Although the gene positive individuals lacked the characteristic left ventricular wall thickening of HCM, 1 of 5 patients who carried the HCM gene showed marked regional perfusion defects when compared to healthy individuals. Hence, the researchers concluded that a person who is gene positive for the disease may show reduced cardiac perfusion before they develop hypertrophy.
The study compared 50 patients who carried the HCM gene but had no signs of left ventricular hypertrophy to 28 healthy individuals. Both groups underwent Cardiac MRI testing.
The researchers theorize that perfusion mapping may be a useful way to identify HCM gene carriers who will go on to develop the disease.