title: Familial hypertrophic cardiomyopathy. Insertion-deletion polymorphism of angiotensin-converting enzyme and angiotensin II receptor.
abstract: BACKGROUND
  Hypertrophic cardiomyopathy (HCM) is a genetic-based disease. Several gene mutations leading to HCM development have been described.
  
  
  OBJECTIVE
  Detailed examination of phenotype and genotype of a family with HCM.
  
  
  METHODS
  Clinical and genetic examinations were performed in a family with HCM, in which 3 sick persons with different disease phenotype were found.
  
  
  RESULTS
  In all sick persons the same molecular substitution G->A (AGG->AAG) was noticed. It led to substitution Arg780-Lys in exon 21 beta-myosin heavy chain gene, which was responsible for the development of the disease. Insertion- deletion polymorphism analysis in ACE gene revealed D/D (deletion/deletion) genotype in proband and D/I (deletion/ insertion) phenotype in his mother and sister, who were heterozygous. Polymorphism A1166C analysis in AT1 gene revealed the presence of genotype A/A in proband and A/C in his mother and sister. In proband and his sister a very similar phenotype was observed, whereas they had different polymorphism for ACE gene and angiotensin 1 receptor gene. In sick proband's mother, who had phenotype different to her children, the same polymorphism as in his daughter was noticed.
  
  
  CONCLUSIONS
  In the described family with HCM, different phenotype and polymorphism of ACE and AT1 genes were found.
authors.affiliation: 2nd chair and Department of Cardiology, Zabrze.
authors.forename: Grazyna
authors.initials: G
authors.lastname: Gilanowska
authors.forename: Dorota
authors.initials: D
authors.lastname: Domal-Kwiatkowska
authors.forename: Sławomir
authors.initials: S
authors.lastname: Smolik
authors.forename: Przemysław
authors.initials: P
authors.lastname: Wilczewski
authors.forename: Jarosław
authors.initials: J
authors.lastname: Szarek
authors.forename: Ewa
authors.initials: E
authors.lastname: Nowalany-Kozielska
authors.forename: Urszula
authors.initials: U
authors.lastname: Mazurek
authors.forename: Jan
authors.initials: J
authors.lastname: Wodniecki
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Wilczok
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D044140:Receptor, Angiotensin, Type 1 / Q000235:genetics; D011945:Receptors, Angiotensin / Q000235:genetics*
chemical_list: D044140:Receptor, Angiotensin, Type 1; D011945:Receptors, Angiotensin; D007703:Peptidyl-Dipeptidase A