Heart Failure Diagnosis and Investigation

oPatientPlus articles are written by UK doctors and are based on research evidence, UK and European Guidelines. They are designed for health professionals to use, so you may find the language more technical than the condition leaflets.

See also separate articles Heart failure management, Cardiac rehabilitation and Palliative care of heart failure.

Heart failure is a clinical syndrome characterised by:

  • Typical symptoms: breathlessness, fatigue, ankle swelling.
  • Typical signs: tachycardia, tachypnoea, pulmonary rales, pleural effusion, raised jugular venous pressure (JVP), peripheral oedema, hepatomegaly.
  • Objective evidence of a structural or functional abnormality of the heart at rest: cardiomegaly, third heart sound, cardiac murmurs, echocardiogram abnormalities, raised natriuretic peptide concentration.

The European Society of Cardiology (ESC) guidelines require that there be symptoms, signs and objective evidence present before a diagnosis of heart failure can be made.[1] Heart failure has a number of different aetiologies (see 'Aetiology', below) - always try to determine the cause. Heart failure should never be the only diagnosis, as it is a syndrome occurring as a result of other diagnostic entities.

Acute and chronic

Heart failure has traditionally been described as acute or chronic, but this can be confusing and should be used to describe time, rather than severity. New-onset (first presentation with acute or slow onset), transient (recurrent or episodic) and chronic (persistent whether stable, worsening or decompensated) heart failure may be a more useful classification.

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Systolic and diastolic

Similarly, a distinction is frequently made between systolic and diastolic heart failure. This is somewhat arbitrary and many patients with heart failure have evidence of both. Left ventricular systolic dysfunction (LVSD) is usually defined as an LV ejection fraction <40% on echocardiography. Some symptomatic patients have a normal ejection fraction and no obvious cause for increased myocardial demand. This condition has been variously termed diastolic heart failure, heart failure with preserved LV function, heart failure with a normal ejection fraction (HFNEF) or heart failure with preserved systolic function (HFPSF).[2]

High and low output

Certain medical conditions (see 'Aetiology', below) increase demands on cardiac output, causing a clinical picture of heart failure and this is known as high-output cardiac failure. The primary abnormality is not the heart and the heart failure is reversible with treatment. Low-output failure is where cardiac output is inadequate to perfuse the body (ie ejection fraction <40%), or can only be adequate with high filling pressures.

  • Prevalence of asymptomatic ventricular dysfunction is approximately 4%.
  • 1-2% of the adult population in developed countries has heart failure, with the prevalence rising to 10% in patients 70 years of age or older.[1]
  • Community estimates of prevalence vary from 1.6 to 4.6 cases per 1,000 in men aged 45-74 years and from 0.9 to 2.2 cases per 1,000 in women.[3]
  • In younger age groups, heart failure is more common in men because of the earlier onset of ischaemic heart disease (IHD).
  • Prevalence is increasing due to aging populations and improved survival after coronary events and secondary prevention.

A UK survey of heart failure management in general practice found an average prevalence of 8.3 per 1,000 population.[4]

Coronary heart disease and hypertension are the most common causes of heart failure in the UK.

  • Valve heart disease - approximately 10% of cases:
    • Aortic stenosis can cause left ventricular hypertrophy (LVH) due to chronic excessive afterload.
    • Aortic or mitral regurgitation, atrial septal defect (ASD), ventricular septal defect (VSD) and tricuspid incompetence cause excessive preload.
  • Heart failure secondary to myocardial disease:
    • Coronary heart disease (myocardial infarction (MI) and ischaemia, arrhythmias, eg atrial fibrillation (AF), heart block).
    • Hypertension (increased vascular resistance, often with LVH but preserved ejection fraction).
    • Cardiomyopathies.
    • Drugs, eg betablockers, calcium antagonists, anti-arrhythmics, cytotoxics.
    • Toxins, eg alcohol, cocaine, mercury, cobalt, arsenic.
    • Endocrine, eg diabetes, hypothyroidism, hyperthyroidism, Cushing's syndrome, adrenal insufficiency, excessive growth hormone, phaeochromocytoma.
    • Nutritional, eg deficiencies of thiamine, selenium, carnitine, and obesity, cachexia.
    • Infiltrative, eg sarcoidosis, amyloidosis, haemochromatosis, Löffler's eosinophilia, connective tissue disease.
    • Infective eg Chagas' disease, HIV.
  • High-output failure - this occurs when cardiac output is normal or increased in the face of much increased needs. It can occur with a normal heart, but even earlier if there is heart disease. Causes include:
    • Anaemia.
    • Pregnancy.
    • Hyperthyroidism.
    • Paget's disease of bone.
    • Arteriovenous malformations.
    • Beriberi.

In general, the heart fails as a whole, but sometimes a disproportionate burden falls on one ventricle, and this influences the pattern of symptoms and signs. There is no symptom or sign that is both sensitive and specific for chronic heart failure.[5]

Symptoms

Patients do not necessarily have all, and some may be predominant at times. In addition, patients may be depressed or complain of drug-related side-effects.

  • Dyspnoea and fatigue (may limit exercise tolerance).
  • Fluid retention (may cause pulmonary or peripheral oedema).
  • Orthopnoea.
  • Paroxysmal nocturnal dyspnoea (PND).
  • Nocturnal cough (± pink frothy sputum) or wheeze.
  • Nocturia, cold peripheries, weight loss and muscle wasting.
  • Right ventricular failure (RVF): peripheral oedema (up to thighs, sacrum, abdominal wall), abdominal distension (ascites), nausea, anorexia, facial engorgement, pulsation in the neck and face (tricuspid regurgitation), epistaxis.

Signs

The patient may look ill and exhausted, with tachypnoea, cool peripheries, peripheral ± central cyanosis.[6]

  • There may be a tachycardia at rest, low systolic blood pressure (BP), a displaced apex (LV dilatation) or RV heave (pulmonary hypertension), a narrow pulse pressure or pulsus alternans (alternating large and small pulse pressures) and a raised JVP.
  • There may be a gallop rhythm due to presence of S3 (see heart sounds) or murmurs of mitral or aortic valve disease.
  • Bilateral basal end-inspiratory crackles ± wheeze ('cardiac asthma').
  • Pleural effusions.
  • Tender hepatomegaly - pulsatile in tricuspid regurgitation, with ascites.
  • Often extensive peripheral oedema.

The peak expiratory flow rate may be reduced but, if it is <150 litres/minute, suspect chronic obstructive pulmonary disease (COPD) or asthma.

The National Institute for Health and Clinical Excellence (NICE) makes the pathway for diagnosis explicit after detailed history and examination:[7]

If there has been a previous MI

The patient should be referred for specialist assessment and Doppler echocardiography within 2 weeks. Echocardiography is the key test to provide a semi-objective assessment of cardiac function. It enables an assessment of:

  • Overall LV systolic function.
  • Diastolic function (necessary to diagnose heart failure with preserved ejection fraction - HFPEF).
  • LV wall thickness.
  • Valvular disease.
  • Estimation of pulmonary artery systolic pressure.

If an abnormality is found consistent with heart failure, the severity, aetiology, precipitating factors, type of cardiac dysfunction and treatable causes are assessed. If there is no obvious abnormality, consider measuring serum natriuretic peptides (if not already done). If the levels are raised, there may be heart failure with a preserved ejection fraction or another diagnosis. If the levels are normal, the diagnosis is unlikely to be heart failure.

No previous MI

B-type natriuretic peptide (BNP) and N-terminal pro-BNP (NT-proBNP) are released into the blood when the myocardium is stressed. Measure serum natriuretic peptides:

  • If levels are high (BNP ≥400 pg/ml), the patient should be referred for specialist assessment and Doppler echocardiography within two weeks - as before.
  • If levels are raised (BNP ≥100-400 pg/ml), the referral and assessment may be made within six weeks.
  • If the levels are normal (BNP ≤100 pg/ml), heart failure is unlikely and other diagnoses should be considered.

Very high levels of serum natriuretic peptides (≥400 pg/ml) carry a poor prognosis. Natriuretic peptide levels may also be elevated in other conditions such as chronic hypoxaemia, renal dysfunction, advanced age, liver cirrhosis and sepsis.

The ESC guidelines place almost equal emphasis on the role of the 12-lead ECG.[1] This not only identifies potential aetiological factors, but is also necessary for treatment decisions, eg rate control and anticoagulation for AF or pacing for bradycardia. A normal ECG makes LVSD unlikely (negative predictive value of 98%).

Assessing the aetiology may involve:

  • Blood tests: FBC, U&E and creatinine, LFTs, glucose, fasting lipids, TFTs; consider cardiac enzymes if an undiagnosed MI is possible in the preceding few days.
  • CXR - provides supportive evidence for heart failure and helps to exclude other potential causes of breathlessness. Typical findings in heart failure include:
    • Cardiomegaly (cardiothoracic ratio >50%).
    • Ventricular hypertrophy.
    • Prominent upper lobe veins (upper lobe diversion).
    • Peribronchial cuffing.
    • Diffuse interstitial or alveolar shadowing - classical perihilar 'bat's wings' or nodular (especially with pre-existing COPD).
    • Fluid in the fissures.
    • Pleural effusions.
    • Kerley B lines.
    Apart from pulmonary congestion, CXR findings are only predictive of heart failure where there are co-existing typical signs and symptoms.
  • Urinalysis.
  • Lung function tests (peak flow or spirometry).
  • Cardiac magnetic resonance imaging - the gold standard for assessing ventricular volumes, mass and wall motion. It can be used with contrast to identify inflammation, infiltration and scarring of the myocardium. Its use is limited by availability and cost.[1]
  • Exercise testing, CT angiography or coronary angiography are not part of routine diagnosis of heart failure but may be considered where IHD is suspected.
  • Radionuclide imaging may be helpful to assess global ventricular function when echocardiography is not possible.
  • Endomyocardial biopsy is rarely needed.

The New York Heart Association's (NYHA) Classification of Heart Failure has provided a clinically useful, functional classification, outlined below:

NYHA Heart Failure Severity Classification
  • Class I: no symptoms on ordinary physical activity.
  • Class II: slight limitation of physical activity by symptoms.
  • Class III: less than ordinary activity leads to symptoms.
  • Class IV: inability to carry out any activity without symptoms.
  • Prognosis is poor on the whole, with approximately 50% of people with heart failure dying within four years of diagnosis.[6]
  • The mortality rate in the UK appears to be improving. A UK study found that the six-month mortality rate for people with heart failure had improved from 26% in 1995 to 14% in 2005.[8]
  • The prognosis for people with heart failure and preserved left ventricular ejection fraction is a little better than the prognosis for people with heart failure and reduced ejection fraction.

Further reading & references

  1. Acute and Chronic Heart Failure, European Society of Cardiology (2012)
  2. Sanderson JE; Heart failure with a normal ejection fraction. Heart. 2007 Feb;93(2):155-8. Epub 2005 Dec 30.
  3. Arroll B, Doughty R, Andersen V; Investigation and management of congestive heart failure. BMJ. 2010 Jul 14;341:c3657. doi: 10.1136/bmj.c3657.
  4. Majeed A, Williams J, de Lusignan S, et al; Management of heart failure in primary care after implementation of the National Service Framework for Coronary Heart Disease: a cross-sectional study. Public Health. 2005 Feb;119(2):105-11.
  5. Management of chronic heart failure, Scottish Intercollegiate Guidelines Network - SIGN (2007)
  6. Heart failure - chronic; NICE CKS, November 2010
  7. Chronic heart failure; NICE Clinical Guideline (August 2010)
  8. Mehta PA, Dubrey SW, McIntyre HF, et al; Improving survival in the 6 months after diagnosis of heart failure in the past Heart. 2009 Nov;95(22):1851-6. Epub 2009 Jul 8.

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.

Original Author:
Dr Sean Kavanagh
Current Version:
Peer Reviewer:
Dr Hannah Gronow
Last Checked:
19/07/2012
Document ID:
2241 (v24)
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