Browsing by Author "Kahveci, Gokhan"

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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.
CONTRIBUTION OF SARCOMERIC GENE VARIANTS TO THE PREDICTION OF SUDDEN CARDIAC DEATH RISK IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
(ISTANBUL UNIV, FAC MEDICINE, PUBL OFF, 2020-01-01) Bayrak, Evrim Komurcu; Geyik, Filiz Guclu; Kahveci, Gokhan; Bayrak, Fatih
Objective: Hypertrophic cardiomyopathy (HCM) is one of sudden cardiac death (SCD) causes. This study aimed to identify high-risk pathogenic variants for SCD in the three sarcomeric genes with the most frequent mutations in HCM. Material and Method: The study included 12 adult HCM index cases with a family history of SCD and/or HCM, and 31 of their family members. All the participants were evaluated with detailed cardiac examinations. The exonic regions of the MYH7, MYBPC3 and TNNT2 genes were analysed using CorTAG HCM1 resequencing arrays. Results: Six pathogenic variants causing amino acid substitutions were found in 8 of the index cases with HCM. Five of them were identified as previously defined missense variants of Val698Ala, Arg719Trp, Met822Leu and Arg663Cys (in three cases) in the MYH7 gene, and Arg102Trp in the TNNT2 gene. For the first time in an HCM family with a history of late-onset SCD, Tyr525Asn and c.{*}27-21G> A variants in the MYBPC3 gene were identified as compound heterozygous. These variants were not present in control subjects (n=777) from the Turkish population. Conclusion: In this study, novel variants in the MYBPC3 gene were identified in an HCM family with SCD history. However, there was no clear association between pathogenic variants and the risk of SCD.
The other slip of the coin in primary tricuspid valve disease: The incremental value of 3D echocardiography
(TURKISH SOC CARDIOLOGY, 2018-01-01) Sari, Munevver; Kahveci, Gokhan; Bayrak, Duhan Fatih; Uslu, Abdulkadir; Pala, Selcuk
Primary tricuspid valve regurgitation may be encountered in daily practice as a result of multiple etiologies. Described herein are the cases of 2 patients with severe primary tricuspid regurgitation. The underlying mechanism was posterior leaflet prolapse due to spontaneous chordae rupture in 1 case, and iatrogenic posterior leaflet tissue loss during removal of a permanent pacemaker in the other. Transthoracic and transesophageal echocardiography, which permit assessment of the tricuspid valve with multilevel imaging, are the techniques of choice for accurate detection and understanding of the etiology, the severity of valve regurgitation, and the determination of treatment options, in addition to providing assistance with timing and guidance during intervention. Three-dimensional echocardiography offers the ability to visualize the entire tricuspid valve and to identify which leaflets are affected by the pathology.