Abstract 14789: Impact of Genetic Analysis on the mode of Death in Genotyped Hypertrophic Cardiomyopathy
Background: Hypertrophic cardiomyopathy (HCM) is a disease of sarcomere. Sudden cardiac death in young subjects and heart failure in old subjects are the biggest issues for the management of HCM. In the era of genetic analysis, it is desirable to predict the cardiac death in genotyped HCM. However, few data exist regarding the relationship between the disease causing genes and the mode of death in genotyped HCM.
Methods and Results: We assessed the relationship between the disease causing genes and the mode of death in genotyped HCM. The study comprised of 119 HCM subjects with sarcomere gene mutations. We compared echocardiographic parameters and the mode of death between 56 patients with group-myosin (mutation carriers with cardiac beta-myosin heavy chain gene (n=16) and cardiac myosin binding protein C gene (n=40) (mean age=51.1) and 63 patients with group-troponin (cardiac troponin T gene (n=14) and cardiac troponin I gene (n=49) (mean age=40.1). No differences were found in interventricular septal wall thickness (IVST: 15.7 +/- 5.4 vs. 14.2 +/- 5.7 mm), left ventricular end-diastolic dimension (LVED: 44.7 +/- 7.4 vs. 44.4 +/- 6.4 mm), and LV ejection fraction (LVEF: 68.3 +/- 11.9 vs. 66.1 +/- 11.1 %), respectively, between 2 groups at baseline. At the follow-up period, there was no difference in freedom from total death, sudden death with LVEF > 50%, and death other than heart disease such as cancer (Figure). Interestingly, there was significant difference in freedom from death associated with systolic dysfunction (LVEF ≤ 50%) between the 2 groups (Kaplan Meier, Log Rank Test, P=0.009).
Conclusions: These results demonstrate that HCM patients with systolic dysfunction in group-troponin should more carefully be observed than those in group-myosin in terms of sudden cardiac death or heart failure death.
- © 2011 by American Heart Association, Inc.