RESUMEN
To investigate the association between angiotensin-converting enzyme [ACE] insertion/deletion [I/D] polymorphism and rheumatic heart disease [RHD] in Saudi patients. A case-control study was conducted in Saudi RHD patients. Genomic DNA was isolated from 99 RHD patients attending the Pediatric Cardiology Clinic at the Maternity and Children Hospital, Al-Madinah, Saudi Arabia from March 2013 to June 2014, and from 145 age- and gender-matched controls. Patient clinical records were reviewed to report major and minor modified Jones' criteria for diagnosis. The diagnosis was confirmed by echocardiography. The ACE I/D polymorphism was identified by polymerase chain reaction. A significant difference in ACE D allele carriage [DD+ID] distribution between RHD cases and controls was identified [p=0.02, odds ratio = 3.6, 95% confidence interval: 1.2-10.8]. The D allele carriage was significantly associated with development of mitral valve lesions alone [p=0.03]. The ACE I/D polymorphism is associated with an increased risk of RHD in the Saudi population. Further studies are needed to confirm our findings and to understand the molecular mechanisms underlying this association