Diagnosis | Medibuddy
5th July 2026

Diagnosis

Signs and symptoms

Patients with DCM may present with symptoms of:

  • cardiac failure: shortness of breath on exertion, orthopnoea, fatigue, paroxysmal nocturnal dyspnoea, abdominal discomfort, or leg swelling

Clinical signs that may be elicited on examination include: 

  • bilateral basal crackles on lung auscultation
  • hepatomegaly
  • jugular venous distension
  • peripheral oedema
  • S3 gallop during rapid ventricular phase of diastole, indicating ventricular dilatation

Investigations

All patients with suspected DCM require a comprehensive diagnostic work-up to identify the aetiology and provide morphological and prognostic information. They include a detailed series of serological and genetic testing in addition to imaging modalities as described in Table 2. 

Investigations Description
History and examination
  • To determine aetiology of DCM (acquired and familial)
  • Family history of SCD
  • Three-generation family history and recommend genetic screening of first-degree relatives
Bloods
  • First line: Full blood count, urea and electrolytes, C-reactive protein, creatine kinase, liver function, serum iron, ferritin, bone profile, phosphate, magnesium, thyroid function, troponin, NT-proBNP
  • Second line: serum angiotensin-converting enzyme (ACE), organ-specific serum autoantibodies, viral serology, carnitine profile, thiamine, lactic acid, free fatty acid, plasma amino acid, urine organic acid
Electrocardiogram
  • Atrial fibrillation
  • Ventricular hypertrophy
  • Pathological Q waves
  • Left bundle branch block
  • Ventricular arrhythmias
Holter monitoring
  • Highlight intermittent atrioventricular block, non-sustained ventricular tachycardia or atrial arrhythmia
Echocardiogram
  • Global and regional RV and LV anatomy and function
  • Atrial involvement
  • Valvular involvement, i.e. functional mitral regurgitation
  • Diastolic dysfunction
Cardiac MRI
  • Aetiological definition of cardiomyopathy through tissue characterisation, chamber volume and function.
  • Define presence of myocardial fibrosis and historic myocarditis
  • Guide for prognostication
Invasive coronary angiogram/ Computed tomography coronary angiogram To exclude coronary artery disease
Cardiopulmonary exercise testing (CPET) For prognostic stratification
Endomyocardial biopsy Only considered if results of other clinical investigations suggest myocarditis, infiltrative or storage disease not determined by other means.

Table 2: List of investigations involved in the diagnostic workup of DCM. 

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