Newswise — HOUSTON – (Aug. 21, 2012) – Thanks to a cousin’s warning that thoracic aortic disease ran in their family, Houstonian Pat Arthur discovered that he carried a genetic defect that could cause his aorta to dissect and rupture with little or no warning. He also learned that this particular defect resulted in an aggressive form of the disease and the growing aneurysm spotted with a scan needed to be surgically corrected sooner than later.
It was life-saving information.
Now a new clinic devoted to integrated care for aortic disease is able to merge personalized genetic information with clinical care at The University of Texas Health Science Center at Houston (UTHealth).
The new clinic will provide state-of-the-art care of patients with aortic and other vascular disease, with a particular emphasis on managing the disease based on the underlying genetic alteration that is causing the disease. “This is the epitome of personalized medicine,” said Dianna M. Milewicz, M.D., Ph.D., director of the Division of Medical Genetics and the President George H.W. Bush Chair in Cardiovascular Medicine at UTHealth. “This is one of the first diseases that we can treat based on the underlying gene causing the disease.”
The Multidisciplinary Aortic and Vascular Disease Clinic includes a medical geneticist, genetic counselors, cardiologists, and cardiothoracic and vascular surgeons who specialize in providing care to individuals and families with thoracic aortic aneurysms and dissections, as well as other vascular diseases and cardiac valve abnormalities. Congenital disorders such as bicuspid aortic valve and genetic syndromes such as Marfan syndrome and Loeys-Dietz syndrome can lead to thoracic aortic disease. In addition, thoracic aortic disease can be inherited in families without any features of a syndrome.
Milewicz directs a $12 million grant from the National Heart, Lung & Blood Institute (RO1 HL62594; P50HL083794-01), part of the National Institutes of Health, for collaborative research on thoracic aortic disease. She and her research team at UTHealth’s John Ritter Research Program in Aortic and Vascular Diseases have discovered four genes that predispose people to familial thoracic aortic aneurysms and dissections and have confirmed that another four contribute to familial disease. Defects in some of these genes also affect other parts of the vascular system and can result in intracranial aneurysms, early onset coronary artery disease, ischemic stroke and Moyamoya disease. If patients know they carry a particular gene defect, they can be treated with medications and monitored for signs of disease. In the case where there appears to be a familial link but the gene defect has not been discovered, family members can undergo regular screening for vascular disease to prevent premature deaths and strokes.
“This is translational medicine – a direct pipeline from research to the clinic,” said cardiologist Siddharth Prakash, M.D., assistant professor of internal medicine at UTHealth. “We can look at the risk factors and the long-term survival and tailor that according to the genetic work of Dr. Milewicz and her team.”
Surgical care for patients is centered at the Memorial Hermann Heart & Vascular Institute (HVI) in the Texas Medical Center. Hazim Safi, M.D., professor and chair of the Department of Cardiothoracic & Vascular Surgery and chief of cardiothoracic and vascular surgery at HVI, and Anthony Estrera, M.D., are also involved in the care of these patients. The clinic is part of UT Physicians, the clinical practice of the UTHealth Medical School. For more information, call (832) 325-7211.
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