Therapeutic Approaches to Hypertrophic Cardiomyopathy

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Therapeutic Approaches to Hypertrophic Cardiomyopathy

Therapeutic Approaches to Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy is a widely studied and common genetic heart disease which has many therapeutic treatments. This is a genetic disease that is caused by mutations of the sarcomeres in the cells that make up the tissue of the heart (B. Maron et al., 2003, p. 1690). It usually affects the left ventricle of the heart which is responsible for sending, or pumping, blood to the entire body (Nishimura, Ommen, & Tajik, 2003, p. 1). This disease affects one in 500 people (Nishimura, Ommen, & Tajik, 2003). There has been a lot of study on this disease which has led to well established testing and screening methods as well as various treatment options.

The pathophysiology of Hypertrophic Cardiomyopathy is very complex (Gersh et al., 2011, p. 1316). It is an inherited disease and is caused by the mutation of one of 10 genes (B. Maron et al., 2003, p. 1690). The most definitive test for the disease is a DNA analysis to identify mutations in these genes (B. Maron et al., 2003, p. 1692). Although this disease is inherited, it can appear in a person anytime during their life time, from an infant, middle age, or adult in their old age (B. Maron et al., 2003, p. 1692). According to Cirino (2014), “Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostatic, presyncope, and syncope” (p. 1).

Hypertrophy, or enlarged heart, is caused when the left side of the heart has to work harder to pump blood to your body due to an obstruction (Kenny, Willacy, & Kenny, 2011, p. 2). Over time, the heart becomes thicker and stiffer allowing less blood filling the left ventricle causin...

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Maron, B., & McKenna, W. (2003). ACC/ESC Expert Consensus Document on Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology, 42(9), 1687-1713.

Maron, M., Kalsmith, B., Udelson, J., Li, W., & Denofrio, D. (2010, August 24). Survival Following Cardiac Transplantation in Patients with Hypertrophic Cardiomyopathy. Survival Following Cardiac Transplantation in Patients with Hypertrophic Cardiomyopathy. Retrieved March 30, 2014, from http://circheartfailure.ahajournals.org/content/early/2010/08/24/CIRCHEARTFAILURE.109.922872

Nishimura, R., Ommen, S., & Tajik, A. (n.d.). Hypertrophic Cardiomyopathy. Hypertrophic Cardiomyopathy. Retrieved March 30, 2014, from https://circ.ahajournals.org/content/108/19/e133.full

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