Primary cardiomyopathies are multifactorial diseases. Genetic factors other than the causal mutations in the modified genes affect the phenotypic expression of dilated cardiomyopathy. The aim of this study was to determine the association of angiotensinconverting enzyme I/D polymorphism with the risk of dilated cardiomyopathy in a Tunisian population. A total of 76 patients with dilated cardiomyopathy was compared to 151 ethnically, age-and gender-matched controls. The frequencies of the DD genotype and D allele were significantly higher in patients as compared with controls, and were associated with increased risk of dilated cardiomyopathy (ACE DD versus ID and II: OR = 3.05 (95% CI, 1.58-5.87; p = 0.001)); D versus I: OR = 2 (95% CI: 1.35-2.97; p = 0.001)). No association was found between the combined genotypes (DD+ID) or D allele and left ventricular end diastolic diameter in dilated cardiomyopathy patients with severe and moderate clinical phenotypes. DD genotype and D allele of angiotensin-converting enzyme I/D gene polymorphism are associated with increased risk of dilated cardiomyopathy in a Tunisian population but do not influence the cardiac phenotype severity.
Cardiomyopathies (CMs) are primary disorders of cardiac muscle. They are a major cause of morbidity and mortality for all ages and, like acquired forms of cardiovascular disease, often result in heart failure. Molecular genetic studies have made remarkable progress in defining the pathogenesis of CM. The present study was the first report to evaluate the relationship between class II major histocompatibility complex (MHC) genes (HLA-DRB1 and HLA-DQB1) and the genetic susceptibility to primary dilated cardiomyopathy (DCM) in Tunisian patients. The human leukocyte antigen (HLA)-DRB1 and -DQB1 alleles were analyzed in 76 patients with primary DCM and 111 ethnically matched healthy controls using polymerase chain reaction-sequence specific primers technique. An increased frequencies of HLA-DRB1*0401 (OR = 2.67, P < 0.001), HLA-DQB1*0302 (OR = 3.28, P = 0.001) and HLA-DQB1*0401 (OR = 6.26, P = 0.005) alleles were found in the patients with primary DCM compared with healthy controls. Individuals with HLA-DRB1*1301 (OR = 0.24, P < 0.001) and HLA-DQB1*0201 (OR = 0.49, P = 0.002) alleles have a protective effect against primary DCM. Two haplotypes were associated with increased risk of primary DCM: DRB1*0401/DQB1*0302 (OR = 4.53, P = 0.002) and DRB1*0401/DQB1*0401 (OR = 9.42, P = 0.004). In conclusion, our data suggest that the variation in class II HLA alleles could be a genetic factor involved in the susceptibility to primary DCM in the Tunisian population.
Patients with single ventricle and Eisenmenger syndrome rarely reach adult life. Pregnancy with this condition is exceptional and fundamentally perturbs hemodynamic stability. In spite of the development of anesthesia and resuscitation and the description of some cases in literature, pregnancy with Eisenmenger syndrome is contraindicated.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations鈥揷itations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.