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Molecular Analysis of Genotype/Phenotype Correlations of Hypertrophic Cardiomyopathy

  • Chapter
Heart Hypertrophy and Failure

Part of the book series: Developments in Cardiovascular Medicine ((DICM,volume 169))

Abstract

Every year more than 20,000 people die in the United States from hypertrophic cardiomyopathy (HCM), the most common cause of sudden cardiac death in the young, particularly young athletes [1]. Unfortunately sudden death, particularly when precipitated by severe exertion, is often the first manifestation of the disease [2]. This dilemma, however, is not solved, even in those individuals known to have HCM, since none of the detectable clinical or pathological features reliably predict sudden death [3,4]. Hypertrophic cardiomyopathy is a disease of the myocardium that is characterized primarily by inappropriate growth (hypertrophy) of the left ventricle, predominantly the interventricular septum [5]. The estimated prevalence of the disease is 1–2 per 10,000 population [6–10]. Clinical diagnostic criteria probably underestimate the prevalence of the disease, as its manifestations are age dependent. A characteristic feature of HCM is its diverse clinical manifestations, which ranges from a benign asymptomatic course to that of angina, syncope, severe heart failure, and sudden cardiac death [5]. The onset of clinical manifestations of the disease is usually in the third or fourth decade of life. However, the disease can manifest very early or very late in life [5]. The diagnosis, suspected from symptoms and signs, is confirmed by echo-cardiographic documentation of ventricular hypertrophy [4].

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Authors
  1. Robert Roberts
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  2. Linda Bachinski
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  3. Qun-Tao Yu
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  4. Miguel Quiñines
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  5. Robert Young
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  6. Ali J. Marian
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Editors and Affiliations

  1. MRC Group in Experimental Cardiology Division of Cardiovascular Sciences St. Boniface General Hospital Research Centre Faculty of Medicine, University of Manitoba, 351 Taché Avenue, Winnipeg, Manitoba, R2H 2A6, Canada

    Naranjan S. Dhalla (Distinguished Professor), Grant N. Pierce (Professor), Vincenzo Panagia (Professor) & Robert E. Beamish (Professor Emeritus) (Distinguished Professor),  (Professor),  (Professor) &  (Professor Emeritus)

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Roberts, R., Bachinski, L., Yu, QT., Quiñines, M., Young, R., Marian, A.J. (1995). Molecular Analysis of Genotype/Phenotype Correlations of Hypertrophic Cardiomyopathy. In: Dhalla, N.S., Pierce, G.N., Panagia, V., Beamish, R.E. (eds) Heart Hypertrophy and Failure. Developments in Cardiovascular Medicine, vol 169. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-1237-6_1

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