Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Türkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower.

Aim Coronary artery tortuosity is a common coronary angiographic finding. This tortuosity can cause myocardial ischemia even in the absence of significant coronary artery stenosis. Our aim was to compare the demographic, clinical and echocardiographic features of patients with chronic coronary syndrome (CCS) and with and without coronary artery tortuosity. Material and methods 361 patients who underwent elective coronary angiography (CAG) due to CCS were included in the study. These patients divided into two groups, those with coronary tortuosity (Group 1) and those without (Group 2). Univariable and multivariable logistic regression analysis was performed to identify predictors associated with coronary artery tortuosity. Results   The mean age of the 361 CCS patients (44 % female; 56 % male) was 56.7±11.5 years. In the univariable regression analysis, age, female sex, hypertension (HT), PR interval, QTc interval, ST / T segment changes, left ventricle diastolic dysfunction (LVDD), left ventricle hypertrophia (LVH) were identified as predictors of coronary tortuosity. In the multivariable regression analysis, age (OR: 1.059; 95 %CI: 1.032–1.087, p<0.001) and hypertension (OR: 0.484; 95 %CI: 0.278–0.843, p=0.01) were identified as independent predictors of coronary tortuosity. Conclusion Coronary artery tortuosity is an angiographic finding that develops as a result of adaptive mechanisms in the heart and can cause myocardial ischemia. Predictors of coronary artery tortuosity in patients with CCS were long PR and QTc intervals, ST / T segment changes, LVH, LVDD, advanced age, and female gender. Evaluation of these demographic, electrocardiographic, and echocardiographic data may help clinicans to anticipate coronary artery tortuosity in patients with CCS and to be precautious for PCI.

Intravascular imaging (IVI) was introduced 35 years ago to assess coronary artery pathology and plaque vulnerability. However, from its first applications it became apparent that it can also be useful in percutaneous coronary intervention (PCI) planning and optimizing PCI results. In the early days of PCI, IVI was used to examine the efficacy of emerging endovascular devices and the vessel wall response to therapy, while in the drug-eluting stent (DES) era, IVI was used to guide DES implantation and assess final results post-intervention. The first studies assessing the role of IVI in guiding PCI with DES have failed to demonstrate a prognostic benefit for the use of IVI; however, more recent large-scale randomized trials have underscored its value in this setting. IVI, with its high resolution, allows optimal stent sizing, prompt identification and correction of common causes of stent failure, and it has been shown that it improves outcomes in complex procedures. This review summarizes the evidence supporting the role of IVI in PCI planning in DES era, synopsizes the studies that have highlighted the value of IVI in predicting stent failure, discusses the limitations of the first randomized trials that failed to demonstrate a prognostic benefit from its use, and presents the results of the more recent large-scale outcome studies that underscored its role in complex PCI planning.