What is the differential diagnosis for an adult patient presenting with symptoms suggestive of heart failure?

Differential Diagnosis for Heart Failure

When evaluating an adult patient with suspected heart failure, you must systematically exclude alternative diagnoses that can mimic heart failure symptoms, particularly focusing on incorrect HF diagnosis, primary valvular disease, restrictive cardiomyopathies, pericardial constriction, high-output states, and chronic pulmonary disease. 1

Primary Differential Considerations

Incorrect Diagnosis or Measurement Error

• Inaccurate measurement of left ventricular ejection fraction can lead to misclassification, particularly when distinguishing HF with preserved EF (HFpEF) from HF with reduced EF (HFrEF) 1
• Clinical diagnosis accuracy is inadequate when relying on symptoms alone, especially in women, elderly patients, and obese individuals where objective testing with echocardiography and natriuretic peptides is mandatory 2
• Response to diuretics or nitrates alone is insufficient to confirm heart failure diagnosis 2

Cardiac Structural Abnormalities

Primary valvular disease must be excluded, particularly aortic stenosis and mitral regurgitation, as these can present with identical symptoms but require different management strategies 1

Restrictive (infiltrative) cardiomyopathies including:

• Amyloidosis 1
• Sarcoidosis 1
• Hemochromatosis 1

Pericardial constriction can mimic heart failure with elevated jugular venous pressure and peripheral edema but requires surgical intervention rather than medical HF therapy 1

Atrial myxoma is a rare but important consideration that presents with constitutional symptoms and can obstruct cardiac flow 1

Episodic or Reversible Conditions

Episodic or reversible LV systolic dysfunction caused by:

• Severe hypertension (hypertensive emergency) 1
• Acute myocardial ischemia 1

These conditions may resolve with treatment of the underlying cause and do not represent chronic heart failure 1

High-Output States

Heart failure associated with high metabolic demand includes:

• Severe anemia 1
• Thyrotoxicosis 1
• Arteriovenous fistulas 1

These conditions increase cardiac output requirements beyond the heart's capacity, producing HF symptoms despite normal or even supranormal cardiac function 1

Pulmonary Causes

Chronic pulmonary disease with right heart failure must be distinguished from left-sided heart failure, as management differs significantly 1

Pulmonary hypertension associated with pulmonary vascular disorders can cause right ventricular failure and peripheral edema without primary left ventricular dysfunction 1

Diastolic Dysfunction

Diastolic dysfunction of uncertain origin, particularly in the context of obesity, represents a challenging diagnostic category where symptoms may be multifactorial 1

Diagnostic Approach to Exclude Mimics

Essential Initial Testing

Obtain thorough medication and exposure history documenting current and past alcohol use, illicit drugs, chemotherapy exposure (cardiotoxins), and alternative therapies 1, 3

Physical examination must assess:

• Volume status and jugular venous pressure elevation 1, 3
• Orthostatic blood pressure changes 1, 3
• Displaced cardiac apex beat 3, 4
• Pulmonary rales and pleural effusions 2, 4
• Heart murmurs suggesting valvular disease 4
• Peripheral edema and hepatomegaly 2, 5

Mandatory Laboratory and Imaging Studies

Initial laboratory evaluation should include complete blood count (to exclude anemia), thyroid-stimulating hormone (to exclude thyrotoxicosis), serum electrolytes, blood urea nitrogen, serum creatinine, fasting blood glucose, and liver function tests 1, 3

12-lead electrocardiogram is mandatory to identify arrhythmias, conduction abnormalities, left ventricular hypertrophy, or evidence of prior myocardial infarction 1, 3

Chest radiograph (PA and lateral) evaluates for cardiomegaly, pulmonary venous congestion, interstitial edema, pleural effusions, and Kerley B lines, while also identifying primary pulmonary disease 1, 3

Two-dimensional echocardiography with Doppler is the definitive test to determine LVEF, assess chamber size, wall thickness, regional wall motion abnormalities, valve function, and identify restrictive physiology or pericardial disease 1, 3

BNP or NT-proBNP measurement provides the most powerful supplementary diagnostic value when clinical diagnosis remains uncertain, with normal levels making systolic heart failure unlikely 1, 3, 4

Advanced Testing When Diagnosis Remains Uncertain

Coronary arteriography should be performed in patients with angina or significant ischemia to exclude coronary artery disease as the primary etiology or identify reversible ischemic dysfunction 1

Noninvasive imaging to detect myocardial ischemia and viability is reasonable in patients with known coronary artery disease but no angina 1

Common Pitfalls to Avoid

Do not diagnose heart failure based solely on symptoms such as dyspnea, fatigue, or edema without objective evidence of cardiac structural or functional abnormality 2

Do not rely on clinical examination alone in elderly, obese, or female patients where physical findings are less reliable 2

Do not assume all patients with reduced LVEF have symptomatic heart failure requiring treatment, as Stage B patients (structural disease without symptoms) have different therapeutic goals 1, 6

Do not overlook reversible causes such as severe hypertension, acute ischemia, thyrotoxicosis, or severe anemia that may resolve with treatment of the underlying condition 1

Always identify and document the underlying etiology of heart failure, as ischemic cardiomyopathy (40% of cases) and hypertensive heart disease (17-31% of cases) require specific additional interventions 2