Why the study?
Do somatic mutations in MYH7, MYBPC3, TPM1, TNNT2, and TNNI3 contribute to the etiology of sporadic hypertrophic cardiomyopathy?
Population
104 unrelated patients with non-familial hypertrophic cardiomyopathy (HCM)
Design
Cross-sectional
Key result
Genetic screening of cardiac tissue and peripheral blood from 104 patients with sporadic hypertrophic cardiomyopathy revealed no evidence of somatic mutations in MYH7, MYBPC3, TPM1, TNNT2, or TNNI3.
Authors
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Somatic mutations in these sarcomeric genes unlikely in sporadic HCM; challenges prior hypotheses and leaves open alternative etiologies for study.
Observational (n=104)
Yes
Do somatic mutations in MYH7, MYBPC3, TPM1, TNNT2, and TNNI3 contribute to the etiology of sporadic hypertrophic cardiomyopathy?
Absolute Event Rate: 0% vs 0%
Somatic mutations in major sarcomeric genes do not appear to be a significant etiologic factor in sporadic hypertrophic cardiomyopathy.
Núñez et al. (2013) conducted an observational in Hypertrophic cardiomyopathy (n=104). Genetic screening of cardiac tissue vs. Genetic screening of peripheral blood was evaluated on Presence of somatic mutations in MYH7, MYBPC3, TPM1, TNNT2, and TNNI3. Genetic screening of cardiac tissue and peripheral blood from 104 patients with sporadic hypertrophic cardiomyopathy revealed no evidence of somatic mutations in MYH7, MYBPC3, TPM1, TNNT2, or TNNI3.
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