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Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous genetic heart disease characterized by left ventricular hypertrophy in the absence of another disease that could explain the wall thickening. Elucidation of the genetic basis of HCM lead to the identification of several genes encoding sarcomeric proteins, such as MYH7, MYBPC3, TPM1, TNNT2, and TNNI3. Sarcomeric genes are mutated in approximately 40% of HCM patients and a possible explanation for the incomplete yield of mutation-positive HCM may be somatic mutations.

circulation journal

Somatic &lt;i&gt;MYH7&lt;/i&gt;, &lt;i&gt;MYBPC3&lt;/i&gt;, &lt;i&gt;TPM1&lt;/i&gt;, &lt;i&gt;TNNT2&lt;/i&gt; and &lt;i&gt;TNNI3&lt;/i&gt; Mutations in Sporadic Hypertrophic Cardiomyopathy