A 48 Year Old Patient With Breathlessness And Ankle Swelling

You are seeing a 48 year old patient in your clinic who has a 3 month history of progressive exertional dyspnoea, fatigue and peripheral edema. He has been generally fit and without prior medical history. He mentions his father died in his forties due to 'large heart'. He is not taking any medications and you start furosemide 40 mg once daily.
Regarding the case answer the following questions:

Q 1. What further questions you should ask in history? 

Answer: Ask about:
• Chest pain: if present, does this sound like ischemic cardiac pain or like pleurisy?
• Cough/sputum: has it been present and has there been haemoptysis?
• Wheeze: note that this is not synonymous with airway disease. It may occur in pulmonary oedema when it is known as ‘cardiac asthma’.
• Recurrent asthma/bronchitis or any other respiratory problem.
• Smoking, which is obviously a substantial risk factor for both chronic airway disease and ischaemic heart disease.
• Alcohol intake, which is a risk factor for cardiomyopathy. Ask: ‘How much alcohol do you drink now? Have you ever been a heavy drinker in the past?’
• Previous BP measurements: untreated hypertension can lead to left ventricular failure.
• Previous cardiac surgery might be suggestive of impaired left ventricular function or constrictive pericarditis

Q 2 . List The Differential Diagnosis for a patient with breathlessness and ankle swelling? 

Answer: Differential Diagnosis


1. Cardiac Causes:

• Left ventricular dysfunction
• Valvular heart disease
• Pericardial effusion/constriction
• Cyanotic congenital heart disease
• High-output cardiac failure secondary to anaemia

2. Pulmonary Causes:

• Chronic airway or parenchymal lung disease (cor pulmonale)
• Chronic, repeated pulmonary embolism (PE)
• Primary pulmonary hypertension

3. Gastrointestinal Causes:

• Liver failure
• Protein-losing enteropathy

4. Renal Causes:

• Nephrotic syndrome
• Chronic renal failure

5. Endocrine:

•  Hypothyroidism

Q 3. What initial investigations would you perform? 

Answer: Basic workup after detailed history and physical examination should include: 

1. ECG:  A routine ECG is very helpful. If it is completely normal, then a diagnosis of chronic heart failure is unlikely. Other abnormalities may help elucidate the etiology of the patient’s symptoms.

• A dominantly negative P wave in lead V1, reflecting left atrial hypertrophy, is an indirect sign of left heart dysfunction 

• Right ventricular hypertrophy (right bundle-branch block with dominant R waves in V1) secondary to any cause of pulmonary hypertension.

• Low voltages and electrical alternans, which occur with a large pericardial effusion.

2. Chest radiograph: 

• a large heart should prompt echocardiography 

• check for signs of pulmonary oedema;

• if heart size is normal, inspect the lung fields closely for evidence of chronic obstructive airway disease or parenchymal lung disease;

• if the heart size and lung fields are both normal, consider PE or pericardial constriction.

3. Blood tests: Check CBC, electrolytes and renal, liver and thyroid function tests.

4. Urinalysis: this simple test helps in identifying proteinuria. 

If there is significant proteinuria on dipstick testing (>2+), then nephrotic syndrome is possible. In this case check serum albumin and urinary albumin/creatinine ratio or 24-hour urinary protein

excretion. Remember that proteinuria of up to 1 g/day (occasionally more) can be caused by severe cardiac failure.

5. Echocardiography: This is most useful for excluding significant valvular or left ventricular

disease. If a pericardial effusion is found, then careful clinical and echocardiographic assessment is

required to judge whether this is contributing to his symptoms.

Assessment of right heart function is largely subjective, but reasonably accurate indirect measurements of pulmonary artery systolic pressure can be obtained. Echocardiography may suggest pericardial constriction or restrictive cardiomyopathy, which requires cardiac catheterisation for

confirmation.

6. Other tests: Other more specialist investigations may be required and will be directed by the clinical features and initial investigations. These include cardiac catheterisation (for coronary artery

anatomy and valvular dysfunction) and spiral CT (for PE).