Test for rare genetic condition worth it

Dear Dr. Roach: Two weeks ago, my sister-in-law, age 74 and in excellent health, collapsed and died suddenly and unexpectedly while working full time at a nearby university. The autopsy reports that she died from aorta root rupture. My brother and all of us need to more fully understand these words. What causes aorta root rupture? What are its symptoms? Does stress play a significant part in this kind of death? Is this genetic? – M.B.

I am sorry to your sister-in-law.

The aortic root is the beginning of the aorta, the largest blood vessel in the body. The root is right where it begins at the aortic valve, where blood comes out of the left ventricle. A rupture at this point almost always means an aneurysm, an enlargement of the blood vessel. As the blood vessel expands, it thins; the pressure against the wall of the vessel increases, further increasing the risk of rupture.

The most common risk factors for aortic root aneurysm are smoking, high blood pressure, diabetes and high cholesterol. However, even with multiple risk factors, this is a rare condition (seen in about one person in 10,000), is much more likely in men than in women. Stress may increase blood pressure, and can predispose people to bad habits, but it is not a direct risk for aortic aneurysm or rupture.

Marfan syndromeis a genetic condition characteristically associated with aneurysms of the aortic root. People with Marfan syndrome often are taller than their parents, with disproportionally long arms. Most authorities recommend that first-degree family members (siblings, children) of people who had a dilatation or aneurysm of the thoracic aorta get evaluated by a screening test. I would recommend that your sister-in-law’s immediate family discuss this with their physicians. More information is available atwww.marfan.org. hear about