The Mayo Clinic team found a defect in a gene on chromosome 3 called SCN5A. By scanning 156 unrelated patients with dilated cardiomyopathy (DCM), the researchers found four additional mutations in the same gene. SCN5A is the gene that encodes the sodium ion channel in the heart, which helps regulate transport of positively charged sodium ions, and therefore the heart's electrical patterns.

Among the individuals with a SCN5A mutation, 27 percent had early features of DCM, 38 percent had full-blown DCM and 43 percent had a trial fibrillation, a rhythm abnormality in the upper chambers of the heart.

"Ironically, the fact that this gene encoding the sodium channel has been strongly implicated in heart rhythm disturbances may have hindered identification of its role in heart failure,” says Timothy Olson, a Mayo Clinic pediatric cardiologist. "In previous studies of patients and families searching for mutations in this gene, those with structural heart disease such as DCM were normally excluded from consideration in order to better focus on the rhythm disorders. With this new study, we see that heart failure is another important manifestation of this genetic defect.”

Until now, the mutations shown to cause DCM have mainly been related to the proteins involved in the heart's structure and contraction. The new study is important because it establishes another mechanism for heart failure involving the regulation of sodium ion flow, not structural protein defects.

"Since these variations hinder sodium transport, it may be wise to avoid using sodium channel-blocking drugs in heart failure patients with SCN5A mutations, because those drugs may make the problem worse”, says Dr. Olson.

MEDICA.de; Source: Mayo Clinic