Influence of angiotensin-converting enzyme and angiotensinogen gene polymorphisms in the phenotypic expression of Spanish patients with hypertrophic cardiomyopathy

BACKGROUND: Hypertrophic cardiomyopathy (HCM) has a great variability in it s morphofunctional expression. This study analyzes whether angiotensin-conv erting enzyme (ACE) and angiotensinogen (AGT) gene polymorphisms modulate t he phenotypic expression in Spanish patients with HCM. PATIENTS AND METHODS: Forty Spanish HCM patients were studied. Twenty-six o ut of these 40 patients belonged to 7 families with familial HCM, and the r emaining 14 patients had either a sporadic HCM or a HCM with unknown family incidence. A group of 269 healthy subjects was included as control for the genotype study. Maximal wall thickness, ventricular mass and several diast olic function indexes were measured in each patient by Doppler-echocardiogr aphy. The insertion/deletion (IID) polymorphism of ACE gene and the M235T p olymorphism of AGT gene were studied in both patients and healthy subjects. RESULTS: A higher frequency in patients than in controls was found for D al lele (0.79 vs 0.64; p = 0.02) and for DD genotype (62.5 vs 41.2%; p = 0.02) . Conversely, no difference was observed in M235T polymorphism between both groups. Neither DD genotype of ACE, nor TT genotype of AGT determined a gr eater degree of ventricular hypertrophy or a worse diastolic function in pa tients with HCM. CONCLUSIONS: D allele and DD genotype are predisposing factors to express H CM. In this series of Spanish patients, I/D polymorphism of ACE and M235T p olymorphism of AGT do not modify phenotypic expression of HCM.