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January 26, 2005

SCN5A—A Mechanistic Link Between Inherited Cardiomyopathies and a Predisposition to Arrhythmias?

Author Affiliations

Author Affiliations: The Zena and Michael A. Wiener Cardiovascular Institute and The Marie-Josée and Henry R. Kravis Center for Cardiovascular Health, Mount Sinai Medical Center, New York, NY.

JAMA. 2005;293(4):491-493. doi:10.1001/jama.293.4.491

The supreme goal of all theory is to make the irreducible basic elements as simple and as few as possible without having to surrender the adequate representation of a single datum of experience.—Albert Einstein, 19331

A wide variety of genetic disorders have been recognized in patients with idiopathic dilated cardiomyopathy (IDC). Mutations in contractile proteins, such as troponin and titin, have been demonstrated.2,3 Mitochondrial transfer RNA (tRNA) abnormalities have been found in patients with hearing disorders and maternally inherited cardiomyopathy.4 Furthermore, specific abnormalities in immune function may result in IDC. Cohorts of patients with IDC have been noted to have anticardiac antibodies, altered immunoglobulin absorption, and abnormal cytokine profiles.57

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