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'End-stage' hypertrophic cardiomyopathy: from mystery to model

Nature Clinical Practice Cardiovascular Medicine volume 4, pages 232–233 (2007)Cite this article

Despite the recent rapid accumulation of knowledge on various aspects of hypertrophic cardiomyopathy (HCM), this disease continues to be under-diagnosed in the community.1 The overall management of HCM is perceived to be less than optimum and this is thought to be caused, at least in part, by the heterogeneous nature of the disease at the clinical, structural, functional, and molecular levels2 and by the apparent lack of correlation between genotype and phenotype. One of the most serious manifestations of HCM, apart from sudden death, is progressive systolic heart failure (HF) often coupled with ventricular dilatation, which for the lack of a better name, is referred to as end-stage HCM.3 Many aspects of this stage of the disease remain poorly understood and constitute a 'mystery'. Recent studies using modern investigative techniques have, however, yielded meaningful information that could be helpful in understanding and managing HCM. Importantly, this information could also act as a 'model' for clarifying the role of genetics, and molecular, biochemical, biophysical, cellular, and physiological processes in the evolution of different manifestations of HCM, dilated cardiomyopathy, and HF. In this Viewpoint, we discuss some of this newly acquired knowledge and outline areas for future research.

The reported prevalence of end-stage HCM varies from 2.4% to 15% in different series.3 This spread is contributed to by the retrospective nature of the studies and the heterogeneity of patients with respect to age, definition of 'end-stage', disease state, and length of follow-up. In contrast to such variable prevalence, the incidence in most studies is relatively uniform, ranging from 1% to 2% of patients with HCM per year.3,4 Young age of HCM onset and associated coronary heart disease have been reported as risk factors for developing end-stage disease. A prevalent feature of end-stage HCM is progressive systolic dysfunction, in addition to pre-existing diastolic dysfunction, which is accompanied by left ventricular (LV) cavity dilatation (remodeling), ventricular wall thinning, or both in approximately 50% of cases. Some of the most advanced cases, however, continue to have thick ventricles and normal cavity dimensions, accompanied by severe diastolic dysfunction and relatively preserved systolic function, at the time of cardiac transplant or death.

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Authors and Affiliations

  1. MH Yacoub is Professor of Cardiothoracic Surgery at Imperial College, London, UK, and at the University of Florence, Italy.,

    Magdi H Yacoub

  2. in the Cardiology Department of Careggi University Hospital, I Olivotto is a Staff Physician, and F Cecchi is Head of the Referral Center for Cardiomyopathies, Florence, Italy.,

    Iacopo Olivotto & Franco Cecchi

Authors
  1. Magdi H Yacoub
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  2. Iacopo Olivotto
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  3. Franco Cecchi
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Correspondence to Magdi H Yacoub.

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The authors declare no competing financial interests.

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Yacoub, M., Olivotto, I. & Cecchi, F. 'End-stage' hypertrophic cardiomyopathy: from mystery to model. Nat Rev Cardiol 4, 232–233 (2007). https://doi.org/10.1038/ncpcardio0859

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