Impact of Genetic Defects on Coronary Atherosclerosis among Turkish Cypriots.

BACKGROUND: The distribution of gene variants in the Turkish Cypriot population with coronary artery disease has not been investigated. In this study, we sought to research different genetic variants in the susceptibility to coronary artery disease and to identify possible associations between various clinical parameters and the genes involved in blood coagulation as well as glucose and lipid metabolism among the Turkish Cypriots and compared the results with the respective Turkish patients from Turkey. Methods: A total of 187 individuals with coronary artery disease, namely 87 Turkish Cypriot individuals from Northern Cyprus, and 100 Turkish patients from Turkey, were investigated. The presence of CAD was documented with coronary angiography. The genetic susceptibility to coronary artery disease in the cohorts was studied using the variants FV Leiden (G1691A), Factor V R2 mutation (FVR2)(H1299R), PTH (G20210A), FXIII (V34L), ß-Fibrinogen (-455 G>A), PAI-1 (4G/5G), HPA1 (a/b), MTHFR [C677T] and [A1298C], ACE (I/D), Apo B (R3500Q), and Apo E, in addition to the well-known risk factors associated with coronary artery disease. RESULTS: Age, male sex, diabetes mellitus, hyperlipidemia, triglycerides, HDL, and triglyceride/HDL ratio were significantly associated with (P < .05); LDL (P = .05) and total cholesterol (P = .08) was marginally associated with coronary artery disease in the Turkish Cypriot population. The mutations in the MTHFR [C677T] gene variant were marginally higher in the Turkish Cypriot cohort when compared with the Turkish patients from Turkey (P = .06). No significant direct association of any of the gene variants with coronary artery disease in the Turkish Cypriot cohort could be defined. Several of the genetic variants were associated indirectly with the risk factors for coronary artery disease in Turkish Cypriots. MTHFR [A1298C] was found to be marginally associated with low HDL cholesterol (P = .08). MTHFR [C677] wild-type allele was significantly associated with a decreased rate of high LDL cholesterol (P < .05). The HPA-1 a/b variant was significantly associated with an increased rate of high total cholesterol levels (P < .05). Conclusion: Turkish Cypriot patients with coronary artery disease may be more affected by secondary factors, such as diabetes, hypertension, obesity, and sedentary life style when compared with genetic factors, which may be responsible for coronary artery disease.

[Transcatheter aortic valve implantation: the first applications and early results in Turkey]. / Transkateter aort kapak yerlestirme: Türkiye'deki ilk uygulamalar ve erken sonuçlar.

OBJECTIVES: The objective of this study was to evaluate the first applications and results of transcatheter aortic valve implantation (TAVI) in Turkey, which is a new technology for the treatment of aortic valve stenosis. STUDY DESIGN: We performed TAVI in eight severely symptomatic patients (5 women, 3 men; mean age 81.6 ± 6.7 years; range 71 to 95 years) between May 1 and December 31, 2009. All the patients had severe aortic stenosis (mean valve area 0.6 cm², systolic peak/mean gradients 80.5 ± 22.1/50.0 ± 16.1 mmHg). Two patients had severe coronary artery disease that required intervention during TAVI. All the patients presented a high surgical risk (EuroSCORE 31.1 ± 9.8 and STS score 12.8 ± 7.9). The Edwards Sapien bioprosthetic valve was implanted through the transfemoral approach in seven patients, and transapical approach in one patient. RESULTS: All prosthetic valves were of appropriate size, were implanted in appropriate locations, and functioned perfectly. Two patients with severe coronary stenosis underwent successful simultaneous percutaneous coronary intervention before TAVI. Following TAVI, the mean aortic valve area increased to 1.5 ± 0.1 cm² (p < 0.01), and systolic/mean gradients decreased to 27.6 ± 9.6/14.6 ± 5.8 mmHg (p < 0.01). One patient underwent permanent pacemaker implantation due to persistent atrioventricular block, and two patients had transient atrioventricular block. Two patients died; one on the first day following transapical implantation, and the other after six months of implantation. The mean NYHA functional class decreased from preoperative 3.8 ± 0.3, to 1.1 ± 0.3 after a mean follow-up of 3.5 ± 2.5 months (range 1 to 8 months) (p < 0.01). CONCLUSION: Early results of TAVI are successful in patients with inoperable aortic valve stenosis due to high surgical risk. The results of randomized studies with longer follow-up will clarify widespread use of this technique.