Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Research shows young people who died suddenly and inexplicably had genetic heart defects

In 49 young people who died suddenly and inexplicably at an average age of 14, conventional autopsies found no cause of death. But when Mayo Clinic researchers conducted a sophisticated form of postmortem genetic testing -- known as a molecular autopsy -- they found that more than one-third died due to potentially heritable genetic defects that impair the heart's rhythm center.

The defects were caused by mutations, which can be thought of as spelling errors in the genetic code. The defects produced one of two abnormal heart rhythm conditions: Long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). Both syndromes can declare their presence silently and catastrophically with a sudden death episode as the first symptom. Because they leave no structural or physical clues, the defects can't be detected with conventional autopsy methods -- so families have been left with the additional grief of wondering what caused the premature death.

Mayo Clinic's molecular autopsy is a detailed examination at a molecular level of heart function. Molecular autopsies can help lessen grief burden of families because data show that they exposed the lethal mutations as the cause of death in 35 percent of cases in which conventional autopsies could not ascertain cause of death. "The fact that conventional autopsy fails to provide an answer is, in fact, a key clue that the killer may be LQTS or CPVT," says Michael J. Ackerman, M.D., Ph.D., the study's chief author who heads the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory.

"To prevent further tragic, premature deaths, the standard of care for the evaluation of sudden unexplained death must now change. Surviving members in a family in which there's been this tragedy should receive medical attention that is equal to a ‘full-court press,'" Dr. Ackerman says. "It must involve a careful and sleuth-like search for these inherited glitches in the heart's electrical system."

The Mayo Clinic report appears as the featured article and editorial topic in the Jan. 16, 2007, issue of the Journal of the American College of Cardiology.

Significance of the Mayo Clinic Research

These results identify a tragic situation that could, with increased medical surveillance, potentially be prevented in many cases. To do so requires physicians and families to work astutely together to take a careful multigenerational heart history. Dr. Ackerman says that to identify at-risk relatives, all immediate family members of the person who died inexplicably must undergo comprehensive cardiac evaluation that includes, at a minimum, an electrocardiogram and an exercise stress test as initial screens for LQTS and CPVT.

If evidence of heart problems is found, family members need to act immediately by getting screened for the lethal mutations, and treated, if necessary, he says.

"Families who have lost a loved one to sudden unexplained death should now know that they can do more if the coroner or medical examiner is unable to provide an explanation for their loved one's sudden and unexplained death," Dr. Ackerman says. "Postmortem genetic testing could be performed on the victim of sudden death in search of the cause. Now, one-third of the time, we can find the cause."

Warning Signs

To prevent these kinds of sudden unexplained deaths, family members and physicians must be alert to -- and act on -- warning signs of a heart condition. Although all deaths in the study were officially categorized as unexplained, the medical histories showed that nearly half of those with the lethal mutations had experienced a warning sign prior to death.

Warning signs of possible mutation-linked heart abnormality include:

- sudden fainting or a sudden seizure.

- evidence of unexplained death in the family history, such as a motor vehicle accident for which no plausible cause can be found.

- a distant relative with an unexplained death.

With proper recognition of key warning signs, some sudden unexplained deaths may be preventable, Dr. Ackerman says.

Traci Klein | EurekAlert!
Further information:

More articles from Health and Medicine:

nachricht Advanced analysis of brain structure shape may track progression to Alzheimer's disease
26.10.2016 | Massachusetts General Hospital

nachricht Indian roadside refuse fires produce toxic rainbow
26.10.2016 | Duke University

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Etching Microstructures with Lasers

Ultrafast lasers have introduced new possibilities in engraving ultrafine structures, and scientists are now also investigating how to use them to etch microstructures into thin glass. There are possible applications in analytics (lab on a chip) and especially in electronics and the consumer sector, where great interest has been shown.

This new method was born of a surprising phenomenon: irradiating glass in a particular way with an ultrafast laser has the effect of making the glass up to a...

Im Focus: Light-driven atomic rotations excite magnetic waves

Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion

Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Greater Range and Longer Lifetime

26.10.2016 | Power and Electrical Engineering

VDI presents International Bionic Award of the Schauenburg Foundation

26.10.2016 | Awards Funding

3-D-printed magnets

26.10.2016 | Power and Electrical Engineering

More VideoLinks >>>