Diagnostic Work-Up in Cardiomyopathies: Bridging the Gap Between Clinical Phenotypes and Final Diagnosis. A Position Statement From the ESC Working Group on Myocardial and Pericardial Diseases


This position statement from the European Society of Cardiology (ESC) provides a framework for the clinical approach to diagnostic testing in cardiomyopathies, and includes diagnostic pathways for individuals with ‘red flag’ signs and symptoms. The following are 10 points to remember:

1. A detailed personal history is important for diagnostic purposes, including investigating age of symptom onset, the presence of extracardiac signs and symptoms (e.g., sensory neural symptoms, motor weakness), and exposure to toxins and/or environmental pathogens.

2. A detailed family pedigree helps identify potential familial diseases that may benefit from further genetic or disease-specific testing. A pedigree can assist in determining inheritance patterns in genetic cardiomyopathies and help identify diseases manifesting with variable phenotypes.

3. The patient’s physical exam should extend beyond the cardiovascular system. Ocular manifestations, skin lesions (café au lait spots, angiokeratomas), dysmorphic facies, developmental delay, and neuropathies are examples of clinical signs that can guide the need for disease-specific testing.

4. On electrocardiogram, evidence of atrioventricular block (mitochondrial disease, storage or infiltrative disorders, laminopathies, myocarditis), ventricular pre-excitation (storage disease, mitochondrial disorders), repolarization abnormalities (hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy), low QRS voltage (amyloid), and pseudoinfarct patterns (dystrophin-related diseases, X-linked dilated cardiomyopathy) can be disease suggestive.

5. The ESC working group recommends ordering serum creatinine phosophokinase (CK) in all patients with cardiomyopathy. Consistently elevated CK levels are associated with neuromuscular disease (e.g., Becker’s and Danon’s).

6. Anderson-Fabry disease is an X-linked lysosomal storage disease affecting 1-3% of adults with left ventricular hypertrophy. Signs include angiokeratomata, Raynaud’s like symptoms, neuropathy, tinnitus, and proteinuria.

7. Cardiac magnetic resonance imaging with gadolinium enhancement can reveal patterns suggestive of myocarditis, infiltrative disease, and hypertrophic cardiomyopathy.

8. In myocarditis, one can see akinesis in noncoronary territories, and in fulminant cases, one can see increased wall thickness and mild left ventricular dilation.

9. Genetic testing should be targeted to the likely diagnosis.

10. Endomyocardial biopsy can be useful for diagnosing inflammatory myopathies, iron overload, and amyloidosis. In asymptomatic patients with chronic disease, the incremental value of endomyocardial biopsy has not been established.

Clinical Topics: Heart Failure and Cardiomyopathies, Noninvasive Imaging, Vascular Medicine, Lipid Metabolism, Magnetic Resonance Imaging

Keywords: Fabry Disease, Neuromuscular Diseases, Diagnostic Tests, Routine, Biopsy, Tinnitus, Myocarditis, Proteinuria, Electrocardiography, Genetic Testing, Magnetic Resonance Imaging, Pedigree, Mitochondrial Diseases, Iron Overload, Phenotype, Cardiomyopathies, Cafe-au-Lait Spots, Muscular Dystrophies, Hypertrophy

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