave transients indicative of myocardial ischemia and certain electrophysiologic parameters of diagnostic and prognostic value. The most common use of ambulatory ECG monitoring is the evaluation of symptoms such as syncope, near-syncope, or palpitation for which there is no obvious cause and cardiac rhythm disturbances are suspected.

The ECG is an important tool for rapidly assessing metabolic and toxic disorders of the heart. Characteristic changes in the ST-T waves indicate imbalances of potassium and calcium. Drugs such as procainamide and the tricyclic antidepressants have characteristic effects on the QT and QRS intervals at toxic levels. Such observations on the ECG can be life-saving in emergency situations with comatose patients or cardiac arrest victims.

Chamber enlargement can be assessed through the characteristic changes of left or right ventricular and atrial enlargement. Occasionally, isolated signs of left atrial enlargement on the ECG may be the only diagnostic clue to mitral stenosis. Evidence of chamber enlargement on the ECG usually signifies an advanced stage of disease with a poorer prognosis than that of patients with the same disease but no discernible enlargement.

The ECG is an important tool in managing acute myocardial infarction. In patients with chest pain that is compatible with myocardial ischemia, the characteristic ST-T-wave elevations that do not resolve with nitroglycerin (and are unlikely to be the result of an old infarction) become the basis for thrombolytic therapy or primary angioplasty. Rapid resolution of the ECG changes of myocardial infarction after reperfusion therapy has prognostic value and identifies patients with reperfused coronary arteries.

Evidence of conduction abnormalities may help explain the mechanism of bradyarrhythmias and the likelihood of the need for a pacemaker. Conduction abnormalities may also aid in determining the cause of heart disease. For example, right bundle branch block and left anterior fascicular block are often seen in Chagas' cardiomyopathy, and left-axis deviation occurs in patients with a primum atrial septal defect.

A newer form of electrocardiography is the signal-averaged, or high-resolution, electrocardiogram. This device markedly accentuates the QRS complex so that low-amplitude afterpotentials, which correlate with a propensity toward ventricular arrhythmias and sudden death, can be detected. The signal-averaged ECG permits a more accurate measurement of QRS duration, which also has prognostic significance of established value in the stratification of risk of developing sustained ventricular arrhythmias in postmyocardial infarction patients, patients with coronary artery disease and unexplained syncope, and patients with nonischemic cardiomyopathy.

Echocardiography

Another frequently ordered cardiac diagnostic test, echocardiography is based on the use of ultrasound directed at the heart to create images of cardiac anatomy and display them in real time on a television screen or oscilloscope. Two-dimensional echocardiography is usually accomplished by placing an ultrasound transducer in various positions on the anterior chest and obtaining cross-sectional images of the heart and great vessels in a variety of standard planes. In general, two-dimensional echocardiography is excellent for detecting any anatomic abnormality of the heart and great vessels. In addition, because the heart is seen in real time, this modality can assess the function of cardiac chambers and valves throughout the cardiac cycle.

Transesophageal echocardiography (TEE) involves the placement of smaller ultrasound probes on a gastroscopic device for placement in the esophagus behind the heart; it produces much higher resolution images of posterior cardiac structures. TEE has made it possible to detect left atrial thrombi, small mitral valve vegetations, and thoracic aortic dissection with a high degree of accuracy.

The older analog echocardiographic display referred to as M-mode, motion-mode, or time-motion mode, is currently used for its high axial and temporal resolution. It is superior to two-dimensional echocardiography for measuring the size of structures in its axial direction, and its 1/1000-s sampling rate allows for the resolution of complex cardiac motion patterns. Its many disadvantages, including poor lateral resolution and the inability to distinguish whole heart motion from the motion of individual cardiac structures, have relegated it to a supporting role.

Doppler ultrasound can be combined with two-dimensional imaging to investigate blood flow in the heart and great vessels. It is based on determining the change in frequency (caused by the movement of blood in the given structure) of the reflected ultrasound compared with the transmitted ultrasound, and converting this difference into flow velocity. Color-flow Doppler echocardiography is most frequently used. In this technique, frequency shifts in each pixel of a selected area of the two-dimensional image are measured and converted into a color, depending on the direction of flow, the velocity, and the presence or absence of turbulent flow. When these color images are superimposed on the two-dimensional echocardiographic image, a moving color image of blood flow in the heart is created in real time. This is extremely useful for detecting regurgitant blood flow across cardiac valves and any abnormal communications in the heart.

Because color-flow imaging cannot resolve very high velocities, another Doppler mode must be used to quantitate the exact velocity and estimate the pressure gradient of the flow when high velocities are suspected. Continuous-wave Doppler, which almost continuously sends and receives ultrasound along a beam that can be aligned through the heart, is extremely accurate at resolving very high velocities such as those encountered with valvular aortic stenosis. The disadvantage of this technique is that the source of the high velocity within the beam cannot always be determined but must be assumed, based on the anatomy through which the beam passes. When there is ambiguity about the source of the high velocity, pulsed-wave Doppler is more useful. This technique is range-gated such that specific areas along the beam (sample volumes) can be investigated. One or more sample volumes can be examined and determinations made concerning the exact location of areas of high-velocity flow.

Two-dimensional echocardiographic imaging of dynamic left ventricular cross-sectional anatomy and the superimposition of a Doppler color-flow map provide more information than the traditional left ventricular cine-angiogram can. Ventricular wall motion can be interrogated in multiple planes, and left ventricular wall thickening during systole (an important measure of myocardial viability) can be assessed. In addition to demonstrating segmental wall motion abnormalities, echocardiography can estimate left ventricular volumes and ejection fraction. In addition, valvular regurgitation can be assessed at all four valves with the accuracy of the estimated severity equivalent to contrast angiography.

Doppler echocardiography has now largely replaced cardiac catheterization for deriving hemodynamics to estimate the severity of valve stenosis. Recorded Doppler velocities across a valve can be converted to pressure gradients by use of the simplified Bernoulli equation (pressure gradient = 4 x velocity2). Cardiac output can be measured by Doppler from the velocity recorded at cardiac anatomic sites of known size visualized on the two-dimensional echocardiographic image. Cardiac output and pressure gradient data can be used to calculate the stenotic valve area with remarkable accuracy. A complete echocardiographic examination including two-dimensional and M-mode anatomic and functional visualization, and color-, pulsed-, and continuous-wave Doppler examination of blood flow provides a considerable amount of information about cardiac structure and function. A full discussion of the usefulness of this technique is beyond the scope of this chapter, but individual uses of echocardiography will be discussed in later chapters.

Unfortunately, echocardiography is not without its technical difficulties and pitfalls. Like any noninvasive technique, it is not 100% accurate. Furthermore, it is impossible to obtain high-quality images or Doppler signals in as many as 5% of patients—especially those with emphysema, chest wall deformities, and obesity. Although TEE has made the examination of such patients easier, it does not solve all the problems of echocardiography. Despite these limitations, the technique is so powerful that it has moved out of the noninvasive laboratory and is now frequently being used in the operating room, the emergency room, and even the cardiac catheterization laboratory, to help guide procedures without the use of fluoroscopy.

Nuclear Cardiac Imaging

Nuclear cardiac imaging involves the injection of tracer amounts of radioactive elements attached to larger molecules or to the patient's own blood cells. The tracer-labeled blood is concentrated in certain areas of the heart, and a gamma ray detection camera is used to detect the radioactive emissions and form an image of the deployment of the tracer in the particular area. The single-crystal gamma camera produces planar images of the heart, depending on the relationship of the camera to the body. Multiple-head gamma cameras, which rotate around the patient, can produce single-photon emission computed tomography, displaying the cardiac anatomy in slices, each about 1-cm thick.

Myocardial Perfusion Imaging

The most common tracers used for imaging regional myocardial blood-flow distribution are thallium-201 and the technetium-99m-based agents, sestamibi and teboroxime. Thallium-201, a potassium analog that is efficiently extracted from the bloodstream by viable myocardial cells, is concentrated in the myocardium in areas of adequate blood flow and living myocardial cells. Thallium perfusion images show defects (a lower tracer concentration) in areas where blood flow is relatively reduced and in areas of damaged myocardial cells. If the damage is from frank necrosis or scar tissue formation, very little thallium will be taken up; ischemic cells may take up thallium more slowly or incompletely, producing relative defects in the image.

Myocardial perfusion problems are separated from nonviable myocardium by the fact that thallium eventually washes out of the myocardial cells and back into the circulation. If a defect detected on initial thallium imaging disappears over a period of 3–24 h, the area is presumably viable. A persistent defect suggests a myocardial scar. In addition to detecting viable myocardium and assessing the extent of new and old myocardial infarctions, thallium-201 imaging can also be used to detect myocardial ischemia during stress testing (see item 5. Stress Testing) as well as marked enlargement of the heart or dysfunction. The major problem with thallium imaging is photon attenuation because of chest wall structures, which can give an artifactual appearance of defects in the myocardium.

The technetium-99m-based agents take advantage of the shorter half-life of technetium (6 h; thallium 201's is 73 h); this allows for use of a larger dose, which results in higher energy emissions and higher quality images. Technetium-99m's higher energy emissions scatter less and are attenuated less by chest wall structures, reducing the number of artifacts. Because sestamibi undergoes considerably less washout after the initial myocardial uptake than thallium does, the evaluation of perfusion versus tissue damage requires two separate injections. Teboroxime, on the other hand, undergoes rapid washout after its initial accumulation in the myocardium, and imaging must be completed within 8 min after injection. It is used to detect rapid changes in the patient's status caused by dynamic changes in coronary patency that are produced by progression of the disease or the effects of treatment.

In addition to detecting perfusion deficits, myocardial imaging with the single-photon emission computed tomography (SPECT) system allows for a three-dimensional reconstruction of the heart, which can be displayed in any projection on a monitor screen. Such images can be formed at intervals during the cardiac cycle to create an image of the beating heart, which can be used to detect wall motion abnormalities and derive left ventricular volumes and ejection fraction. Matching wall motion abnormalities with perfusion defects provides additional confirmation that the perfusion defects visualized are true and not artifacts of photon attenuation. Also, extensive perfusion defects and wall motion abnormalities should be accompanied by decreases in ejection fraction.

Radionuclide Angiography

Radionuclide angiography is based on visualizing radioactive tracers in the cavities of the heart over time. Radionuclide angiography is usually done with a single gamma camera in a single plane, and only one view of the heart is obtained. The most common technique is to record the amount of radioactivity received by the gamma camera over time and plot it. Although volume estimates by radionuclide angiography are not as accurate as those obtained by other methods, the ejection fraction is quite accurate. Wall motion can be assessed in the one plane imaged, but the technique is not as sensitive as other imaging modalities for detecting wall motion abnormalities.

Of the two basic techniques for performing radionuclide angiography, the oldest is the first-transit technique. This requires injecting a bolus of technetium-99m and observing its movement through the venous system into the right heart, pulmonary circulation, and finally to the left heart and the aorta. Because the sampling rate is relatively short in relation to the ECG R-R interval, it is possible to sample at least one cardiac cycle in each chamber of the heart. By determining the change in radioactivity over time, it is possible to measure the stroke volume or ejection fraction for each ventricle or chamber. The more popular radionuclide angiographic technique is multiple-gated acquisition (MUGA), or equilibrium-gated blood pool, radionuclide angiography. In this approach, technetium-99m is used to label the patient's own red blood cells, which remain within the vascular space, allowing imaging studies to be acquired for several hours. Imaging acquisition is synchronized with the R wave of the ECG, so that the lower amounts of radioactivity generated from this equilibrium technique can be accumulated from beat to beat. Once enough counts are collected in each phase of the cardiac cycle, the camera computer generates a composite cardiac cycle, with the final time/activity curve and imaging representing a composite of approximately 200 heart beats. MUGA is well suited for exercise stress testing because one injection of isotope can be used for both the resting and the exercise studies. Because many heart beats must be collected, imaging during exercise must be done during steady-state periods, when no marked fluctuations are present in heart rate. One limitation of the technique is that sudden beat-to-beat changes in left ventricular performance are obscured by the averaging technique. Because ischemic heart disease often results in such changes, the exercise MUGA has lost favor as a technique for detecting ischemic heart disease, since its sensitivity is not as high as other techniques. Currently, the major use of MUGA is to assess left ventricular performance (ejection fraction), especially in patients with technically inadequate echocardiograms.

Other Cardiac Imaging

Plain-Film Chest Radiography

Plain-film chest radiography is used infrequently now for evaluating cardiac structural abnormalities because of the superiority of echocardiography in this regard. The chest x-ray film, however, has no equal for assessing pulmonary anatomy and is very useful for evaluating pulmonary venous congestion and hypoperfusion or hyperperfusion. In addition, abnormalities of the thoracic skeleton are found in certain cardiac disorders and radiographic corroboration may help with the diagnosis. Detection of intracardiac calcium deposits by the x-ray film or fluoroscopy is of some value in finding coronary artery, valvular, or pericardial disease.

Computed Tomographic Scanning

Computed tomography (CT) has been applied to cardiac imaging, but the image suffers because of the motion of the heart. Computed tomography has done a better job with evaluating the thoracic aorta and the pericardium, which are less mobile than the heart. Both these structures are more accurately evaluated with magnetic resonance imaging (MRI), however. Electron beam computed tomography (EB-CT) solves some of the motion problems and can be used more successfully for cardiac imaging. The major application of this newer technology to date has been the detection of small amounts of coronary artery calcium as an indicator of atherosclerosis in the coronary arterial tree. Although this technique has tremendous potential, its actual clinical utility, compared with other standard approaches is controversial.

Magnetic Resonance Imaging

Magnetic resonance imaging (MRI) probably has the most potential as a technique for evaluating cardiovascular disease. It is excellent for detecting aortic dissection and pericardial thickening and assessing left ventricular mass. Newer computer analysis techniques have solved the problem of myocardial motion and can be used to detect flow in the heart, much as color-flow Doppler is used. In addition, regional molecular disturbances can be created that place stripes of a different density in either the myocardium or the blood; these can then be followed through the cardiac cycle to determine structural deformation (eg, of the left ventricular wall) or the movement of the blood. When its full potential is reached, MRI might well compete successfully, in terms of image quality and information obtained, with Doppler echocardiography. Unfortunately, MRI studies take a long time to perform and are not readily done in sick patients who need a bedside evaluation; it is not likely to replace echocardiography in the near future.

Positron Emission Tomography

Positron emission tomography (PET) is a technique using tracers that simultaneously emit two high-energy photons. A circular array of detectors around the patient can detect these simultaneous events and accurately identify their origin in the heart. This results in improved spatial resolution, compared with single-photon emission computed tomography. It also allows for correction of tissue photon attenuation, resulting in the ability to accurately quantify radioactivity in the heart. PET scanning can be used to assess myocardial perfusion and myocardial metabolic activity separately by using different tracers coupled to different molecules. Most of the tracers developed for clinical use require a cyclotron for their generation; the cyclotron must be in close proximity to the PET imager because of the short half-life of the agents. Agents in clinical use include oxygen-15 (half-life 2 min), nitrogen-13 (half-life 10 min), carbon-11 (half-life 20 min) and fluorene-18 (half-life 110 min). These tracers can be coupled to many physiologically active molecules for assessing various functions of the myocardium. Because rubidium-82, with a half-life of 75 s, does not require a cyclotron and can be generated on-site, it is frequently used with PET scanning, especially for perfusion images. Ammonia containing nitrogen-13 and water containing oxygen-15 are also used as perfusion agents. C-11-labeled fatty acids and 18F fluorodeoxyglucose are common metabolic tracers used to assess myocardial viability, and acetate containing carbon-11 is often used to assess oxidative metabolism.

The main clinical uses of PET scanning involve the evaluation of coronary artery disease. It is used in perfusion studies at rest and during pharmacologic stress (exercise studies are less feasible). In addition to a qualitative assessment of perfusion defects, PET allows for a calculation of absolute regional myocardial blood flow or blood flow reserve. PET also assesses myocardial viability, using the metabolic tracers to detect metabolically active myocardium in areas of reduced perfusion. The presence of viability imply that returning perfusion to these areas would result in improved function of the ischemic myocardium. Although many authorities consider PET scanning the gold standard for determining myocardial viability, it has not been found to be 100% accurate. Thallium reuptake techniques and echocardiographic and MR imaging of wall-thickening characteristics have proved equally valuable for detecting myocardial viability in clinical studies.

Stress Testing

Stress testing in various forms is most frequently applied in cases of suspected or overt ischemic heart disease (Table 1-3). Because ischemia represents an imbalance between myocardial oxygen supply and demand, exercise or pharmacologic stress increases myocardial oxygen demand and reveals an inadequate oxygen supply (hypoperfusion) in diseased coronary arteries. Stress testing can thus induce detectable ischemia in patients with no evidence of ischemia at rest. It is also used to determine cardiac reserve in patients with valvular and myocardial disease. Deterioration of left ventricular performance during exercise or other stresses suggests a diminution in cardiac reserve that would have therapeutic and prognostic implications. Although most stress test studies use some technique (Table 1-4) for directly assessing the myocardium, it is important not to forget the symptoms of angina pectoris or extreme dyspnea: light-headedness or syncope can be equally important in evaluating patients. Physical findings such as the development of pulmonary rales, ventricular gallops, murmurs, peripheral cyanosis, hypotension, excessive increases in heart rate, or inappropriate decreases in heart rate also have diagnostic and prognostic value. It is therefore important that a symptom assessment and physical examination always be done before, during, and after stress testing.

Electrocardiographic monitoring is the most common cardiac evaluation technique used during stress testing; it should be part of every stress test in order to assess heart rate and detect any arrhythmias. In patients with normal resting ECGs, diagnostic ST depression of myocardial ischemia has a fairly high sensitivity and specificity for detecting coronary artery disease in symptomatic patients if adequate stress is achieved (peak heart rate at least 85% of the patient's maximum predicted rate, based on age and gender). Exercise ECG testing is an excellent low-cost screening procedure for patients with chest pain consistent with coronary artery disease, normal resting ECGs, and the ability to exercise to maximal age- and gender-related levels.

A myocardial imaging technique is usually added to the exercise evaluation in patients whose ECGs are abnormal or, for some reason, less accurate. It is also used for determining the location and extent of myocardial ischemia in patients with known coronary artery disease. Imaging techniques, in general, enhance the sensitivity and specificity of the tests but are still not perfect, with false-positives and -negatives occurring 5–10% of the time.

Which adjunctive myocardial imaging technology to choose depends on the quality of the tests, their availability and cost, and the services provided by the laboratory. If these are all equal, the decision should be based on patient characteristics. For example, echocardiography might be appropriate for a patient suspected of developing ischemia during exercise profound enough to depress segmental left ventricular performance and worsen mitral regurgitation. On the other hand, in a patient with known three-vessel coronary artery disease and recurrent angina after revascularization, perfusion scanning might be the best test to determine which coronary artery is producing the symptoms.

Choosing the appropriate form of stress is also important (Table 1-5). Exercise, the preferred stress for increasing myocardial oxygen demand, also simulates the patient's normal daily activities and is therefore highly relevant clinically. There are essentially only two reasons for not choosing exercise stress, however: the patient's inability to exercise adequately because of physical or psychologic limitations; or the chosen test cannot be performed readily with exercise (eg, PET scanning). In these situations, pharmacologic stress is appropriate.

Cardiac Catheterization

Cardiac catheterization is now mainly used for the assessment of coronary artery anatomy by coronary angiography. In fact, the cardiac catheterization laboratory has become more of a therapeutic than a diagnostic arena. Once significant coronary artery disease is identified, a variety of catheter-based interventions can be used to alleviate the obstruction to blood flow in the coronary arteries. At one time, hemodynamic measurements (pressure, flow, oxygen consumption) were necessary to accurately diagnose and quantitate the severity of valvular heart disease and intracardiac shunts. Currently, Doppler echocardiography has taken over this role almost completely, except in the few instances when Doppler studies are inadequate or believed to be inaccurate. Catheter-based hemodynamic assessments are still useful for differentiating cardiac constriction from restriction, despite advances in Doppler echocardiography. Currently, the catheterization laboratory is also more often used as a treatment arena for valvular and congenital heart disease. Certain stenotic valvular and arterial lesions can be treated successfully with catheter-delivered balloon expansion.

Myocardial biopsy is necessary to treat patients with heart transplants and is occasionally used to diagnose selected cases of suspected acute myocarditis. For this purpose, a biotome is usually placed in the right heart and several small pieces of myocardium are removed. Although this technique is relatively safe, myocardial perforation occasionally results.

Electrophysiologic Testing

Electrophysiologic testing uses catheter-delivered electrodes in the heart to induce rhythm disorders and detect their structural basis. Certain arrhythmia foci and structural abnormalities that facilitate rhythm disturbances can be treated by catheter-delivered radiofrequency energy (ablation) or by the placement of various electronic devices that monitor rhythm disturbances and treat them accordingly through either pacing or internally delivered defibrillation shocks. Electrophysiologic testing and treatment now dominate the management of arrhythmias; the test is more accurate than the surface ECG for diagnosing many arrhythmias and detecting their substrate, and catheter ablation and electronic devices have been more successful than pharmacologic approaches at treating arrhythmias.

Test Selection

In the current era of escalating health-care costs, ordering multiple tests is rarely justifiable, and the physician must pick the one test that will best define the patient's problem. Unfortunately, cardiology offers multiple competing technologies that often address the same issues, but only in a different way. The following five principles should be followed when considering which test to order:

       

    What information is desired? If the test is not reasonably likely to provide the type of information needed to help the patient's problem, it should not be done, no matter how inexpensive and easy it is to obtain. At one time, for example, routine preoperative ECGs were done prior to major noncardiac surgery to detect which patients might be at risk for cardiac events in the perioperative period. Once it was determined that the resting ECG was not good at this, the practice was discontinued, despite its low cost and ready availability.

       

    What is the cost of the test? If two tests can provide the same information and one is much more expensive than the other, the less expensive test should be ordered. For example, to determine whether a patient's remote history of prolonged chest pain was a myocardial infarction, the physician has a choice of an ECG or one of several imaging tests, such as echocardiography, resting thallium-201 scintigraphy, and the like. Because the ECG is the least expensive test, it should be performed for this purpose in most situations.

       

    Is the test available? Sometimes the best test for the patient is not available in the given facility. If it is available at a nearby facility and the patient can go there without undue cost, the test should be obtained. If expensive travel is required, the costs and benefits of that test versus local alternatives need to be carefully considered.

       

    What is the level of expertise of the laboratory and the physicians who interpret the tests? For many of the high-technology imaging tests, the level of expertise considerably affects the value of the test. Myocardial perfusion imaging is a classic example of this. Some laboratories are superlative in producing tests of diagnostic accuracy. In others, the numbers of false-positives and -negatives is so high as to render the tests almost worthless. Therefore, even though a given test may be available and inexpensive and could theoretically provide essential information, if the quality of the laboratory is not good, an alternative test should be sought.

       

    What quality of service is provided by the laboratory? Patients are customers, and they need to be satisfied. If a laboratory makes the patients wait a long time, if it is tardy in getting the results to the physicians, or if great delays occur in accomplishing the test, choose an alternative lab (assuming, of course, that alternatives are available). Poor service cannot be tolerated.

Many other situations and considerations affect the choice of tests. For example, a young patient with incapacitating angina might have a high likelihood of having single-vessel disease that would be amenable to catheter-based revascularization. It might be prudent to take this patient directly to coronary arteriography with an eye toward diagnosing and treating the patient's disease in one setting for maximum cost-effectiveness. This approach, however, presents the risk of ordering an expensive catheterization rather than a less-expensive noninvasive test if the patient does not have significant coronary disease. If an assessment of left ventricular global performance is desirable in a patient known to need coronary arteriography, the assessment could be done by left ventricular cine-angiography at the time of cardiac catheterization. This would avoid the extra expense of echocardiography if it was not otherwise indicated. Physicians are frequently solicited to use the latest emerging technologies, which often have not been proved better than the standard techniques. It is generally unwise to begin using these usually more expensive methods until clinical trials have established their efficacy and cost-effectiveness.

General Considerations

The patient's history is a critical feature in the evaluation of suspected or overt heart disease. It includes information about the present illness, past illnesses, and the patient's family. From this information, a chronology of the patient's disease process should be constructed. Determining what information in the history is useful requires a detailed knowledge of the pathophysiology of cardiac disease. The effort spent on listening to the patient is time well invested because the cause of cardiac disease is often discernible from the history.

Common Symptoms

Chest Pain

Chest pain is one of the cardinal symptoms (Table 1-1) of ischemic heart disease, but it can also occur with other forms of heart disease. The five characteristics of ischemic chest pain, or angina pectoris, are

       
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