Mayo Clinic finding may double genetic screening effectiveness for sudden death heart...( s. In terms of the most immediate appl...),Health

s. "In terms of the most immediate application, the echocardiographic shape of the heart can help physicians give families more meaningful and accurate information about the role of genetic testing for that specific family. In terms of the future, it presents a research opportunity to explore how and why this distinct trait of heart anatomy occurs -- which hopefully will give us a better handle on HCM all around and help us design interventions to prevent or correct this defect."

Adds Michael Ackerman, M.D., Ph.D., the study's co-lead investigator and director of Mayo's Sudden Death Genomics Laboratory: "In moving basic research findings from the lab into the clinic where they can help patients, this may be one of the most substantive observations in the past 15 years linking gene mutations to specific symptoms that patients experience."

"Fundamentally, we have discovered that the two most common subtypes of HCM have markedly distinct genetic underpinnings," he says.

The Meaning of Shape
The researchers examined two distinct anatomical heart shapes. One shape is described as sigmoid, and the other is called reverse curvature. In their report, the researchers focus on an unusual feature that is more commonly observed in the hearts of patients diagnosed with HCM after age 50. The hearts of younger people with HCM generally lack this distinctive feature of heart anatomy known as sigmoid ventricular septum. It is a variance in the shape in one wall of the heart, and it has long been associated with a milder form of the disease. By comparison, the other distinctive shape -- reverse curvature of the ventricular septum -- dramatically alters the contours of the chamber. However, until the current era of genomic medicine brought the ability to link structural changes with specific gene activity, it was not clear that this distinctive structural feature was linked to specific mutations that cause HCM.

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

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