Vol 62, No 5 (2005)
Other
Published online: 2005-12-12
Submitted: 2012-12-28
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Familial hypertrophic cardiomyopathy. Insertion-deletion polymorphism of angiotensin-converting enzyme and angiotensin II receptor

Grażyna Gilanowska, Dorota Domal-Kwiatkowska, Sławomir Smolik, Przemysław Wilczewski, Jarosław Szarek, Ewa Nowalany-Kozielska, Urszula Mazurek, Jan Wodniecki, Tadeusz Wilczok
Kardiol Pol 2005;62(5):445-448.
Vol 62, No 5 (2005)
Other
Published online: 2005-12-12
Submitted: 2012-12-28

Abstract

Background: Hypertrophic cardiomyopathy (HCM) is a genetic-based disease. Several gene mutations leading to HCM development have been described.
Aim: 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 β-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.

Abstract

Background: Hypertrophic cardiomyopathy (HCM) is a genetic-based disease. Several gene mutations leading to HCM development have been described.
Aim: 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 β-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.
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Keywords

familial hypertrophic cardiomyopathy - gene β-myosin - polymorphism gene for ace and angiotensin 1 receptor

About this article
Title

Familial hypertrophic cardiomyopathy. Insertion-deletion polymorphism of angiotensin-converting enzyme and angiotensin II receptor

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Vol 62, No 5 (2005)

Pages

445-448

Published online

2005-12-12

Bibliographic record

Kardiol Pol 2005;62(5):445-448.

Keywords

familial hypertrophic cardiomyopathy - gene β-myosin - polymorphism gene for ace and angiotensin 1 receptor

Authors

Grażyna Gilanowska
Dorota Domal-Kwiatkowska
Sławomir Smolik
Przemysław Wilczewski
Jarosław Szarek
Ewa Nowalany-Kozielska
Urszula Mazurek
Jan Wodniecki
Tadeusz Wilczok

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