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Diagnostic essay

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Diagnostic essay

Diagnostic approach and considered tests

When diagnosing heart failure, one must always look for a cause.

The following investigations should always be performed : 

Comprehensive history and clinical examination
  • Medical history : cardiac (e.g. old myocardial infarction,...?) and non-cardiac (e.g. oncological: previous chemotherapy?,...)
  • Cardiovascular risk factors
  • Family history : enquiries e.g. sudden death, ICD, heart transplant, early coronary artery disease, CVA, muscular diseases,... in the family
  • Medication
  • Substance abuse : alcohol, drugs (cocaine, amphetamines)
  • Travel history
  • Obstetric history (gestational hypertension, diabetes, ...)
Electrocardiogram (ECG)
  • Heart rhythm? Sinusal rhythm or arrhythmia: atrial fibrillation, atrial flutter,... 
  • Conduction disorders? (AV block , bundle branch block, ...)
  • Arguments for ischaemic heart disease? (repolarization disorders)
  • Other : criteria for left ventricular hypertrophy, ....
Comprehensive blood tests
  • Complete (red blood cells, white blood cells + formula, thrombocytes), iron parameters (ferritin, transferrin saturation), renal function, liver function, thyroid function, sober lipid profile, HbA1c 
  • Additional blood and urine tests: on indication
Transthoracic echocardiography
  • Determination of left ventricular ejection fraction (LVEF) and diastolic function
  • Volume of the left atrium : dilated ? 
  • Estimate filling status : arguments for increased pressures in left ventricle, pulmonary hypertension, increased pressure in right atrium (congestion of inferior vena cava),... ?
  • Evaluation of structural heart defects such as valve disease, congenital anomalies
  • Description of the myocardium : normotrophic versus hypertrophic, possible LV dilation, regional contractility disorders, ...
  • Right ventricular (RV) function

Depending on the findings of the basic investigations, the cardiologist will usually schedule additional investigations. Based on the echocardiographic image (HFrEF versus HFpEF, dilated versus hypertrophic cardiomyopathy,...), an additional diagnostic bilan will be done.

 

The following investigations may be useful : 

Coronarography or CT coronary arteries
  • Rule out major coronary stenoses as a cause of myocardial dysfunction. 
  • Always with symptoms suspicious for angina and/or with signs of cardiac ischaemia on ECG. 
  • Always with HFmrEF or HFrEF at increased risk of coronary artery disease. 
  • CT coronarography may be an alternative for younger patients with a low cardiovascular risk profile.
  • Additional intracardiac pressure measurements are sometimes done during cardiac catheterisation. Elevated end-diastolic pressure in the left ventricle may be an argument to further intensify heart failure therapy. 
Right heart catheterisation
  • Via venous access (vena jugularis interna, vena subclavia or vena femoralis), the haemodynamic status is evaluated.
  • Invasive measurement of pressure in : 
    • arteria pulmonalis : pulmonary hypertension (mean pressure > 20 mmHg)?
    • pulmonary capillary wedge pressure (PCWP) : if elevated (> 15 mmHg) indicates further elevated left heart pressure due to heart failure.
    • right ventricle.
    • right atrium: central venous pressure (CVP). Normal (0-5 mmHg).
  • Invasive measurement of cardiac output in litres per minute (thermodilution method) or estimation via mixed venous oxygen saturation (normal > 60%).
  • Indications: 
    • cardiogenic shock.
    • severe heart failure with suspected advanced heart failure and possible need for cardiac replacement therapy (LVAD or transplantation).
    • difficult to estimate haemodynamics with echocardiography. 
    • need for myocardial biopsy. 
MRI scan of the heart
  • An MRI scan of the heart allows good imaging of the structure and function of the heart. 
  • The imaging is less dependent on the patient's constitution (obesity, COPD,...) than with transthoracic echocardiography. 
  • Moreover, an MRI scan allows much better evaluation of the myocardium (detection of areas of scarring, signs of old myocardial infarction, inflammation (myocarditis), accumulation of iron or other proteins (amyloidosis),...).
  • Indications:
    • Insufficient echogenicity with echocardiography. 
    • Suspicion of an infiltrative cardiomyopathy (amyloidosis, Fabry disease), iron accumulation, myocarditis, sarcoidosis, LV non-compaction CMP. 
    • Elaboration of congenital heart disease
    • Aid in determining viability in ischaemic heart disease by determining the amount of myocardial scar tissue after myocardial infarction. Transmural scar tissue indicates the absence of myocardial viability in these segments. 
Holter or event recorder
  • Ambulatory recording of cardiac rhythm for 1 to 7 days. 
  • To detect underlying atrial or ventricular arrhythmias.
Biochemical tests to investigate underlying aetiology (on indication)
  • Blood tests :
    • In case of suspected vitamin deficiency: vitamin B1,...
    • In case of suspected Cushing's disease: cortisol
    • In case of suspected myocarditis or muscle disease: CK and troponin
    • At suspected rheumatological pathology: ANF, ANCA, anti-CCP
    • In case of suspicion: HIV
    • In case of suspicion: alpha-galactosidase
    • In case of suspected amyloidosis: protein electrophoresis, immunofixation and free light chains (to exclude AL amyloidosis).
  • Urine : 
    • In malignant hypertension: 24-hour urine collection: metanephrines, catecholamines
    • In case of suspected amyloidosis: immunofixation and free light chains
Bone scintigraphy
  • Indication: suspicion of cardiac ATTR amyloidosis. 

A Perugini score grade 2 or 3 is strongly suggestive of cardiac ATTR amyloidosis.

PET-scan

Indications: 

  • To estimate viability of the myocardium for possible revascularisation.
  • If active cardiac sarcoidosis is suspected.
Genetic testing
  • If genetic testing finds a known pathogenic mutation (class 4 or 5), this may explain the genetic cause of the heart failure. This then also allows family members to be screened if they are a carrier of this mutation to estimate their risk of developing this cardiomyopathy and to estimate the risk of passing this mutation to their children. With the same mutation, the clinical course and severity of the disease may differ between individuals within the same family. 
  • However, a negative genetic test does not rule out a genetic cause. 
  • Indications: 
    • unexplained hypertrophic cardiomyopathy. 
    • unexplained dilated cardiomyopathy in a young patient or a patient with a family history of heart failure, sudden death, ICD or heart transplantation at a younger age.
    • arrhythmogenic cardiomyopathy (ARVC,...).
    • suspected syndromic disorder or muscle disease (e.g. Duchenne or Becker disease).
    • cardiac ATTR amyloidosis when starting tafamidis (TTR gene).

Prior to genetic testing, the patient is best referred to a cardiogenetics consultation so that correct counselling can be done.

Myocardial biopsy
  • Via venous access (vena jugularis interna, vena subclavia or vena femoralis), a few pieces of myocardial tissue are taken for microscopic examination and further diagnostic staining.
  • Indications: 
    • unexplained hypertrophic cardiomyopathy and suspicion of amyloidosis with as yet unclear diagnosis with non-invasive examinations or to differentiate with certainty between ATTR and AL amyloidosis via specific staining.
    • unexplained cardiomyopathy and suspicion of myocarditis or sarcoidosis with as yet unclear diagnosis with non-invasive examinations.
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