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Genetic testing of people who’ve suffered sudden unexplained death is an effective and cost-efficient way of identifying genetic mutations that may put surviving relatives at increased risk for potentially deadly heart rhythm disturbances, a new study suggests.

Genetic defects that can cause sudden cardiac death occur in 25 percent to 30 percent of victims of sudden unexplained death. The current recommended approach is for first-degree relatives of sudden unexplained death victims to undergo comprehensive cardiac testing.

In this study, U.S. researchers compared the results and costs of postmortem genetic/molecular autopsy testing in 146 sudden unexplained death cases and found that 40 of the victims (26.7 percent) had either a catecholaminergic polymorphic ventricular tachycardia mutation (18 people) or a long QT syndrome mutation (22 people). Both are known to cause sudden death.

The researchers then estimated the costs of testing the 584 relatives of the sudden unexplained death victims. The total cost of postmortem genetic testing, genetic confirmation testing of the 160 relatives of victims who tested positive for mutations, and cardiac tests for both relatives of mutation-positive and mutation-negative sudden unexplained death victims was $6.78 million.

In comparison, comprehensive cardiac testing for all 584 relatives of the sudden unexplained death victims, followed by directed genetic testing, would have been more than $7.7 million.

“With less than 150 sudden unexplained death cases, use of a cardiac channel molecular autopsy would be estimated to save almost $1 million indicating a much less expensive way of evaluating those left behind,” study co-author David Tester, a senior research technologist at Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minn., said in a news release.

“If you identify a mutation in a sudden unexplained death victim, you can do a simple genetic test in first-degree relatives to assess their risk and perform a disorder-directed clinical evaluation rather than a full clinical evaluation. If a relative is negative for the causative mutation, they may not need to undergo further clinical evaluation at all, and that saves money,” Tester explained.

The study was to be presented Sunday at the American Heart Association’s annual meeting in Orlando, Fla.

A hammer toe occurs when a toe bends over in a hammer-like or claw-like shape. Most common in the second toe, the condition can affect any toe.

A person can be born with a hammer toe, or it can develop over time, particularly from wearing shoes that are too small.

Early treatment may prevent the need for surgery. The U.S. National Library of Medicine offers this list of other potential treatment options:
Splinting the toe, which seems to work best for mild cases or among children.
Using foot manipulation, also an effective remedy for children.
Wearing properly fitted shoes that don’t squeeze the toes.
Wearing a protective pad or using a corrective foot device.
Exercising the toes. Speak to your doctor about what may work for you.

Tranexamic acid (Lysteda) has been approved by the U.S. Food and Drug Administration as the first non-hormonal drug to treat heavy menstrual bleeding, a medical condition called menorrhagia. It works to stabilize a protein that helps blood clot.

Some 3 million women in the United States report the condition each year, usually with no apparent cause, the FDA said in a news release.

Tranexamic acid has been used since the mid-1980s to reduce or prevent bleeding after tooth extraction in people with hemophilia, a genetic disorder caused by lack of a blood clotting factor.

Common side effects among people using Lysteda include headache, sinus and nasal symptoms, back or abdominal pain, muscle or joint pain, anemia and fatigue.

People who use Lysteda while also taking hormonal contraceptives may run the risk of increased blood clots, stroke or heart attack. So women who take a hormonal contraceptive should only use Lysteda if there is a strong medical need, the FDA stressed.

Lysteda is made by Kentucky-based Xanodyne Pharmaceuticals.

Heart attack patients arriving at the hospital typically receive the radiation equivalent of 725 chest X-rays from medical tests during that single hospital stay, new research shows.

The average exposure was 14.5 millisieverts (mSv), about one-third the annual maximum of 50 mSv allowed radiation workers and more than five times the amount of background radiation Americans get from just going about their business in any given year.

Although the amount may sound alarming, it’s not at all clear at this point whether these dosages actually increase health risk, particularly the likelihood of developing cancer, said the Duke University researchers, who plan to present their findings Monday at the American Heart Association’s annual meeting, in Orlando, Fla.

“We have to weigh the potential risk of radiation against the risk of not doing anything, and the risk would be very substantial, especially in these patients who were gravely ill,” said Dr. Thomas Gerber, a spokesman for the heart association and a professor of medicine and radiation at the Mayo Clinic, in Jacksonville, Fla. “It’s important to realize that nobody has ever been able to show scientifically that radiation at the levels used in medical imaging increase the risk of cancer. These are all theoretical concerns that are mathematically extrapolated from what happened in survivors of Hiroshima and Nagasaki who got so much more radiation.”

“The actual biological effects of radiation are an ongoing question,” added study author Dr. Prashant Kaul, a fellow in cardiovascular medicine at Duke. “The risks of causing cancer at the radiation dose levels we’re talking about is actually uncertain.”

The findings arrive in the context of several other recent studies that have shown that patients of all kinds are being exposed to large amounts of radiation from medical imaging procedures.

According to background information in this study, radiation exposure from medical imaging procedures exploded more than 700 percent between 1980 and 2006. One-third of these were cardiovascular procedures.

“Up to this point, we’ve been thinking about radiation as it relates to an individual imaging test. We think it’s appropriate to think of radiation dose per episode of care,” Kaul said.

More than 64,000 patients treated for heart attacks at one of about 50 university hospitals over a three-and-a-half year period underwent almost 277,000 procedures involving ionizing radiation. This represented an average of just over four imaging studies per person, with average cumulative radiation dose of 14.5 mSv.

Cardiac catheterization, one of the most important procedures used by cardiologists, represented at least half of the radiation exposure from all procedures, which was expected, Kaul said. Three-quarters of patients underwent this procedure, which is consistent with the guidelines.

“Also, about 50 percent of patients got CT scans, which is maybe a little higher than expected,” Kaul said. But the researchers don’t know why the patients were getting these chest, head or all-body scans so they can’t determine if they were necessary or not.

A head CT delivers 2 mSv, a body CT delivers 10 mSv and a chest scan delivers 7 mSv, he said. A diagnostic catheterization gives about 7 mSv and putting a stent into an artery adds another 8 mSv, on average.

“In the absence of definitive data, most authorities still recommend a conservative strategy following the ALARA [as low as reasonable achievable] principle,” Kaul stated. “We would like to increase awareness among physicians so when they’re ordering tests involving ionizing radiation, they’re thinking about this. At the end of the day, we want to be sure we’re ordering the right test for the right patient in a given clinical scenario.”

“You see, the potential risk of radiation differs in a patient with no symptoms who comes to the doctor for a regular check-up. For them, a stress test probably would not be meaningful but it’s also different if you’re a 20-year-old woman or an 80-year-old man,” Gerber added.