Sudden Death May be Genetic

Sudden cardiac death found in certain genetic mutations

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) It is shocking and sad when people die because their heart suddenly stops working. It can be hard to tell who is at risk for such a death, but there may be clues in people's genes.

Researchers found that certain changes in people's genes may be a sign of their risk for sudden cardiac death - or death that happens when the heart suddenly stops working. This finding applies to patients with a heart rhythm problem called Long QT.

"Certain genetic changes can put people at risk for an early heart-related death."

Coeli Lopes, Ph.D., from the University of Rochester Medical Center and lead author of the study, says that this is the first time that anyone has found a link between genetic changes and risk of sudden cardiac death.

At the moment, risk of sudden cardiac death in Long QT patients is based on clinical measurements like the amount of time it takes the heart's electrical system to recharge between heartbeats, and whether a patient had passed out in the past.

According to Arthur J. Moss, M.D., a professor at the University of Rochester Medical Center, the study's findings may make it easier to spot who is most at risk for sudden cardiac death, allowing doctors to take action and help patient's avoid an early death.

While Long QT is a serious problem, it is not the most common cause of sudden cardiac death. The two leading risks of sudden cardiac death are coronary artery disease and a history of heart attacks. In other words, bad arteries are the most common culprits in sudden cardiac death.

The Study

  • Researchers looked at the most common genetic mutations in patients with Long QT syndrome type 1 - a condition that happens when the heart's electrical system takes a long time to recharge between heartbeats
  • They studied how these mutations affected ion channels, or the small holes on the surface of heart muscle cells
  • Ion channels open and close to let electrical charged particles flow in and out of a cell, which makes the signal that the heart needs to relax after pumping blood through the body
  • Researchers found that certain genetic mutations made these ion channels open and close more slowly
  • Patients with these mutations and slow-to-open ion channels were about twice as likely as other patients to die before they reached 30 years of age, or to have serious heart problems
Reviewed by: 
Review Date: 
May 11, 2011
Last Updated:
May 13, 2011