Clinical predictors of informative genetic testing in hypertrophic cardiomyopathy.

Research letter

Clinical prediction of genotypes in hypertrophic cardiomyopathy: A Systematic Review.

INTRODUCTION Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition and the most common cause of sudden cardiac death (SCD) in patients below the age of 35. Genetic testing is a vital part of HCM diagnostics, yet correlation with clinical phenotypes remains complex. Identifying clinical predictors of informative genetic testing may prevent unnecessary investigations and improve cost-effectiveness of services. This article reviews the current literature pertinent to identifying such predictors. METHODS Five literature databases were screened using a suitably designed search strategy. Studies investigating the correlation between having a positive genetic test for HCM and a range of clinical and radiological parameters were included in the systematic review. RESULTS 29 observational studies of a total of 9,486 patients were included. The main predictors of informative genetic testing were younger age, higher septal thickness, reverse septal curvature, family history of HCM and SCD, and the absence of hypertension. Two externally validated scoring systems have also been developed: the Mayo and Toronto scores. Novel imaging markers and complex algorithmic models are emerging predictors. CONCLUSION Using clinical predictors to decide whom to test is a feasible alternative to investigating all-comers. Nonetheless, currently there is not enough evidence to unequivocally recommend for or against this strategy. Further validation of current predictors and identification of new ones remain open research avenues

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Funding Information: We thank Dr A. Shah for his help with the preparation and critical appraisal of this manuscript. Funding support for this study was received from the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre. No other external funding or competing interests declared.Peer reviewedPublisher PD