Familial hypertrophic cardiomyopathy. Insertion-deletion polymorphism of angiotensin-converting enzyme and angiotensin II receptor.
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.
Gilanowska
Grazyna
G
2nd chair and Department of Cardiology, Zabrze.
Domal-Kwiatkowska
Dorota
D
Smolik
Sławomir
S
Wilczewski
Przemysław
P
Szarek
Jarosław
J
Nowalany-Kozielska
Ewa
E
Mazurek
Urszula
U
Wodniecki
Jan
J
Wilczok
Tadeusz
T
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*
D044140:Receptor, Angiotensin, Type 1; D011945:Receptors, Angiotensin; D007703:Peptidyl-Dipeptidase A