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Identical twins Penni James and Patti Garner were 6 years old in 1965 when they watched their 28-year-old mother slowly bleed to death from a dissected thoracic aorta. Ten years later, their 18-year-old brother dropped dead when his aorta ruptured.
”No matter what it looks like, it’s not hereditary,” a physician told them in 1975.
He was wrong.
Researcher Dianna Milewicz, MD, PhD, director of the Division of Medical Genetics at The Houston of Texas Medical School at Houston, began publishing articles on familial aortic aneurysm disease in 1998. The President George H.W. Bush Professor of Cardiovascular Medicine announced her first discovery of a gene defect causing the disease in the American Heart Association journal Circulation in 2005.
She has since discovered three more defective genes linked to the disease, including the one James’ and Garner’s mother passed down to them.
“If someone is found to have one of these alterations or mutations in the gene, diagnostic imaging can be done and they can be monitored,” Milewicz says. “If you have the defective gene, you are at a high risk for an aortic dissection during your lifetime, and with some genes, this risk is greater than 90 percent.”
The aorta is the main blood vessel leading out of the heart and supplies blood to the rest of the body. Some people develop a progressive degeneration of the aortic wall, leading to a bulging aneurysm, or to a dissection (a tear in the wall). Experts estimate that 20 percent of patients with thoracic aortic aneurysms or dissections have a genetic link. Thoracic aneurysms tend to be without symptoms until a catastrophic dissection or rupture occurs.
Thoracic aortic disease is the 15th leading cause of death in the United States, killing up to 20,000 people a year. Beloved comedic actor John Ritter, 54, and “Rent” creator Jonathan Larson, 35, both died from aortic aneurysms. Ritter’s widow is actress Amy Yasbeck, founder of the John Ritter Foundation for Aortic Health; her daughter Stella and other members of Ritter’s family have enrolled in Milewicz’ research.
If detected early enough, an aneurysm or dissection can be repaired before it becomes life-threatening. Hazim J. Safi, MD, professor and chairman of the Department of Cardiothoracic Vascular Surgery at the medical school, learned the pioneering surgical technique to repair thoracic aortic aneurysms from Denton Cooley, MD, and the late Michael DeBakey, MD. Safi is chief of Cardiothoracic and Vascular Surgery at the Memorial Hermann Heart & Vascular Institute.
Usually, patients have only minutes or hours before a dissection ruptures. But like her mother, James lived for six years with an apparent dissection. At age 27 when she was nine months pregnant, James experienced pain in her chest, arm and jaw as her aorta began to dissect. But it wasn’t discovered until she underwent open heart surgery after cardiac arrest when she was 34. Surgeons found she had a dissection so severe it had ripped towards her heart damaging her aortic valve and up into the carotid arteries.
From left, Dong Kim, M.D., chairman of the Department of Neurosurgery at the UT Medical School at Houston, explains the results of brain imaging to identical twins Patty Garner and Penni James.
Several days after her brain surgery in 2007, Penni James, third from left, is visited by her identical twin sister Patti Garner and James’ children Brandon and Kylee. James, Garner and Kylee carry the defective gene. Brandon does not.
Garner had no signs of the disease yet. But out of the blue, her athletic 16-year-old son almost died when his aorta dissected in 2002. Subsequent damage to the organs that suffered blood loss resulted in eight surgeries over four months.
That same year, the twins learned about Milewicz’ research and enrolled. “The way it was explained to me is that a defect in the DNA is like trying to find a misspelling in the dictionary,” James says.
Physicians encouraged Garner to go through diagnostic imaging and discovered that her aorta was 20 percent larger than normal. In 2003, she had surgery to repair it.
Seemingly unrelated, James’ 16-year-old daughter began to have mini strokes and had to undergo an innovative brain surgery technique by Dong Kim, MD, professor and chairman of the Department of Neurosurgery at the medical school.
In fact, the strokes and aortic disease were related and their family helped solve one of the mysteries that had troubled Milewicz, who discovered their gene defect in 2006.
“Families with a strong history of stroke and coronary artery disease asked if it all could be related and I told them at the time that they just had really bad luck with several bad genes in the family,” Milewicz says. “It didn’t occur to me until later that it might be from the same genetic defect because it went against scientific understanding of disease in arteries.”
Milewicz linked that particular genetic defect in the vascular smooth cell-specific isoform of a-actin (ACTA2) to diseases affecting the arteries, including thoracic aortic aneurysms and dissections, early onset coronary artery disease, Moyamoya disease and stroke. Coronary artery disease, the most common type of heart disease, is the leading cause of death for both men and women in the United States. Stroke is the third leading cause of death in the country. James, Garner and three of their collective four children carry the gene defect.
In December 2007, Kim also performed brain surgery on James to halt progressively worsening mini strokes. Kim, director of the Mischer Neuroscience Institute at Memorial Hermann-TMC, suggested that Garner undergo a magnetic resonance imaging (MRI) scan of her brain.
“They says our MRI scans could be interchanged,” James says. “We’re all susceptible to mini strokes. It made sense to me once I figured it out. It explained the vision problems and the pressure in my head and why Patti has numbness and tingling in one arm.”
Armed with their genetic knowledge, family members must pay close attention to their health and get regular scans of their vascular system including aortas, carotid arteries and brains.
Their mother and brother never had a chance. Thanks to genetic research, along with medical and surgical care, they do.
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Dr. Dianna Milewicz is a professor and director of the Division of Medical Genetics at the UT Medical School.
Dr. Hazim J. Safi is professor and chairman of the Department of Cardiothoracic Vascular Surgery at the UT Medical School.
Dr. Dong Kim is professor and chairman of the Department of Neurosurgery at the UT Medical School.
What a Difference
60 Minutes Can Make
It’s just an hour. At 2 a.m. on March 14, time changes as we “spring forward” one hour overnight. It wouldn’t seem to be that big of a deal, but it is according to researchers at the University of Michigan’s Center for Sleep Science. They have found that in the days immediately following the spring time change each year more people have serious car accidents, most likely due to the sleep loss and adjustments that our biological clocks must make to the new schedule.
To prepare for the time change, start going to bed and waking up 15 minutes earlier each day between now and the start of Daylight Savings Time. This helps reset your biological clock.
The spring time change isn’t the only time we should be concerned about our levels of sleep. According to the sleep researchers, adults ought to get 8 to 8.5 hours of sleep every night, but few of us do. This does more than leave us groggy in the mornings. Findings have shown that a lack of sleep may increase risks of obesity, diabetes, stroke and heart attacks.
The National Sleep Foundation offers this advice for healthy sleep:
