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Almanac 2011: cardiomyopathies. The national society journals present selected research that has driven recent advances in clinical cardiology
  1. Perry M Elliott1,
  2. Saidi A Mohiddin2
  1. 1The Heart Hospital, 16-18 Westmoreland Street, London; UK
  2. 2Department of Cardiology, The London Chest Hospital, London, UK
  1. Correspondence to Dr Saidi A Mohiddin, Department of Cardiology, The London Chest Hospital, 6 Sigdon Road, London E8 1AP, UK; smohiddin{at}

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Cardiomyopathies are myocardial disorders in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease, sufficient to cause the observed myocardial abnormality. They are classified into a number of morphological and functional phenotypes that can be caused by genetic and non-genetic mechanisms. A few key themes have been dominant in 2010–11, foremost of which are the use (and interpretation) of increasingly sophisticated genetic analyses and the use of new non-invasive imaging techniques to study clinical phenotypes. There were few advances in treatment reported and it remains clear that there is a need for properly conducted randomised trials in all forms of cardiomyopathy.

Hypertrophic cardiomyopathy (HCM)

HCM is defined by the presence of myocardial hypertrophy unexplained by loading conditions. It is a genetic disorder predominantly caused by mutations in sarcomere protein genes, but other genetic diseases, including metabolic disorders such as Anderson–Fabry disease, account for a substantial minority of cases.1

The literature over the past year illustrates the continued importance of conventional diagnostic tools such as ECG and echocardiography in the diagnosis of HCM, but various refinements using different technical approaches, such as deformation imaging and 3D echo, were reported. Perhaps the most important advance has been the use of cardiac MRI. Two aspects were prominent: the ability of cardiomagnetic resonance (CMR) to detect myocardial segments ‘invisible’ to echocardiography (eg, posterior septum and apex) and probably more importantly, the ability to image myocardial scar using gadolinium enhancement. Numerous papers have examined the pattern and distribution of scar and its relation to clinical presentation and prognosis.2–4 Most data suggest that the presence of scar is predictive of heart failure rather than sudden cardiac death, but larger unbiased cohort studies are required. Methods to detect diffuse fibrosis are likely to be …

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  • Competing interests None.

  • Provenance and peer review Commissioned; internally peer reviewed.