Hypertrophic cardiomyopathy (HCM) is a disorder of the heart due to dysfunction of the sarcomeres in cardiac muscle cells (myocytes). Sarcomeres are cellular structures that are critical in myocyte contraction. The sarcomere dysfunction in HCM can lead to hypertrophy (thickening) of the heart.

HCM can be due to a number of heritable genetic defects affecting sarcomere proteins. Hypertrophy related to sarcomere dysfunction distinguishes HCM from other forms of cardiac hypertrophy, such as hypertrophy caused by chronic high blood pressure, infiltrative disorders such as cardiac amyloidosis (a different disorder caused by deposition of proteins in heart muscle cells), or healthy, adaptive hypertrophy from athletic training. As such, doctors often need to perform tests to distinguish HCM and other forms of hypertrophy. In some cases, it can be difficult to distinguish HCM from other types of hypertrophy.

Interventions of Interest:

  • Mavacamten (MyoKardia and Bristol-Myers Squibb)

For more information, please contact Laura Cianciolo, Program Manager, at lcianciolo@icer.org.

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