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 â€˜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."
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.
New antibody analysis accelerates rational vaccine design
09.08.2018 | Scripps Research Institute
Distrust of power influences choice of medical procedures
01.08.2018 | Johannes Gutenberg-Universität Mainz
Scientists develop first tool to use machine learning methods to compute flow around interactively designable 3D objects. Tool will be presented at this year’s prestigious SIGGRAPH conference.
When engineers or designers want to test the aerodynamic properties of the newly designed shape of a car, airplane, or other object, they would normally model...
Researchers from TU Graz and their industry partners have unveiled a world first: the prototype of a robot-controlled, high-speed combined charging system (CCS) for electric vehicles that enables series charging of cars in various parking positions.
Global demand for electric vehicles is forecast to rise sharply: by 2025, the number of new vehicle registrations is expected to reach 25 million per year....
Proteins must be folded correctly to fulfill their molecular functions in cells. Molecular assistants called chaperones help proteins exploit their inbuilt folding potential and reach the correct three-dimensional structure. Researchers at the Max Planck Institute of Biochemistry (MPIB) have demonstrated that actin, the most abundant protein in higher developed cells, does not have the inbuilt potential to fold and instead requires special assistance to fold into its active state. The chaperone TRiC uses a previously undescribed mechanism to perform actin folding. The study was recently published in the journal Cell.
Actin is the most abundant protein in highly developed cells and has diverse functions in processes like cell stabilization, cell division and muscle...
Scientists have discovered that the electrical resistance of a copper-oxide compound depends on the magnetic field in a very unusual way -- a finding that could help direct the search for materials that can perfectly conduct electricity at room temperatur
What happens when really powerful magnets--capable of producing magnetic fields nearly two million times stronger than Earth's--are applied to materials that...
The quality of materials often depends on the manufacturing process. In casting and welding, for example, the rate at which melts solidify and the resulting microstructure of the alloy is important. With metallic foams as well, it depends on exactly how the foaming process takes place. To understand these processes fully requires fast sensing capability. The fastest 3D tomographic images to date have now been achieved at the BESSY II X-ray source operated by the Helmholtz-Zentrum Berlin.
Dr. Francisco Garcia-Moreno and his team have designed a turntable that rotates ultra-stably about its axis at a constant rotational speed. This really depends...
08.08.2018 | Event News
27.07.2018 | Event News
25.07.2018 | Event News
14.08.2018 | Information Technology
14.08.2018 | Life Sciences
14.08.2018 | Life Sciences