title: [Analysis of morpho-functional parameters of the heart and polymorphisms of Renin-Angiotensin-aldosterone system genes in patients with different variants of the course of hypertrophic cardiomyopathy].
abstract: BACKGROUND
  Clinical course and prognosis of a hereditary myocardial disease hypertrophic cardiomyopathy (HCMP) is determined by multiple factors most of which have genetic nature.
  
  
  OBJECTIVE
  To study morpho functional parameters of the heart and polymorphisms of renin angiotensin aldosterone system genes in patients with various variants of the course of HCMP: stable variant (18%), atrial fibrillation (20%), progressing variant (51%), sudden cardiac death (9%) and "terminal stage" of disease (2%). Control group comprised 55 healthy people (mean age 44.6 +/- 10.3 years, =0.43). All patients went through examination which included molecular genetic and instrumental methods of investigation.
  
  
  RESULTS
  In the group of patients with progressing course we observed most frequent development of ECG changes characteristic of HCMP as well as asymmetrical myocardial hypertrophy caused by obstruction of LVOT. In the group of patients with variant "atrial fibrillation" we revealed increase of duration of P wave on ECG, development of more pronounced left atrial dilation and diastolic dysfunction. We established that presence of HCMP was associated with I/D polymorphism of gene and 1166/ polymorphism of AGTR1 gene. Unfavorable combination of allele variants of polymorphisms of RAAS genes exerts cumulative effect on phenotype of the disease and is associated with development of pronounced hypertrophy of the myocardium. The structure of hereditary susceptibility to development of stable variant of the disease course in patients with HCMP includes allele variants of -344 / polymorphism of CYP11B2 gene and 235 polymorphism of AGT gene. Development of the variant with atrial fibrillation is associated with allele variants of 1166/ polymorphism of AGTR1 gene and of the variant with progressing course - with I/D polymorphism of gene and -1903 A/G polymorphism of CMA1 gene.
authors.forename: Yu N
authors.initials: YN
authors.lastname: Belenkov
authors.forename: E V
authors.initials: EV
authors.lastname: Privalova
authors.forename: V Yu
authors.initials: VY
authors.lastname: Kaplunova
authors.forename: D V
authors.initials: DV
authors.lastname: Stambol'skiĭ
authors.forename: A A
authors.initials: AA
authors.lastname: Fomin
mesh_terms: D000328:Adult; D000483:Alleles; D000808:Angiotensinogen / Q000235:genetics; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D053818:Chymases / Q000235:genetics; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics; D018450:Disease Progression; D004562:Electrocardiography; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006321:Heart / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D011110:Polymorphism, Genetic; D011859:Radiography; D044140:Receptor, Angiotensin, Type 1 / Q000235:genetics; D012084:Renin-Angiotensin System / Q000235:genetics*; D014463:Ultrasonography
chemical_list: C534931:AGT protein, human; C544065:AGTR1 protein, human; D044140:Receptor, Angiotensin, Type 1; D000808:Angiotensinogen; D019405:Cytochrome P-450 CYP11B2; C509226:CMA1 protein, human; D053818:Chymases