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Jul 29 (HeartCenterOnline) - Researchers at University Texas of Medical School have uncovered a genetic mutation that is linked to deadly aortic aneurysms.
Aortic aneurysm kills about 18,000 people annually in the United States. During aortic aneurysm, a section of the aorta wall bulges out and weakens. There are frequently no symptoms, but if the weakened part of the aorta ruptures, death often follows in minutes.
Until this study, no underlying causes of aortic aneurysms had been discovered, although there was a clear familial link. About 20 percent of people who suffer from aortic aneurysms have close relatives who have also suffered from the condition, according to the study authors.
The researchers studied families and found a defect on the transforming growth factor beta receptor type II (TGFBR2) gene. Such a finding is critically important. It opens new possibilities for treatment, and it allows physicians to design an early screening test that might identify people at risk for aortic aneurysm.
Aortic aneurysm is a particularly difficult condition to detect. According to a release describing the study, even patients who report to the emergency room with chest pain may not be correctly diagnosed with aortic aneurysm because standard diagnostic tests do not screen for aortic disease.
The study authors recommend that anyone who has family members with aortic disease be regularly screened for aortic aneurysm with diagnostic tests such as magnetic resonance imaging or echocardiography. If an aneurysm is detected, it can be managed medically and monitored closely. They recommend surgical intervention for any aneurysm that is greater than 5 cm in width.
The study appeared in the recent edition of Circulation.
Copyright 2000-2005 (HealthCentersOnline)
Publish Date: July 29, 2005
Aortic aneurysm kills about 18,000 people annually in the United States. During aortic aneurysm, a section of the aorta wall bulges out and weakens. There are frequently no symptoms, but if the weakened part of the aorta ruptures, death often follows in minutes.
Until this study, no underlying causes of aortic aneurysms had been discovered, although there was a clear familial link. About 20 percent of people who suffer from aortic aneurysms have close relatives who have also suffered from the condition, according to the study authors.
The researchers studied families and found a defect on the transforming growth factor beta receptor type II (TGFBR2) gene. Such a finding is critically important. It opens new possibilities for treatment, and it allows physicians to design an early screening test that might identify people at risk for aortic aneurysm.
Aortic aneurysm is a particularly difficult condition to detect. According to a release describing the study, even patients who report to the emergency room with chest pain may not be correctly diagnosed with aortic aneurysm because standard diagnostic tests do not screen for aortic disease.
The study authors recommend that anyone who has family members with aortic disease be regularly screened for aortic aneurysm with diagnostic tests such as magnetic resonance imaging or echocardiography. If an aneurysm is detected, it can be managed medically and monitored closely. They recommend surgical intervention for any aneurysm that is greater than 5 cm in width.
The study appeared in the recent edition of Circulation.
Copyright 2000-2005 (HealthCentersOnline)
Publish Date: July 29, 2005
