Genetics of hypertrophic cardiomyopathy (HCM)

Published on October 31, 2024   26 min

A selection of talks on Cardiovascular & Metabolic

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0:00
Hello. My name is Petros Syrris. I'm a Principal Research Fellow in the Institute of Cardiovascular Science at the UCL. I run the genetics laboratory in the center for heart muscle disease. Our research focuses on human cardiomyopathies and arrhythmia syndromes. In this presentation, I will talk about "The Genetic Causes of Hypertrophic Cardiomyopathy."
0:25
Let's start with the definition of cardiomyopathy in general as it is given in the classification of human cardiomyopathies by the European Society of Cardiology. It states that cardiomyopathy is a disorder 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. In other words, the structure and function of the heart are abnormal in the absence of other cardiovascular disease that could explain this abnormality. Human cardiomyopathies are classified according to morphological and functional criteria into five types. Major form of disease is hypertrophic cardiomyopathy. This talk will concentrate on the genetic forms of this disorder.
1:21
Before we discuss HCM, it's worth looking at the microscopic anatomy of cardiomyocytes. As shown on this slide, cardiac muscle fibers are comprised of cardiomyocytes connected in series. Myocytes have an elongated shape and adjacent myocytes are joined by intercalated discs. Myocytes contain bundles of mylofibers which are formed of distinct repeating units called sarcomeres. Sarcomere is a prominent component of myocytes, and is the contractile unit of the cells. In the next slides, we will examine the sarcomeres in more detail, because they are significantly linked with pathogenesis of hypertrophic cardiomyopathy.

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Genetics of hypertrophic cardiomyopathy (HCM)

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