Relationship between Cardiovascular Disease Risk and Neck Circumference Shown in the Systematic Coronary Risk Estimation (SCORE) Risk Model

Introduction: The most important way to reduce CVD-related mortality is to apply appropriate treatment according to the risk status of the patients. For this purpose, the SCORE risk model is used in Europe. In addition to these risk models, some anthropometric measurements are known to be associated with CVD risk and risk factors. Objectives: This study aimed to investigate the association of these anthropometric measurements, especially neck circumference (NC), with the SCORE risk chart. Methods: This was planned as a cross-sectional study. The study population were classified according to their SCORE risk values. The relationship of NC and other anthropometric measurements with the total cardiovascular risk indicated by the SCORE risk was investigated. Results: A total of 232 patients were included in the study. The patients participating in the study were analysed in four groups according to the SCORE ten-year total cardiovascular mortality risk. As a result, the NC was statistically significantly lower among the SCORE low and moderate risk group than all other SCORE risk groups (low-high and very high 36(3)–38(4) (IQR) p: 0.026, 36(3)–39(4) (IQR) p < 0.001, 36(3)–40(4) (IQR) p < 0.001), (moderate-high and very high 38(4) vs. 39(4) (IQR) p: 0.02, 38(4) vs. 40(4) (IQR) p < 0.001, 39(4) vs. 40(4) (IQR) p > 0.05). NC was found to have the strongest correlation with SCORE than the other anthropometric measurements. Conclusions: Neck circumference correlates strongly with the SCORE risk model which shows the ten-year cardiovascular mortality risk and can be used in clinical practice to predict CVD risk

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye

Background: 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. Methods: 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. Results: 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. Conclusions: 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