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Mayo Clinic finding may double genetic screening effectiveness for sudden death heart condition

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The researchers examined 382 unrelated patients in the Mayo Clinic Hypertrophic Cardiomyopathy Clinic over a four-year period, analyzing eight known HCM-susceptibility genes. These eight genes comprise the available clinical genetic test for HCM. Next -- and without prior knowledge of the results of the patients' genetic profiles -- the researchers evaluated traditional medical exam data, including patient medical history, and anatomical and functional findings, such as blood pressure and echocardiography images. Echocardiography is a common noninvasive way to make a moving picture of the heart's structure and function using ultrasound. It transmits sound waves through the heart and records them on an electronic sensor to create a moving picture.

Findings
In the final step, the researchers matched the gene screening results to traditional exam results -- and found a consistent correlation between heart muscle shape and the presence of HCM-associated mutations. Regardless of age, if the heart muscle had the sigmoid shape, the yield of the genetic test was only 8 percent compared to 79 percent when the shape was reverse curvature. Collaboration and Support


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Contact: Traci Klein
newsbureau@mayo.edu
507-284-5005
Mayo Clinic
19-Apr-2006


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