Impact of Renin-Angiotensin System Polymorphisms on Development of Systolic Dysfunction in Hypertrophic Cardiomyopathy – Evidence From a Study of Genotyped Patients –

摘要

Background: ?Although the renin-angiotensin system (RAS) can affect the development of left ventricular (LV) hypertrophy, few data exist regarding the relationships between RAS polymorphisms and alteration of LV function. The effect of RAS polymorphisms on LV function in genotyped hypertrophic cardiomyopathy (HCM) was examined in the present study. Methods and Results: ?The study group comprised 126 carriers with sarcomere gene mutations from 49 HCM families (64 males, mean age 51±21 years). LV morphology and function were evaluated by echocardiography. In angiotensin-converting enzyme (ACE) insertion/deletion (I/D), the D allele (n=81) exhibited significantly larger LV end-systolic dimension (LVDs) (32±11mm) and lower ejection fraction (56±15%) than those with the II genotype (28±7mm and 62±12%, respectively, P1-R) A/C1166 polymorphism did not affect echocardiographic parameters, the presence of the ACE D allele with the AT₁-R C1166 allele (n=9) was associated with larger LVDs (37±17mm) and lower ejection fraction (48±20%) compared with other genotypes (30±9mm and 58±14%, respectively, P1-R C1166 allele is associated with LV dilation with systolic dysfunction in genotyped HCM. In addition to the severity of LV hypertrophy, screening for these RAS polymorphisms could contribute to further risk stratification of patients with HCM, although other genetic polymorphisms should be further examined. ( Circ J 2010; 74: 2674-2680)