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Heart failure

Diagnosis

Diagnosis of heart failure1-3

The diagnosis of heart failure can be challenging, particularly in its early stages. The signs and symptoms can be nonspecific and closely overlap those of other conditions, such as lung disease, obesity, hypothyroidism and anemia1. Measurement of plasma concentrations of brain natriuretic peptide (BNP) or the N-terminal prohormone of BNP (NT-proBNP) is a mainstay for the diagnosis of heart failure, with excellent sensitivity and negative predictive value2. Transthoracic echocardiography (TTE) is frequently used to determine the presence of systolic and/or diastolic dysfunction, which can confirm a diagnosis of heart failure with reduced ejection fraction (HFrEF) (when ejection fraction is ≤40%). TTE is also helpful for the determination of valvular function, the presence of left ventricular hypertrophy and the degree of pulmonary hypertension, among other parameters that can help to guide further management1.

The diagnosis of chronic heart failure (CHF) requires the presence of symptoms and/or signs of HF and objective evidence of cardiac dysfunction (Figure 1). Typical symptoms include breathlessness, fatigue, and ankle swelling. Symptoms and signs lack sufficient accuracy to be used alone to make the diagnosis of HF.3

The diagnosis of CHF is made more likely in patients with a history of MI, arterial hypertension, CAD, diabetes mellitus, alcohol misuse, chronic kidney disease (CKD), cardiotoxic chemotherapy, and in those with a family history of CMP or sudden death.3

Diagnosis_Fig1

Figure 1. 2021 ESC guideline. The diagnostic algorithm for heart failure3.

Definition of HFrEF, HFmrEF and HFpEF3

Traditionally, heart failure has been divided into distinct phenotypes based on the measurement of left ventricular ejection fraction (LVEF). The rationale behind this relates to the original treatment trials in HF that demonstrated substantially improved outcomes in patients with LVEF ≤40%. However, heart failure spans the entire range of LVEF (a normally distributed variable), and measurement by echocardiography is subject to substantial variability. (Table 1)

The 2016 ESC heart failure guidelines introduced a third EF category for an EF of 40–49%, defined as heart failure with mid-range EF. This category has been largely unexplored compared with HFrEF and HFpEF.4 Retrospective analyses from RCTs in HFrEF or HFpEF that have included patients with ejection fractions in the 40-50% range suggest that they may benefit from similar therapies to those with LVEF ≤40%. This supports the renaming of HFmrEF from “heart failure with mid-range ejection fraction” to “heart failure with mildly reduced ejection fraction (HFmrEF)”3. HFmrEF is milder than HFrEF, and the risk of cardiovascular events is lower in patients with HFmrEF or HFpEF than in those with HFrEF.4

Table 1. Definition of HFrEF, HFmrEF and HFpEF3

Type of HF HFrEF HFmrEF HFpEF
CRITERIA 1 Symptoms ± Signs* Symptoms ± Signs* Symptoms ± Signs*
2 LVEF ≤40% LVEF ≤41-49%† LVEF ≥50%
3 - - Objective evidence of cardiac structural and/or functional abnormalities consistent with the presence of LV diastolic dysfunction/raised LV filling pressures, including raised natriuretic peptides‡

Additional techniques, such as the evaluation of a patient’s medical history, physical examination, and the use of biomarkers, imaging and physiological recordings of the heart can be used to determine the etiology of heart failure, the presence of congestion and/or hypoperfusion, and prognostic factors.1

Medical history and physical examination1

The initial medical history of a patient should include the identification of risk factors and both cardiovascular and non-cardiovascular precipitating factors of heart failure, in addition to the presence of comorbid conditions. A family history of sudden cardiac death or clinical heart failure can help to identify genetic or familial cases.1

The initial physical evaluation of the patient should begin with a careful assessment of vital signs (that is, temperature, pulse, blood pressure and respiratory rate). Further physical evaluations should confirm the presence of congestion and should assess cardiac output. In the acute setting, physical examination should be used to determine the hemodynamic classification of the patient to aid both management and prognostication1.

Laboratory testing1

Laboratory evaluation can include the assessment of renal function (using blood urea nitrogen levels, creatinine levels and the measurement or estimation of the glomerular filtration rate) and the measurement of serum potassium levels, which can have therapeutic implications and be used to identify reversible etiologies of heart failure. Other laboratory tests, such as those aimed at ruling out alternative etiologies of heart failure, should be individualized based on the patient’s history and clinical presentation. Genetic testing can be used to identify the cause of some precipitating factors of HFrEF1. Cardiopulmonary exercise testing can help to correlate the symptoms of dyspnea and fatigue with metabolic, cardiovascular and pulmonary responses to exercise1.

Imaging1,2

Cardiac MRI has better accuracy and reproducibility than echocardiography, with better tissue characterization and spatial resolution that help in the diagnosis of inflammatory and infiltrative conditions2.

Chest X-­ray is limited by low sensitivity and specificity for detecting pulmonary congestion, as substantial left ventricular dysfunction and volume overload can exist in the presence of a normal radiographic study. However, chest X­-ray remains an important component of evaluation as it helps to detect cardiac enlargement and non­cardiac pulmonary pathology that can influence clinical presentation. Single-photon emission CT or PET imaging can be used to assess the presence of ischemia and myocardial viability1.

Footnotes:

  • * Signs may not be present in the early stages of HF (especially in HFpEF) and in optimally treated patients.
  • † For the diagnosis of HFmrEF, the presence of other evidence of structural heart disease (e.g. increased left atrial size, LV hypertrophy or echocardiographic measures of 
    impaired LV filling) makes the diagnosis more likely.
  • ‡ For the diagnosis of HFpEF, the greater the number of abnormalities present, the higher the likelihood of HFpEF.
  • BNP, brain natriuretic peptide; CAD, coronary artery disease; CHT, chronic heart failure; CKD, chronic kidney disease; CMP, cardiomyopathy; CT, computed tomography; ECG, 
    electrocardiogram; HF, heart failure; HFrEF, heart failure with reduced ejection fraction; HFpEF, heart failure with preserved ejection fraction; MR-proANP, mid-regional pro-atrial 
    natriuretic peptide; MI, myocardial infarction; MRI, magnetic resonance imaging; NPs, natriuretic peptides; NT-proBNP, N-terminal prohormone of BNP; PET, positron emission 
    tomography; TTE, transthoracic echocardiography.

References:

  1. Bloom MW, et al. Nat Rev Dis Primers. 2017;3:17058.

  2. Metra M, Teerlink JR. Lancet. 2017;390(10106):1981-1995.

  3. McDonagh TA, et al. Eur Heart J. 2021;ehab368.

  4. Savarese G, et al. Nat Rev Cardiol (2021).

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