Heart failure gene discovered

Reported by Susan Aldridge, PhD, medical journalist

Genetic mapping studies have uncovered a gene involved in a form of heart failure.
Dilated cardiomyopathy (DCM) is a common cause of sudden cardiac death, often with no preceding symptoms. A team at the Mayo Clinic has been looking at families affected by DCM. First they discovered a defect in a gene on chromosome 3 called SCN5A.

Then, by scanning 156 unrelated patients with DCM they found four additional mutations in the same gene. SCN5A influences the electrical activity of the heart - which is defective in DCM. This is a new finding in the genetics of DCM - previous work has uncovered mutations involved in the heart's structure and contraction. Now it looks as if the mechanism of the heart failure in DCM may also involve electrical signalling problems. Previously, DCM has been seen as being more of a structural disorder of the heart.

Source
Journal of the American Medical Association 26th January 2005