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How to recognise and manage unusual heart muscle disease

ESC Congress 2010

How to recognise and manage unusual heart muscle disease

With improved imaging techniques and greater understanding of the complex aetiology of heart muscle disease, cardiologists increasingly encounter unusual forms of heart muscle disease, many of which can now be successfully treated.

Myocardial Disease

Focussing particularly on the commonest familial form of amyloidosis, transthyretin (TTR) related amyloid, Professor Rapezzi showed how phenotypic heterogeneity is linked to the type of TTR mutation and geographic clustering. Clues to the diagnosis include sensorineural symptoms, but in an Italian study, 12% of patients had an exclusive cardiac phenotype. Classical echocardiographic features of biventricular thickening, increased myocardial echogenicity and thickening of valve leaflets and intra-atrial septum all suggest the diagnosis, but diagnostic accuracy is substantially improved by indexing of QRS voltage to the left ventricular mass.

Professor Tei described the typical clinical features of Fabry disease, a relatively common cause of hypertrophic cardiomyopathy in older patients. He showed how, exactly like amyloid heart disease, peripheral signs and symptoms often provide the first clue to the diagnosis. Echocardiography and cardiac magnetic resonance (CMR) also provide useful pointers, including the concentric pattern of ventricular hypertrophy, papillary muscle and valve thickening and posterior left ventricular wall scarring and thinning.

Professor Keren provided novel insights into a frequently missed diagnosis, namely sarcoid. Once again, extra-cardiac disease provides useful diagnostic “red flags”, but the presence of conduction disease, patchy and evolving disease in the heart and evidence from nuclear imaging and CMR should always suggest the diagnosis.

Finally, Professor Thiene showed how endomyocardial biopsy remains a useful tool for establishing a tissue diagnosis, but emphasised that its accuracy critically depends on the use of immunohistochemistry, electron microscopy and the expertise of the cardiac pathologist.


In this fascinating session, all four speakers showed how general physical examination, history, family pedigree analysis and a detailed cardiac investigation are used in everyday clinical practice to make the diagnosis of rare and uncommon cardiac disease. In all three of the conditions highlighted in this session, modern treatments have the potential to improve symptoms and prognosis and for this reason alone, cardiologists should remain vigilant when they encounter atypical presentations of myocardial disease.




How to recognise and manage unusual heart muscle disease

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.