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Hypertrophic Cardiomyopathy: The Past, the Present, and the Future

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Abstract

Hypertrophic cardiomyopathy (HCM) occurs once in about 500 births; is the most common familial heart disease; is seen in all races and both sexes, on all continents; and has been estimated by Maron et al. to occur in at least 600,000 Americans (Maron BJ, Ommen SR, Semsarian C, Spirito P, Olivotto I, Maron MS, J Am Coll Cardiol 64:83-99, 2014). HCM may present at any age, but it is now recognized as the most common cause of sudden cardiac death in adolescents as well as in athletes. However, in the majority of patients, it is of little clinical import and is compatible with normal survival.

This chapter traces the evolution of our understanding of this condition from its initial description in the mid-nineteenth century and its emergence as a specific entity as a consequence of clinical-pathologic correlations in the first half of the twentieth century. With the development of left heart catheterization in the 1960s, many more patients with HCM were identified, and its unique pathophysiology was described. At present, echocardiography is employed almost universally in diagnosis, while therapy involves the use of several drugs, interventions to relieve obstruction as well as the implantation of cardioverter/defibrillators to prevent sudden cardiac death. Beginning in the 1990s, advances in molecular genetics have greatly enhanced understanding of the fundamental mechanisms of HCM but have also raised some important questions. Future efforts will involve the delineation of genotype-phenotype relations and more rigorous evaluation of currently available therapies.

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Notes

  1. 1.

    In this report, we referred to the condition as “functional aortic stenosis” and subsequently as “idiopathic hypertrophic subaortic stenosis” (IHSS). The preferred term now is hypertrophic cardiomyopathy (HCM), which is used throughout this chapter.

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Braunwald, E. (2019). Hypertrophic Cardiomyopathy: The Past, the Present, and the Future. In: Naidu, S. (eds) Hypertrophic Cardiomyopathy. Springer, Cham. https://doi.org/10.1007/978-3-319-92423-6_1

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