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Subject: search.filters.subject.hypertrophic cardiomyopathy

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    Association between non-coding polymorphisms of HOPX gene and syncope in hypertrophic cardiomyopathy
    (TURKISH SOC CARDIOLOGY, 2014-01-01) Gulec, Cagri; Abaci, Neslihan; Bayrak, Fatih; Bayrak, Evrim Kourcu; Kahveci, Gokhan; Guven, Celal; Unaltuna, Nihan Erginel
    Objective: Homeodomain Only Protein X (HOPX) is an unusual homeodomain protein which regulates Serum Response Factor (SRF) dependent gene expression. Due to the regulatory role of HOPX on SRF activity and the regulatory role of SRF on cardiac hypertrophy, we aimed to investigate the relationship between HOPX gene variations and hypertrophic cardiomyopathy (HCM). Methods: In this study, designed as a case-control study, we analyzed coding and flanking non-coding regions of the HOPX gene through 67 patients with HCM and 31 healty subjects. Certain regions of the gene were investigated by Single Stranded Conformation Polymorphism (SSCP) and Restriction Fragment Length Polymorphism (RFLP). Statistical analyses of genotypes and their relationship with clinical parameters were performed by chi-square, Kruskal-Wallis and the Fisher's exact test. Results: In 5' Untranslated Region (UTR) and intronic region of the HOPX gene, we found a C>T substitution and an 8-bp insertion/deletion (In/Del) polymorphism, respectively. These two polymorphisms seemed to constitute an haplotype. While the frequency of homozygous genotypes of In/Del and C/T polymorphisms were found significantly lower in the patients with syncope (p=0.014 and p=0.017, respectively), frequency of their heterozygous genotypes were found significantly higher in the patients with syncope (p=0.048 and p=0.030, respectively). Conclusion: Though there was not found any mutation in coding sequence of HOPX gene, two non-coding polymorphisms were found related to syncope in HCM patients. While homozygous status of these polymorphisms was found to be protective against the syncope, their heterozygous status seemed to be a risk factor for syncope in HCM patients. Our results suggest that HOPX may contribute to pathogenesis or manifestation of HCM as a modifier gene.
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    Right ventricular function in hypertrophic cardiomyopathy: A speckle tracking echocardiography study
    (TURKISH SOC CARDIOLOGY, 2015-01-01) Cincin, Altug; Tigen, Kursat; Karaahmet, Tansu; Dundar, Cihan; Gurel, Emre; Bulut, Mustafa; Sunbul, Murat; Basaran, Yelda
    Objective: The aim of this study was to explore right ventricular (RV) mechanical function in patients with hypertrophic cardiomyopathy (HCM) by 2-D speckle tracking echocardiography (2-D-STE). Methods: Forty-three patients with HCM (mean age 48, 17 females) and 40 healthy subjects were consecutively included in this cross-sectional study. The diagnosis of HCM was based on the presence of typical clinical, electrocardiographic (ECG), and echocardiographic features. Patients with LV systolic impairment, significant valvular disease, history of coronary artery disease, hypertension, malignancy, and chronic obstructive pulmonary disease were excluded. Right and left ventricular (LV) function was assessed by tissue Doppler imaging (TDI) and 2-D-STE. Hypertrophic cardiomyopathy patients were divided into two groups according to ACC/ESC guidelines (LVOT gradient below and above 30 mm Hg). Student t-test was used to compare differences between groups. Non-parametric tests (Mann-Whitney U) were used in cases of abnormal distribution. Results: Hypertrophic cardiomyopathy patients had a significantly larger right atrium and RV diameters compared to controls. Mean pulmonary artery pressures (mPAB) were significantly higher in HCM patients (19.01 +/- 13.09 mm Hg vs. 8.40 +/- 4.50 mm Hg
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    The Association between the Extent of Late Gadolinium Enhancement and Diastolic Dysfunction in Hypertrophic Cardiomyopathy
    (THIEME MEDICAL PUBL INC, 2021-01-01) Alis, Deniz; Guler, Arda; Asmakutlu, Ozan; Topel, Cagdas; Sahin, Ahmet A.
    Background Diastolic dysfunction in hypertrophic cardiomyopathy (HCM) patients is a frequent, yet poorly understood phenomenon. Purpose The purpose of this study is to assess the relationship between the myocardial fibrosis and diastolic dysfunction in patients with HCM. Materials and Methods We retrospectively investigated the impact of the myocardial fibrosis, as assessed by the extent of late gadolinium enhancement (LGE-\%) on cardiac magnetic resonance imaging (CMRI), on diastolic dysfunction in 110 patients with HCM. The diastolic dysfunction was evaluated by the left atrial (LA) volume index measured on CMRI and lateral septal E/E ratio calculated on echocardiography. Results : There was a moderate correlation between the LGE-\% and LA volume (r = 0.59, p < 0.0001). The logistic regression model of LGE-\%, mitral regurgitation, and total left ventricular mass that investigated the independent predictors of LA volume identified LGE-\% as the only independent parameter associated with the LA volume index (beta = 0.30, p = 0.003). No correlation was observed between the LGE-\% and E/E' (r = 0.24, p = 0.009). Conclusions Myocardial fibrosis in HCM patients is associated with a chronic diastolic burden as represented by increased LA volume. However, the fibrosis does not influence the E/E' ratio, which is a well-known parameter of ventricular relaxation, restoring forces, and filling pressure.