SCN5A—A Mechanistic Link Between Inherited Cardiomyopathies and a Predisposition to Arrhythmias?
- Eric Adler, MD;
- Valentin Fuster, MD, PhD
- 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.
- Corresponding Author: Valentin Fuster, MD, PhD, Mount Sinai Medical Center, Box 1030, One Gustave L. Levy Place, New York, NY 10029-6574 (fuster{at}msnyuhealth.org).
Since this article does not have an abstract, we have provided the first 150 words of the full text.
- KEYWORDS:
- ARRHYTHMIA
- ATRIAL FIBRILLATION
- CARDIOMYOPATHY, DILATED
- GENETIC PREDISPOSITION TO DISEASE
- MUTATION
- SODIUM CHANNELS
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.5-7
Recent work has identified a group of inheritable cardiomyopathies characterized by disorders of contraction and electrical conduction. Dysfunction in the ryanodine receptor has been implicated in arrhythmogenic right ventricular cardiomyopathy type 2, …
