Differentials
Heart failure with reduced ejection fraction
SIGNS / SYMPTOMS
No differentiating signs or symptoms.
INVESTIGATIONS
Echocardiogram and other cardiac imaging (e.g., MRI) has a pivotal role in measuring the left ventricular ejection fraction.
Cardiac amyloidosis
SIGNS / SYMPTOMS
No differentiating signs or symptoms. Patient may have an underlying condition (e.g., multiple myeloma).
INVESTIGATIONS
Investigations include screening for monoclonal protein by serum and urine immunofixation electrophoresis and serum free light chains and 24-hour urine collection for total protein.[11] Cardiac MRI and/or cardiac biopsy are usually needed to confirm cardiac amyloidosis.
Hypertrophic cardiomyopathy (HCM)
SIGNS / SYMPTOMS
Family history may be present.
No differentiating symptoms.
Examination may reveal murmur of LVOT obstruction.
INVESTIGATIONS
Echocardiography must be performed to establish the diagnosis of HCM, and will typically show asymmetrical septal hypertrophy. The use of cardiac MRI may increase the diagnostic yield in patients with suspected HCM who have poor visualisation by echocardiogram of the left ventricular walls or left ventricular apex.
Cardiac sarcoidosis
SIGNS / SYMPTOMS
Extracardiac disease may be present (e.g., eye, lung involvement).
Heart block or arrhythmias may be seen on ECG or cardiac monitoring.
INVESTIGATIONS
Cardiac MRI may be useful in identifying areas of involvement.[11]
(18)F-fluorodeoxyglucose (FDG) PET scan demonstrates a characteristic pattern of uptake in sarcoidosis and may aid in the diagnosis of cardiac sarcoidosis.
Endomyocardial biopsy may be required.
Fabry disease
SIGNS / SYMPTOMS
Family history (X-linked inheritance).[11]
May present with burning limb pain, fever, abdominal pain, and diarrhoea. Presence of rash in bathing suit distribution.
Proteinuria may be present.
Cutaneous lesions are seen, such as angiokeratomas.
INVESTIGATIONS
Serum alpha galactosidase levels are absent or low in men (can be normal in women).
Genetic testing (for GLA mutation) can confirm diagnosis.[11]
Biopsy may be considered.
Haemochromatosis
SIGNS / SYMPTOMS
Family history of haemochromatosis and related symptoms.[11]
INVESTIGATIONS
Fasting transferrin saturation (>45%) is the phenotypic hallmark of haemochromatosis. Ferritin is elevated. Cardiac MRI with T2* imaging is used to identify myocardial iron accumulation.
Diagnosis is confirmed by HFE genetic testing.
Myocarditis
SIGNS / SYMPTOMS
History of recent infection (viral, bacterial, fungal).
History of drug and toxin exposures, such as chemotherapy drugs (e.g., checkpoint inhibitors) antibiotics, vaccinations (e.g., smallpox, SARS-CoV-2), cocaine.
INVESTIGATIONS
Endomyocardial biopsy is the diagnostic standard for establishing the diagnosis of myocarditis. Cardiac MRI may also be useful.
Pericardial disease/constrictive pericarditis
SIGNS / SYMPTOMS
History of pericarditis, pericardial effusion, cardiac surgery, radiotherapy.[11] Constrictive pericarditis should be suspected in a patient with unexplained right heart failure in whom there is a history of pericardial disease or predisposing pericardial injury.
INVESTIGATIONS
Echocardiogram and cardiac MRI can be useful.
Cardiac catheterisation may show ventricular discordance in LV/RV pressure tracing during inspiration.[11]
High-output heart failure
SIGNS / SYMPTOMS
History or physical manifestations of precipitating conditions (e.g., anaemia, arteriovenous fistulas/malformations, thyrotoxicosis, sepsis, cirrhosis, thiamine deficiency).
INVESTIGATIONS
Echocardiogram may show 4-chamber enlargement , or increased flow through LVOT.
FBC, thyroid function tests, and blood cultures.
Obstructive lung disease
SIGNS / SYMPTOMS
Dyspnoea and orthopnoea may be present, but usually not paroxysmal nocturnal dyspnoea. Usual precipitants are allergens, environmental triggers, and respiratory infection.
INVESTIGATIONS
Pulmonary function testing will show an obstructive lung disease pattern, with or without improvement after using bronchodilators. This is a helpful test in any patient who is breathless, especially if there is a smoking history.
Doppler echocardiography will reveal normal filling parameters; E/e' ratio will not be elevated in the absence of co-existent left heart disease.
Idiopathic pulmonary arterial hypertension
SIGNS / SYMPTOMS
Can present with heart failure symptoms. Blood pressure is elevated or history of high blood pressure. Right heart symptoms are peripheral oedema, hepatic congestion, and raised jugular venous pressure.
INVESTIGATIONS
Pulmonary pressures may be indirectly measured by Doppler echocardiography. On echocardiography, left ventricular function is normal.
The established standard for diagnosis of pulmonary hypertension is right heart catheterisation.
Doppler echocardiography will reveal normal filling parameters; E/e' ratio will not be elevated in the absence of co-existent left heart disease.
Non-cardiogenic pulmonary oedema
SIGNS / SYMPTOMS
No differentiating signs or symptoms. History of high altitude, neurological event, post-transfusion or pulmonary embolism
INVESTIGATIONS
Echocardiography shows normal left ventricular function. Chest x-ray shows normal heart size.
Doppler echocardiography will reveal normal filling parameters; E/e' ratio will not be elevated in the absence of co-existent left heart disease.
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