Gene Test Could Catch Deadly Heart Problem

Aug. 1 -- THURSDAY, July 31 (HealthDay News) -- A series of genes linked to acute aortic dissection could lead to a rapid diagnostic test for this often fatal problem, German researchers report.

Acute aortic dissection is a tear in the lining of the aorta, the artery that carries blood from the heart to the rest of the body. About 2,000 people a year in North America suffer an acute aortic dissection, according to the American Heart Association.

"Thirty-three percent of acute aortic dissection patients die within the first 24 hours if they remain untreated because the disease is not diagnosed," lead researcher Salah A. Mohamed, from the Department of Cardiac Surgery at the University of Schleswig-Holstein said in a statement.

The report was presented Wednesday at the American Heart Association's Basic Cardiovascular Sciences Conference, in Keystone, Colo.

In the study, Mohamed's team looked at samples of aorta tissue from 19 patients who had acute dissection. These patients had no known connective tissue disease.

The samples were compared with samples from eight patients who had a mutant gene for Marfan syndrome, a disease that affects connective tissue, which in turn makes blood vessels weak. The researchers also compared tissue from six patients who had undergone heart valve replacement.

In all the patients who had acute aortic dissection, the researchers found 88 genes that were significantly different from the same genes in Marfan patients and in patients who had undergone heart valve replacement.

In addition, Mohamed's group found that a protein called MS FBN1 interacted with the proteins of four of the 88 genes, namely, fibulin 1 (FBLN1), fibulin 2 (FBLN2), Decorin (DCN), and microfibrillar associated protein 5 (MFAPS5).

All of these proteins are involved in building tissue that surround the cells in the aorta. Moreover, one of the four is involved in the development of Marfan syndrome, Mohamed noted.

The researchers found that two of the genes were overexpressed by at least threefold, and two were underexpressed by threefold. The underexpressed genes may explain the cause of acute aortic dissection, the researchers noted.