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.

Comparison of quantitative and qualitative coronary angiography: computer versus the eye.

OBJECTIVE: Since visual estimation of the extent of vessel stenosis may vary between operators, we aimed in this study to investigate both inter-observer variability and consistency between the estimation of an operator and quantitative coronary analysis (QCA) measurements. METHODS: A total of 147 elective percutaneous coronary intervention patients with 155 lesions between them were consecutively enrolled in the study. These patients were evaluated for visual estimation of lesion severity by three operators. The lesions were also evaluated with QCA by an operator who was blinded to the visual assessments. Reference diameter, minimal lumen diameter, percentage diameter of stenosis, percentage area of stenosis and diameter of lesion length from the proximal lesion-free segment to the distal lesion-free segment were calculated using a computerised QCA software program. RESULTS: There was a moderate degree of concordance in the categories 70-89% (κ: 0.406) and 90-99% (κ: 0.5813), whereas in the categories < 50% and 50-69% there was a low degree of concordance between the visual operators (κ: 0.323 and κ: 0.261, respectively). There was a low to moderate grade of concordance between visual estimation and percentage area of stenosis by QCA (κ: 0.30) but there was no concordance between visual estimation and percentage diameter of stenosis by QCA (κ: -0.061). Also, there was a statistically significant difference between QCA parameters of percentage diameter of stenosis and percentage area of stenosis (58.4 ± 14.5 vs 80.6 ± 11.2 %, p < 0.001). CONCLUSIONS: Visual estimation may overestimate a coronary lesion and may lead to unnecessary coronary intervention. There was low concordance in the categories < 50% and 50-69% between the visual operators. Percentage area of stenosis by QCA had a low to moderate grade of concordance with visual estimation. Percentage area of stenosis by QCA more closely reflected the visual estimation of lesion severity than percentage diameter of stenosis.

The effects of air pollution and weather conditions on the incidence of acute myocardial infarction.

OBJECTIVE: In this retrospective study, we investigated the association between air pollution and weather conditions with the incidence of acute myocardial infarction (AMI) in the city of Kutahya. METHODS: A total of 402 patients who were admitted with acute ST segment elevation MI and non-ST segment elevation MI were included in the study in 1 year. Daily maximum, minimum, and mean ambient temperature and mean barometric pressure data were obtained from the Kutahya Meteorology Department. Daily air pollution data were obtained from the Web site of National Air Quality Observation Network (http://www.havaizleme.gov.tr). RESULTS: Increase in ambient air temperature in the day of MI and 2 days before the day of MI according to their control days was correlated with increase in number of MI cases. When we grouped the patients according to ages as 30-54, 55-65, and >65 years, we found that there was a relation between sulfur dioxide (SO2) and the occurrence of AMI for the age group of 30-54 for the same day (D0) (P<.017). The number of AMIs was the lowest in fall season, whereas the number of AMIs was the highest in winter season. CONCLUSION: There was no statistically significant association between the particulates with diameter b=10 µm, SO2 concentrations, air pressure, and the risk of AMI, but there was statistically significant relation between occurrence of MI and SO2 for the patients under age of 55 years. The number of AMIs was the lowest in fall season, whereas the number of AMIs was the highest in winter season.

Evaluating the Role of Routine Prone Acquisition on Visual Evaluation of SPECT Images.

UNLABELLED: Attenuation artifacts reduce our ability to evaluate perfusion of affected myocardial segments. The aim of this study was to evaluate the impact of routine prone-position image evaluation within a stepwise visual interpretation of myocardial perfusion studies. METHODS: We have included 279 consecutive patients who were referred for evaluation of myocardial ischemia. All patients underwent routine electrocardiogram-gated supine SPECT imaging and non-electrocardiogram-gated prone-position SPECT imaging. Three nuclear medicine physicians interpreted the images in the following order: polar maps, supine images, raw images, motion-frozen gated images, and prone images, using a scale of 0-4. Segments with perfusion abnormalities were noted. RESULTS: All physicians reported lower proportions of equivocal evaluations after evaluating prone images (18.3% vs. 4.7%, 19% vs. 11.1%, and 12.2% vs. 6.1%, P < 0.0001, P = 0.0077, and P = 0.0125, respectively). At the prone stage, normalcy rates were 89%, 87%, and 91%. Two physicians had significantly increased normalcy rates at the prone stage (72%-89%, P = 0.039, and 66%-87%, P = 0.006). At the prone stage, a decision reversal to normal or probably normal was observed in 40% (29/72), 33% (17/51), and 43% (21/48). In men, apical, mid, and basal inferior walls and in women apical and mid parts of anterior walls were more likely to be attributed to attenuation. The 2 steps that increased normalcy rates for interpreters were the review of raw images and of prone images. CONCLUSION: Routine prone imaging increases interpretive certainty and interobserver agreement and changes the final evaluation in a substantial number of patients and significantly decreases the number of equivocal evaluations.

Atrial fibrillation after percutaneous coronary intervention: predictive importance of clinical, angiographic features and P-wave dispersion.

Atrial fibrillation (AF) may occur during or after percutaneous coronary interventions (PCI). The purpose of the study was to determine the clinical, angiographic and electrophysiological predictors of AF after PCI. 225 patients undergoing PCI (mean age of 65 +/- 11 years) who had sinus rhythm (SR) before balloon inflation were taken to study. Of these 22 developed AF in catheterization laboratory after balloon inflation or in 24 h following PCI (AF group), 203 did not (SR group). The patients in AF group were older (67 +/- 9 vs. 63 +/- 8 years, p < 0.05) and their ventricular ejection fraction was lower than SR group (56 +/- 5 vs. 45 +/- 7%, p < 0.05). The P-wave dispersion was significantly higher in AF group than SR group (53 +/- 8 vs. 29 +/- 10 ms, p < 0.001). For the patients with ST elevation myocardial infarction, the time from the onset of symptoms to balloon inflation was 3.7 +/- 1.7 h in SR group. It was longer in AF group (4.1 +/- 1.8 h, p < 0.05). TIMI perfusion grades 2 and 3 were achieved in 23 of 27 patients in SR group, and 5 of 8 patients in AF group. Multivessel disease was documented in 93 of the patients in SR group, and 12 in AF group. Clinical reperfusion was thought to be established in 20 in SR group, and 4 in AF group. In conclusion, our results show the importance of clinical factors, angiographic results and P-wave analysis in prediction of AF following PCI.