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INTRODUCTION A patient presenting to a physician or to emergency services with the new onset of dyspnea on exertion or with new lower extremity edema represents a challenge, sometimes of major proportions, to the treating physician. While such symptoms are sometimes accompanied by obvious evidence of heart failure, it is often the case that their cause is not clear and other disease entities as primary or contributing factors need to be entertained. In this situation, it is helpful to pursue a standardized, or at least organized, approach to sorting out the issues and arriving at a diagnosis or diagnoses. This chapter will discuss suggested approaches to the various presenting symptoms.
DYSPNEA—THE HISTORY The sensation of dyspnea, defined as difficult or labored breathing, is a normal sensation in healthy people after strenuous exertion and in deconditioned people after moderate exertion. It is considered abnormal when it occurs with activity previously well-tolerated or at rest. Dyspnea that occurs only at rest and not with exercise is almost always functional. It is a most distressing symptom for most patients, and when they develop dyspnea as a consequence of customary physical exertion many will initially instinctively curtail their physical activity in order to avoid the sensation. In obtaining a history, it is often helpful to inquire about daily activity levels and whether these have decreased in any subtle ways, even predating the patient’s awareness of symptoms. A slow onset of progressive symptoms can be compatible with heart failure, and also with primary pulmonary disease (asthma, chronic obstructive pulmonary disease [COPD], pleural disease or effusions, etc.), anxiety, or simple poor physical conditioning or obesity. More abrupt onset or change of symptoms is more suggestive of heart failure, but is also compatible with pneumothorax,pulmonary embolism, or pulmonary infection. Since heart and lung disease often coexist, the determination of which contributes primarily to a patient’s symptomatic deterioration can be most difficult.
Further inquiry regarding respiratory symptoms should look for accompanying ones to suggest heart failure; specifically, to elicit (or exclude) the symptoms of orthopnea or paroxysmal nocturnal dyspnea (PND). Orthopnea, defined as difficult breathing except in the upright position, is due to a further increase in an elevated pulmonary capillary hydrostatic pressure in the supine position causing interstitial and alveolar edema and stiffening of the lungs. Many patients with heart failure instinctively sleep with one or more extra pillows to avoid the unpleasant sensation of dyspnea. The symptom of true orthopnea is distinctly uncommon in the absence of elevated pulmonary capillary pressure and its presence is a strong suggestion pointing to the cardiac cause of dyspnea.
PND, the often quite frightening onset of dyspnea, cough, and diaphoresis occurring several hours after the onset of sleep and often recurring during the night, is a second symptom, which is most strongly suggestive of heart failure as a cause of dyspnea. The symptoms are relieved by sitting up or walking around; in true PND, the patient is not able to simply turn over and go back to sleep. Nocturnal dyspnea can be associated with pulmonary disease, but in that situation the symptom is usually relieved by coughing to clear secretions rather than by sitting up.
LOWER EXTREMITY EDEMA—THE HISTORY Edema in the lower extremities, usually starting in the feet and ascending to the ankles, pretibial area, and ultimately to the presacral area (as anasarca) is a characteristic complaint in heart failure and is generally accompanied by weight gain. Peripheral edema is due to fluid retention consequent to perturbed neurohormonal activation (as described in Chap. 4), which in turn leads to elevated right-sided venous filling pressures and transudation of fluid from the soft tissue capillaries in a gravity-related fashion, starting in the feet in the upright patient. It is felt that a weight gain of 5–10 lb of fluid is necessary to produce edema in the average-sized person.
Edema can, of course, be caused by things other than heart failure. These include venous insufficiency, renal insufficiency, and hypoproteinemia. Asymmetric distribution of edema is more characteristic of venous disease, but prior orthopedic injury or vein harvest with coronary artery bypass graft (CABG) can also be associated with more prominent edema in one extremity than the other. Edema affecting primarily the face and/or arms is rarely attributable to heart failure and should lead to investigation for a cause of venous or lymphatic obstruction at a higher level.
THE PHYSICAL EXAMINATION The physical examination can provide important clues to the underlying cause of dyspnea as well as edema. Inspection of the thorax can reveal a “barrel-shaped” configuration typical of emphysema or skeletal abnormalities such as severe kyphoscoliosis that can be associated with cor pulmonale. On auscultation of the lungs during exaggerated respiration, crackles (or rales) can be heard in patients with elevated pulmonary venous pressure of any cause and generally occur according to the dictates of gravity over the lower lung fields first and ascend toward the apices as the pressures increase. However, in longstanding heart failure, the ability of the pulmonary lymphatic system to compensate for extra fluid transudation may resolve the existence of rales, and in chronic heart failure their presence has more to do with acuteness of decompensation than with severity of the disease. The same can be said for the wheezing (cardiac asthma) that often accompanies heart failure.
Palpation and auscultation of the heart can provide circumstantial evidence of structural heart disease to account for heart failure and the associated elevation of pulmonary venous pressures.
Murmurs suggestive of stenotic or regurgitant valvular lesions or congenital malformations are particularly important, as are diastolic filling sounds (S3 or S4). Such findings in themselves, however, do not necessarily mean that heart failure is the cause of dyspnea.
Inspection of the jugular venous pulse and examination of the abdomen can provide further evidence pointing to a cardiac etiology for edema. The internal jugular vein on the right side lies in a virtually straight line from the right atrium and best transmits pressures and waveforms from the atrium. Estimation of the height of the oscillating top of the column of blood in the internal jugular pulse is a fairly accurate measure of mean right atrial pressure. Elevation of the pressure 4 cm above the sternal angle (equal to central venous pressure of 9 cm) is abnormal. When edema is due to venous disease or hypoproteinemia, this pressure should be normal. If the jugular venous pressure is normal at rest, assessment of the presence of abdominal jugular reflux should be sought by applying pressure to the periumbilical region with the patient breathing quietly. In normal subjects, there can be at most a brief 3 cm increase in the jugular venous pressure. In patients with right or left ventricular failure, the jugular pressure can become markedly elevated and remain so for more than 15 seconds. With chronic and marked elevation of the jugular venous pressure, there can also be enlargement and even pulsatility of the liver as well as evidence of ascites on abdominal examination.
LABORATORY ASSESSMENT The history and physical examination can point strongly toward or away from the diagnosis of heart failure as the cause of a patient’s symptoms, but virtually always need to be supplemented by laboratory assessment. At its most basic, such assessment will include a chest x-ray, a 12-lead electrocardiogram, appropriate hematologic and blood chemistry determinations, and usually an echocardiogram. Abnormalities on any of these can point toward a diagnosis of heart failure, but no single finding is diagnostic of heart failure. There is increasing recognition that many patients with heart failure, especially the elderly and women, have predominantly diastolic (as opposed to systolic) dysfunction.1–3 In the past, these patients often had their symptoms attributed to the normal consequence of aging or other coexistent illnesses when their systolic function was shown to be normal on the echocardiogram. However, it is clear that the presence of a normal left ventricular ejection fraction on echocardiography does not exclude the diagnosis of heart failure, nor are indices of diastolic function sufficiently sensitive or reproducible enough to exclude the diagnosis.
Because of the lack of sensitivity of all of these assessment modalities, there have been efforts in recent years to identify alternative means of diagnosing heart failure. Two such tests, measurements of brain natriuretic peptide (BNP) and N-terminal prohormone brain natriuretic peptide (proBNP) have been shown to improve the accuracy of heart failure diagnosis when combined with clinical judgment in an urgent care setting.4,5 The utility of the measurement of BNP levels in the urgent care setting has led to the assumption that the assay might also be useful in the diagnosis and management of chronic heart failure. However, elevation of these peptides occurs not only with elevation of left ventricular filling pressures, but also with acute myocardial infarction and can occur with acute pulmonary embolism.6 Levels are less elevated in obese patients with heart failure and in those with heart failure associated with preserved ejection fraction, although a normal BNP in association with a normal echocardiogram in a patient with dyspnea makes the diagnosis of heart failure unlikely.7,8 Levels are also sensitive to factors such as age, gender, and renal function.9,10 At the present time, elevated levels of either BNP or N-terminal proBNP certainly lend weight to a clinically suspected diagnosis of heart failure and may lead to consideration of heart failure when the diagnosis is unknown, but should not be used in isolation to confirm or exclude the diagnosis or to guide therapy.11,12
Situations when cardiac and pulmonary diseases most likely coexist present the most challenging diagnostic dilemma. When the contribution of heart failure to the limitation of exercise limitation is an issue, maximal exercise testing with measurement of respiratory gas exchange and/or blood oxygen saturation can be useful to differentiate cardiac versus pulmonary limitations.13
CONCLUSION There is no one definitive diagnostic test for heart failure and its diagnosis depends heavily on the clinical skills and judgment of the physician supplemented by the choice of appropriate testing (Fig. 7-1).
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