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Early diagnosis of genetic conditions saves lives
The new Cardiovascular Genetics Clinic at Rhode Island Hospital is the first in the state to offer evaluation and genetic counseling for cardiac conditions.
“About 20 to 40 percent of common heart problems are inherited,” said Joseph B. Weiss, MD, PhD, the director of the new clinic and a cardiologist with the Cardiovascular Institute of Rhode Island, The Miriam and Newport hospitals. “Although cardiac disease can be caused by lifestyle, some inherited cardiac diseases elude detection and the first ‘symptom’ may be sudden cardiac death.”
Early diagnosis and treatment of life-threatening, inherited cardiac conditions via genetic testing and family screening can prevent catastrophic events.
“If we can identify an inherited cardiac disease in advance, keep it under surveillance, and intervene appropriately, a patient’s life can be dramatically improved and prolonged,” said Weiss.
Family-related cardiovascular syndromes are more common than previously recognized or anticipated. Heart disease is the leading cause of death for both men and women in the United States. The risk for heart disease can increase even more when heredity is combined with unhealthy lifestyle choices, such as cigarette-smoking and poor diet.
“If someone thinks, ‘I have a family history of sudden cardiac death, and I want to talk to someone about it,’ I encourage you to come in, talk to us and see if you or your family members are a candidate for genetic testing,” said Jennifer Schwab, a certified genetic counselor at the Cardiovascular Institute.
After the evaluation and genetic testing, the clinic offers counseling, referrals and follow-up for all confirmed cases.
The clinic accepts self-referrals as well as physician referrals.
Weiss cited the progress in detecting and treating Marfan syndrome as proof that early genetic testing extends lives.
“The average lifespan of a Marfan’s patient used to be about 35 years,” he said. “Research revealed that the size of the aorta was a predictor of catastrophe. If we can monitor the aorta, we can replace the enlarged part before it tears. Thanks to this approach, the average lifespan of individuals with Marfan syndrome is now 70 years.”
To make an appointment at the Cardiovascular Genetics Clinic, call 401-845-1201 or email email@example.com