lunes, 29 de abril de 2013

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy : Genetics in Medicine : Nature Publishing Group

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy : Genetics in Medicine : Nature Publishing Group


Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy





Journal name:

Genetics in Medicine
(2013)

DOI:

doi:10.1038/gim.2013.44


Received


Accepted


Published online




Abstract




Purpose:



Genetic testing for hypertrophic cardiomyopathy has been commercially available for almost a decade; however, low mutation detection rate and cost have hindered uptake. This study sought to identify clinical variables that can predict probands with hypertrophic cardiomyopathy in whom a pathogenic mutation will be identified.


Methods:



Probands attending specialized cardiac genetic clinics across Australia over a 10-year period (2002–2011), who met clinical diagnostic criteria for hypertrophic cardiomyopathy and who underwent genetic testing for hypertrophic cardiomyopathy were included. Clinical, family history, and genotype information were collected.


Results:



A total of 265 unrelated individuals with hypertrophic cardiomyopathy were included, with 138 (52%) having at least one mutation identified. The mutation detection rate was significantly higher in the probands with hypertrophic cardiomyopathy with an established family history of disease (72 vs. 29%, P < 0.0001), and a positive family history of sudden cardiac death further increased the detection rate (89 vs. 59%, P < 0.0001). Multivariate analysis identified female gender, increased left-ventricular wall thickness, family history of hypertrophic cardiomyopathy, and family history of sudden cardiac death as being associated with greatest chance of identifying a gene mutation. Multiple mutation carriers (n = 16, 6%) were more likely to have suffered an out-of-hospital cardiac arrest or sudden cardiac death (31 vs. 7%, P = 0.012).


Conclusion:



Family history is a key clinical predictor of a positive genetic diagnosis and has direct clinical relevance, particularly in the pretest genetic counseling setting.

Genet Med advance online publication 18 April 2013



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