Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

Ingles, Jodie, Sarina, Tanya, Yeates, Laura, Hunt, Lauren, Macciocca, Ivan, Mccormack, Louise, Winship, Ingrid, McGaughran, Julie, Atherton, John and Semsarian, Christopher (2013) Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. Genetics in Medicine, 15 12: 972-977. doi:10.1038/gim.2013.44

Author Ingles, Jodie
Sarina, Tanya
Yeates, Laura
Hunt, Lauren
Macciocca, Ivan
Mccormack, Louise
Winship, Ingrid
McGaughran, Julie
Atherton, John
Semsarian, Christopher
Title Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy
Journal name Genetics in Medicine   Check publisher's open access policy
ISSN 1098-3600
Publication date 2013-01-01
Year available 2013
Sub-type Article (original research)
DOI 10.1038/gim.2013.44
Open Access Status Not Open Access
Volume 15
Issue 12
Start page 972
End page 977
Total pages 6
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Language eng
Formatted 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.
Keyword Genetic counseling
Genetic testing
hypertrophic cardiomyopathy
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
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