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Double Trouble: two gene defects increase severity and risk of death in heart disease patients

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Scientists at the forefront of sudden cardiac death (SCD) research have found that double gene mutations in patients with hypertrophic cardiomyopathy (HCM) are at increased risk of SCD and more severe disease presentation compared with individuals who only have one mutation. The Centenary Institute's Agnes Ginges Centre for Molecular Cardiology, headed by Associate Professor Chris Semsarian, have identified several 'killer' genes believed to be responsible for sudden cardiac death following tests on more than 400 Australian families with a history of heart disease. The group is amongst the first to report the association between double (two gene) mutations and disease severity and increased risk of SCD.

"By identifying families in which two gene defects are present means that we can be more aggressive in starting treatments aimed at reducing the complications of HCM, including heart failure and sudden death" explains A/Prof Semsarian.Approximately 5% of HCM patients are reported to carry double gene mutations. These findings have significant implications for approaches to genetic counselling and testing, and clinical management of patients and their families."Genetic screening should not cease after a single mutation has been identified," says A/Prof Semsarian. "The implications for a family of not identifying a second gene mutation could be devastating".HCM is an autosomal dominant disorder. A child has a 50% chance of inheriting the gene if one parent has HCM, and most affected individuals only have a single gene defect. However, double mutations significantly alter the chances of inheriting the gene defect in families. This highlights the need for more accurate genetic testing and further studies to identify the link between multiple mutations and disease symptoms.This work was carried out in collaboration with the Department of Genetics, Harvard Medical School, Boston, MA, USA, and supported by grants from the National Heart Foundation and the NH&MRC, Australia.(Source: Harvard Medical School & Centenary Institute: November 2006.)


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Posted On: 7 November, 2006
Modified On: 16 January, 2014

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