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Entries in Aneurysms (3)

Thursday
Jun282012

Father's Hidden Heart Condition Diagnosed in Daughters

Courtesy Kristin Wallis(NEW YORK) -- Tyson Wallis and his wife Kristin had decided on chicken tortilla soup for dinner as she got ready for work on the morning of January 12.

"He told me, 'It's 9:17, you're going to be late,'" Kristin, 30, of Houston, told ABC News.  "I told him I loved him as he was feeding our twin girls, and I rushed out the door."

But only a few minutes later, as she was pulling into work, she received a phone call from her mother.  Tyson had collapsed at home.

Kristin arrived home to a grisly scene in her kitchen.  Paramedics had stormed the house in an attempt to revive and stabilize Tyson.

"It was all a blur," she said.  "Thinking back, I don't even know who was holding the babies or what people were saying to me."

Tyson was brought to the emergency room, but doctors said that it was too late and he died soon after he arrived at the hospital.

Tyson, 30, was "perfect and healthy," Kristin said.  Rocked and baffled by his death, his family ordered an autopsy, which revealed Tyson had died of an aortic aneurysm.

Concerned that there could be a genetic component to the condition, Kristin Wallis brought her 10-month-old twins, Eleanor and Olivia, to Dr. Shannon Rivenes, a pediatric cardiologist at Texas Children's Hospital, who "put the pieces together" and found the girls had Loeys-Dietz Syndrome, a rare genetic connective tissue disorder that can cause aortic aneurysms.  Doctors said Tyson had unknowingly lived with the condition his entire life.

A parent with the condition has a 50 percent chance of passing it down to his child.

"For these twins, the family history of the father's sudden death due to rupture of the aorta was the key to diagnosis," said Dr. Shaine A. Morris, a cardiologist at Texas Children's Heart Center and a colleague of Rivenes.  "There are only a handful of genetic disorders that can result aortic rupture at a young age.  Each disorder is usually associated with certain features."

The syndrome can have a variety of distinctive physical features, according to Dr. Harry Dietz, the American physician for whom half the syndrome is named.  Cranial facial features, including widely spaced eyes, a cleft palate and a small and receding chin; skeletal features, like a skull that has fused too early and does not allow proper brain growth; and translucent skin and abnormal scarring, all are signs of the condition, according to Dietz.

But Dietz said there is still a lot to learn about the condition, since it was only officially defined and described seven years ago.  The condition ranges greatly in severity.

"We've seen people in their 60s and 70s who have had a good quality of life, but people who have made themselves known early in the process tend to have the most severe form of the condition," he said.  "The most important finding in this discovery is the predisposition to blood vessel enlargement," said Dietz.  "That is what causes the early death in these patients."

Babies Eleanor and Olivia will likely need heart surgery in the future, but have the potential to live fairly normal childhoods, experts said.  However, they will be limited to certain activities, including contact sports, and excessive exercise that significantly increases the blood pressure, like weightlifting or gymnastics.

Copyright 2012 ABC News Radio

Wednesday
Sep142011

Genetic Testing for Aortic Aneurysms Could Spur Early Treatment

Comstock/Thinkstock(HOUSTON) -- There may be a way to genetically screen people who may be at risk for certain types of aortic aneurysms, according to new research from the University of Texas Health Sciences Center at Houston.

Twenty percent of the time, thoracic aortic aneurysms -- a swelling in the blood vessel that pumps blood throughout the body -- occur in patients who already have a family history of the disease.  At this point, doctors can screen them for certain genes that may indicate they are at increased risk, but up until recently there was little known about how to screen the other 80 percent of patients who, until their aneurysm ruptures, have no signs, symptoms or family history to alert doctors to their condition.

"We could screen the general population with echocardiograms, but that would be very expensive, so our other option is to screen genetically," says Dr. Dianna Milewicz, senior author on the research, published Sunday in the journal Nature Genetics.

Using the DNA of 765 aortic aneurysm patients who don't have a family history, researchers could identify a gene variant on chromosome 15 that makes its carriers twice as likely to have a thoracic aortic aneurysm and dissection, or TAAD.

Because about 35 percent of the population has this gene variant, this discovery alone is not enough to start genetically screening people for TAAD, but over the next five to 10 years, Milewicz says she and her collaborators at UTHealth and Baylor College of Medicine hope to identify enough gene variants to narrow the focus of the screening.

One to two percent of the population dies each year from aortic aneurysms, mostly individuals over the age of 60.  Forty percent of those with aortic aneurysms will die suddenly when they rupture.

Copyright 2011 ABC News Radio

Thursday
Jun162011

Genetic Abnormality Increases Risk of Aortic Aneurysms

Jupiterimages/Thinkstock(HOUSTON) -- Aneurysms are the bulging and weakening of small areas of the walls of arteries which can cause the blood vessels to burst at those sites.  When aneurysms are found on the aorta, the largest artery in the body, its rupture can lead to death.  In fact, an estimated 10,000 Americans die each year from ruptures of aortic aneurysms.  

By screening the genes of over 5,000 people of European descent, the authors of a study at the University of Texas Health Science Center found that a particular genetic abnormality was 12 times more likely to be present in people with aortic aneurysms than in the general population.  This suggests that the particular genetic abnormality may predispose individuals to aortic aneurysms and is therefore a risk factor for this condition.  

The authors state that “once doctors are able to use the entire genome [screen all the genes], people with duplications in 16p13.1 [the particular genetic abnormality] would need to have their aortas monitored.”

Copyright 2011 ABC News Radio







ABC News Radio