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[ATR1 gene polymorphism in patients with hypertrophic cardiomyopathy and hypertensive heart]

M D Smirnova, T V Fofanova, Z B Khasanova

    Kardiologiia
    |February 12, 2010
    PubMed

    Insights

    The A/C polymorphism of the ATR1 gene influences left ventricular hypertrophy (LVH) severity. Type AA genotype in hypertrophic cardiomyopathy (HCMP) patients correlates with more severe symptoms and arterial hypertension.

    Area of Science:

    • Cardiovascular Genetics
    • Molecular Cardiology
    • Hypertension Research

    Background:

    • Left ventricular hypertrophy (LVH) is a significant risk factor for cardiovascular events.
    • Genetic factors, including angiotensin II type 1 receptor (ATR1) gene polymorphisms, may influence LVH development and severity.
    • Understanding these genetic links is crucial for personalized risk assessment in hypertrophic cardiomyopathy (HCMP) and hypertensive disease (HD).

    Purpose of the Study:

    • To analyze the association between the A/C polymorphism of the ATR1 gene and the clinical presentation of LVH.
    • To investigate the correlation between ATR1 gene polymorphism and the severity of LVH in patients with HCMP and HD.
    • To determine if specific ATR1 genotypes influence the development of arterial hypertension and left ventricular outflow tract obstruction.

    Main Methods:

    • Polymerase chain reaction (PCR) genotyping was used to determine the A/C polymorphism of the ATR1 gene.
    • Study population included 35 patients with HCMP and 33 patients with LVH secondary to long-standing hypertension (HD).
    • Clinical and instrumental investigations, including electrocardiography (ECG) and echocardiography, were employed for patient assessment.

    Main Results:

    • In HCMP patients, the AA genotype of the ATR1 gene was associated with a higher incidence of arterial hypertension, left ventricular outflow tract obstruction, and more severe heart failure compared to the AC genotype.
    • In patients with combined HD and LVH, the AA genotype of the ATR1 gene correlated with more pronounced LVH compared to the AC and CC genotypes.
    • These findings suggest a genotype-dependent influence of the ATR1 gene on the clinical phenotype of LVH.

    Conclusions:

    • The A/C polymorphism of the ATR1 gene plays a role in modulating the clinical picture and severity of left ventricular hypertrophy.
    • The AA genotype of the ATR1 gene may represent a genetic marker for increased risk of arterial hypertension, outflow tract obstruction, and heart failure in HCMP.
    • Further research is warranted to explore the therapeutic implications of these genetic findings in managing LVH associated with HCMP and HD.

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