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Cardiomyopathies: diagnostic clues not to be missed

Myocardial Disease

The classification of the cardiomyopathies focuses on clinical phenotyping to establish a diagnosis, with acquisition of a 2 to 3 generation pedigree and, when appropriate/feasible, mutation analysis to identify the specific disease subtype.

Diagnosis relies on a detailed history, electrocardiography and imaging. The diagnostic criteria and molecular genetic basis for HCM, DCM, and ARVC are well established. However, when there are associated phenotypes (e.g. HCM with pre-excitation, DCM with conduction disease) or unusual features (e.g. low voltage ECG, multi-organ involvement), then other diagnoses (e.g. storage disease, lamin A/C disease, amyloidosis, mitochondrial disease) should be considered.
Though not universally readily available, CMR and mutation analysis may contribute to diagnoses in specific instances, though the prognostic significance of both remains to be established. Endomyocardial biopsy is important in the assessment of unexplained cardiac dysfunction to enable a diagnosis and, in particular, to identify treatable conditions which may otherwise be lethal (e.g. giant cell myocarditis, sarcoidosis).


Session Title: Cardiomyopathies: diagnostic clues not to be missed

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.