Abstract 12056: Factors Affecting the Decision to Undergo Genetic Testing in Patients with Hypertrophic Cardiomyopathy
Introduction: Genetic testing for hypertrophic cardiomyopathy (HCM) has emerged as an important tool to identify at-risk family members who would potentially benefit from periodic cardiac screening for development of overt HCM phenotype. We sought to identify potential factors that play a role in the decision-making to pursue genetic testing in a HCM proband.
Methods: This study included 108 consecutive adults with HCM seen for genetic counseling between 12/2009 and 4/2011. We collected data on demographics, children, siblings, type of health insurance, family history of sudden cardiac death (SCD) and HCM, presence of internal defibrillator (ICD), need for surgical myectomy and whether they had commercially available genetic testing for at least 11 genes most commonly associated with HCM.
Results: The mean age of the study population at presentation was 52 ± 14 years with 75 (69 %) males. Overall, 20 (18 %) and 52 (48 %) patients had family history of HCM and SCD, respectively. The mean number of children and siblings were 2 ± 1 and 3 ± 2, respectively. Thus far, 62 (58 %) patients have undergone surgical myectomy and 23 (21 %) patients have had an ICD placed. Two (2 %) patients had no insurance, 21 (19 %) had medicare/medicaid and 85 (79 %) had private insurance. Of the 55 (51 %) probands that underwent genetic testing, 16 (31 %) were gene positive, while 5 (9 %) had a variant of unknown significance and 33 (60 %) were negative. Of the 16 gene-positive individuals, family history of HCM and SCD were absent in 8 (50 %) and 7 (44 %), respectively. Logistic regression analyses of potential factors associated with the decision to undergo genetic testing are shown in the Figure.
Conclusion: The decision to undergo genetic testing was independently associated with a younger age at presentation, number of children, presence of ICD and a family history of SCD. The type of health insurance did not play a significant role in the decision-making to undergo genetic testing.
- © 2011 by American Heart Association, Inc.