Russian Heart Failure Journal 2011year HFE genotypes in patients with heart failure: clinical and genetic aspects and prognosis
HFE genotypes in patients with heart failure: clinical and genetic aspects and prognosis
Pushkareva A. E., Khusainov R. I., Khusnutdinova N. N., Khusnutdinova E. K.
Keywords: HFE genotypes, clinical picture, prognosis, CHF
Relevance. Despite achieved successes in treatment of chronic HF, the prognosis of this pathology is still most unfavorable, that is why possibilities of early diagnostics and preventive approaches in treatment are still extremely relevant. Purpose. The study of clinical genetic aspects of hemochromatosis (HFE) gene mutation effects on CHF development with different heart remodeling types. Materials and methods. 203 patients with CHF (170 male and 33 female, average age 51.5±4.2 years) were studied. Genotype identification was performed by RFLP analysis of PCR products. The reference group comprised 240 people (178 male and 62 female, average age 52.6±4.6 years), who had no data proven signs of cardiovascular pathologies. Results. During the study C282Y, H63D and S65C mutations were revealed in 34,97 % patients with CHF from the Republic of Bashkortostan, 37.65 % male and 24.24 % female. And frequency rate of three studied mutations amounted 43.53 % patients with eccentric LV hypertrophy in comparison to the patients with concentric LV hypertrophy, in 28.81 % of them HFE mutations were detected. Mutation rate increase is observed both in female (50 %) and in male patients with eccentric LV hypertrophy (43.59 %). Rather high frequency rate of three studied HFE mutations in our patients with CHF allows an assumption that HFE mutation carriage effects myocardium remodeling processes during HF development in patients with cardiovascular pathology of working age in the Republic of Bashkortostan.
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Pushkareva A.E., Khusainov R.I., Khusnutdinova N.N. et al. HFE genotypes in patients with heart failure: clinical and genetic aspects and prognosis. Russian Heart Failure Journal. 2011;12(6):356-361.