Evaluation of potential links between phenotypic features and genetic variants in left ventricular outflow tract obstruction in hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging.

This study aimed to identify the phenotypic features contributing to the development of left ventricular outflow tract obstruction (LVOTO) in patients with hypertrophic cardiomyopathy (HCM) and to evaluate the genotype‒phenotype relationship. This cross-sectional study included 96 patients diagnosed with HCM (mean age: 56.9 ± 13.5 years, 32.3% female). The patients were divided into hypertrophic nonobstructive cardiomyopathy (HNCM; n = 60) and hypertrophic obstructive cardiomyopathy (HOCM; n = 36) groups. All patients underwent CMR. Patients (n = 77) who had previously provided formal approval underwent a genetic examination that included 18 genes. The anterior mitral leaflet (AML) length/LVOT diameter ratio, posterior mitral leaflet (PML) length/LVOT diameter ratio, and anterolateral papillary muscle (AL-PM) mobility were associated with LVOTO, independent of the basal IVS thickness, abnormal chordal attachment, and bifid PM. An AML length/LVOT diameter ratio of ≥ 2.30, a PML length/LVOT diameter ratio of ≥ 1.83, and an AL-PM mobility of ≥ 57.7% were predictors of LVOTO, with good sensitivity and specificity. Positive variants (VUS, LP, and P) were detected in 37.7% (29 of 77) of the patients who underwent genetic testing. The LP/P variant was detected in 20.8% (16 of 77) of patients. Three groups (variant-negative, VUS, and LP/P groups) had significant differences in the LVOT diameter (median 14, 12, and 10 mm, respectively; p = 0.021), AML length (mean 25.3, 26.5, and 27.5 mm, respectively; p = 0.029), AML length/LVOT diameter ratio (median 1.74, 2.33, and 2.85, respectively; p = 0.006), PML length/LVOT diameter ratio (median 1.29, 1.82, and 2.10, respectively; p = 0.045), and abnormal chordal attachment (6.3%, not observed, and 31.3%, respectively; p = 0.009). The AML length/LVOT diameter ratio, PML length/LVOT diameter ratio, and AL-PM mobility were associated with LVOTO. In addition, genetic testing results may provide information regarding the phenotypic expression of patients with HCM.

Heart Failure Awareness Survey in a Turkish Population: HFAS-TR.

OBJECTIVE: Heart failure is a leading cause of death and the most common diagnosis leading to hospitalization. Its awareness is lower than that of other cardiovascular diseases, both in the general population and among patients with heart failure (HF). This study aimed to establish the current level of knowledge about HF in patients with HF with reduced ejection fraction (HFrEF) and mildly reduced ejection fraction (HFmrEF) in Türkiye. METHODS: This questionnaire-based survey study is multicenter, conducted across 34 centers from December 2021 to July 2022. We performed a survey consisting of two sets of questions focusing on individual characteristics of the patients and HF-related knowledge. RESULTS: The study included a total of 2,307 outpatient HF patients, comprising 70.5% males and 29.5% females with a mean age of 64.58 ± 13 (56-74) years and a mean body mass index value of 32.5 ± 10 kg/m2. HFrEF and HFmrEF were determined in 74.7% and 25.3% of patients, respectively. Thirty percent of the patients were unaware that they had HF. While 28.7% of the patients thought that they had sufficient information about HF, 71.3% believed they lacked adequate knowledge. In the study, 25.2% of the participants identified dyspnea, 22% identified tiredness, and 25.4% identified leg edema as the most common symptoms of HF. Only 27.4% of patients recognized all three typical symptoms of HF. CONCLUSION: We found that the study population's knowledge about HF symptoms and the nature of the disease was poor. Educational and awareness activities are necessary to optimize outcomes and benefits.

Short- and Mid-Term Outcomes of Early Alcohol Septal Ablation Therapy for Patients with Mildly Symptomatic Hypertrophic Obstructive Cardiomyopathy: A Tertiary Center Experience.

Background: Left ventricular outflow tract obstruction (LVOTO) impairs survival and diminishes quality of life in patients with hypertrophic obstructive cardiomyopathy (HOCM). In this study, we aimed to investigate the safety and the efficacy of earlier alcohol septal ablation (ASA) in patients with HOCM. Methods: A total of 47 patients with mildly symptomatic HOCM (NYHA II) and having poor functional capacity despite maximal tolerated medical therapy were included. Results: The mean age of the patients was 55 ± 14, and 57% of the patients were male. All clinical endpoint targets including 30 d mortality (1% vs. 0% p < 0.01), 30 d adverse complications (10% vs. 0% p < 0.01), 30 d complete heart block resulting in need for permanent pacemaker (10% vs. 4.2% p < 0.01), more than moderate residual mitral regurgitation (5% vs. 2.1% p < 0.01), repeat procedure rate (10% vs. 4.2% p < 0.01), improvement of (NYHA) class (90% vs. 95.7% p < 0.01), rest and provoked (LVOT) gradient < 50 mmHg (90% vs. 97.8% p < 0.01) were significantly reached. Conclusions: In patients with mildly symptomatic HOCM (NYHA II), earlier ASA may be performed as an effective and safe procedure in experienced centers.

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.

Cut-off values of 6-min walk test and sit-to-stand test for determining symptom burden in atrial fibrillation.

BACKGROUND: Since symptomatology is a major predictor of quality of life and an endpoint for the management of atrial fibrillation (AF), practical approaches for objectively interpreting symptom burden and functional impairment are needed. AIMS: We aimed to provide cut-off values for two frequently used field tests to be able to objectively interpret symptom burden in atrial fibrillation. METHODS: One hundred twenty-five patients with AF were evaluated with European Heart Rhythm Association (EHRA) score, 6-min walk test (6MWT), 30 s sit-to-stand test (30 s-STST), Short-Form 36 (SF-36), International Physical Activity Questionnaire-Short Form (IPAQ-SF), and spirometry. Patients with EHRA 1 were classified as "asymptomatic", and those with EHRA 2-4 as "symptomatic". Cut-off values of 6MWT and 30 s-STST for discriminating between these patients were calculated. RESULTS: The optimal cut-off value was "450 m" for 6MWT (sensitivity: 0.71; specificity of 0.79) and "11 repetitions" for 30 s-STST (sensitivity 0.77; specificity of 0.70). Area under ROC curve was 0.75 for both tests (p < 0.001). Discriminative properties of the two tests were similar, and they were significantly correlated (r = 0.58; p < 0.001). Subgroup analysis revealed patients below cut-off values also had worse outcomes in SF-36, IPAQ-SF, and spirometry. CONCLUSIONS: In patients with AF, walking < 450 m in 6MWT or performing < 11 repetitions in 30 s-STST indicates increased symptom burden, as well as impaired exercise capacity, quality of life, physical activity participation, and pulmonary function. These cut-off values may help identifying patients who may require adjustments in their routine treatment or who may benefit from additional rehabilitative approaches.

Knowledge and experience of cardiopulmonary resuscitation among cardiologists in clinical practice: A multicenter cross-sectional study.

OBJECTIVE: This study aimed to investigate the theoretical knowledge and clinical experience of cardiopulmonary resuscitation (CPR) among Turkish cardiologists according to the recommendations of the 2015 European Resuscitation Council (ERC) guidelines. METHODS: A total of 120 cardiologists from 14 different medical centers (six university and eight research-education hospitals) in Istanbul were included in the study. The questionnaire consisting of 29 open-ended and multiple choice questions on CPR was used and validated based on the ERC guidelines published in 2015. The percentage of correct answers was calculated for each participant. RESULTS: Of the 120 cardiologists included in this study, 108 (90%) accepted the participation, and the median percentage of correct answers for theoretical questions was 53% (38-72). The percentage of correct answers for interventional cardiologists (48%, n=52) was significantly higher [60% (50-66) vs. 46% (38-52), p<0.001]. Regarding the type of medical centers, no statictical difference was found in terms of theoretical knowledge on CPR [57% (50-72) university hospitals vs. 49% (41-57) research-education hospitals, p=0.160). Peri-arrest transthoracic echocardiography was used in 71% of cases. The ratio of participants who had received an advanced cardiac life support course in the preceding year was only 19% (n=20), and those participants had a significantly higher score regarding the CPR theoretical knowledge questions [68% (54-70) vs. 46% (38-51), p<0.001]. CONCLUSION: The theoretical knowledge of cardiologists on CPR is not satisfactory according to the 2015 ERC guidelines. An increased frequency of CPR training courses may improve this result.

A descriptive analysis of abstracts presented at the Turkish National Cardiology Congresses between 2011 and 2015.

OBJECTIVE: The aim of this study was to investigate the scientific publication performance of the abstracts presented at the annual Turkish National Cardiology Congress (TNCC) between 2011 and 2015 and to analyze the variables associated with publication. METHODS: The accepted abstracts of five congresses (2011-2015) were screened using the title and names of all authors in English via PubMed and Google Scholar databases. The parameters recorded included presentation type, publication rate, time to publication, affiliated institution, journal name and average impact factor, and average citation number per year for each publication. RESULTS: A total of 2897 abstracts (966 oral presentations and 1931 poster presentations) were accepted in five meetings and 23.4% (n=680) of these were published in national or international peer-reviewed journals. Of the published articles, 32.6% (n=222) were oral presentations and 67.4% (n=458) were poster presentations. The mean time to publication of oral and poster presentations were similar [9 (0-58) vs. 8 (0-62) months, p = 0.150]. According to the type of institution, university hospitals had the highest ratio of publication (58.6%) (p<0.001). All publications were published in 148 journals from 37 different countries. The average citation number of publications was significantly higher than the average impact factor of the journals [1.4 (0-30.1) vs. 1.29 (0.11-19.8), p<0.001]. CONCLUSION: Compared with other national-based literature in other medical fields, the overall publication rate was found to be similar while the time to publication was shorter. The significant difference between citation number and impact factor may be interpreted as positive indicator in terms of high level scientific value for cardiology publications presented in the TNCC.

Impact of continuation of metformin prior to elective coronary angiography on acute contrast nephropathy in patients with normal or mildly impaired renal functions.

OBJECTIVE: Discontinuation of metformin treatment in patients scheduled for elective coronary angiography (CAG) is controversial because of post-procedural risks including acute contrast-induced nephropathy (CIN) and lactic acidosis (LA). This study aims to discuss the safety of continuing metformin treatment in patients undergoing elective CAG with normal or mildly impaired renal functions. METHODS: Our study was designed as a single-centered, randomized, and observational study including 268 patients undergoing elective CAG with an estimated glomerular filtration rate of >60 mL/min/1.73 m2. Of these patients, 134 continued metformin treatment during angiography, whereas 134 discontinued it 24 h before the procedure. CIN was defined as either a 25% relative increase in serum creatinine levels from the baseline or a 0.5 mg/dL increase in the absolute value that measured 48 h after CAG. Logistic regression analysis was performed to identify independent predictors of CIN and LA after CAG. RESULTS: Both groups were comparable in terms of demographics and laboratory values. CIN at 48 h was 8% (11/134) in the metformin continued group and 6% (8/134) in the metformin discontinued group (p=0.265). Patients in neither of the groups developed metformin-induced LA. Based on multiple regression analysis, the ejection fraction [p=0.029, OR: 0.760; 95% CI (0.590-0.970)] and contrast volume [p=0.016, OR: 0.022 95% CI (0.010-0.490)] were independent predictors of CIN. CONCLUSION: Patients scheduled for elective CAG with normal or mildly impaired renal functions and preserved left ventricular ejection fraction (>40%) may safely continue metformin treatment.

Relationship between myocardial performance index and severity of coronary artery disease in patients with non-ST-segment elevation acute coronary syndrome.

OBJECTIVES: We aimed to investigate the relationship between myocardial performance index (MPI) and severity of coronary artery disease, as assessed by the Gensini score (GS), in patients with non-ST-segment elevation myocardial infarction (NSTEMI). METHODS: Ninety patients with an initial diagnosis of NSTEMI were enrolled in our study. They were divided into tertiles according to the GS: low GS < 19; mid GS > 19 and ≤ 96; and high GS > 96. RESULTS: The low-, mid- and high-GS groups included 24, 38 and 28 patients, respectively. Clinical features such as gender distribution; body mass index (BMI); prevalence of diabetes mellitus, hypertension and hyperlipidaemia; and smoking status were similar in the three groups. MPI and isovolumic relaxation time were significantly higher in the high-GS group than in the low- and mid-GS groups (p < 0.001 and p = 0.005, respectively). Furthermore, the high-GS group had a significantly lower ejection fraction and ejection time (p = 0.01 and p < 0.001, respectively). MPI was positively correlated with the GS (r = 0.47, p < 0.001), and multivariate regression analysis showed that MPI was an independent predictor of the GS (ß = 0.358, p < 0.001). CONCLUSIONS: Patients with NSTEMI who fall within the high-risk group may be identified by means of a simple MPI measurement.

A Rare Case of Type IV Dual Left Anterior Descending Coronary Artery.

Coronary artery anomalies are usually asymptomatic and associated with other cardiac malformations. Dual left anterior descending coronary artery (LAD) is an uncommon congenital anomaly with four subtypes. This anomaly has been described in the angiographic literature and dual LAD types depending on the origin of major septal and diagonal branches and course within the anterior interventricular sulcus. Type IV expresses the anomaly of a rudimentary LAD artery ending in the mid-portion of the anterior interventricular sulcus, and the presence of other LAD originating from the right coronary artery and continuing to the anterior interventricular sulcus. We report the rare case of a patient with the type IV dual left anterior descending coronary artery.

Isolated Right Ventricular Infarction Mimicking Anterior ST-Segment Elevation.

Acute coronary syndromes in patients with presence of ST-segment elevation in the anterior precordial leads indicates left anterior descending coronary artery occlusion. However, anterior ST-segment elevation has also been described in right ventricular myocardial infarction and is thought to be due to right coronary artery (RCA) occlusion. We present a rare case of isolated RVMI presenting with anterior ST-segment elevation due to proximal occlusion of a right coronary artery that was treated by primary coronary angioplasty. Primary coronary angioplasty and stenting of this artery was performed resulting in resolution of the chest pain and ST- segment elevation.

Mobitz Type 2 AV Block Dissolved With Contrast Injection.

There are many cases in the literature concerning the occurence of atrioventricular block in acute myocardial infarction. The prevelance and management of AV block in the setting of chronic myocardial ischemia remains unclear. Our case presented with stable angina pectoris. Treadmill test revealed Mobitz Type 2 AV block which disappeared with contrast injection and re-occured after injection during PCI.

Heart rate turbulence in patients with stable coronary artery disease and its relationship with the severity of the disease.

OBJECTIVE: Heart rate turbulence (HRT) indicates the impairment of cardiac autonomic function. With the literature containing insufficient information on HRT in stable coronary artery disease (CAD), this study aimed to investigate the role of HRT in patients with stable CAD. METHODS: The study included 58 patients (mean age: 58.9 ± 10.0 years; 25 male) with documented CAD and demonstrating ventricular premature complexes on Holter monitoring, and a control group of 52 patients (mean age: 55.9 ± 9.3 years; 36 male) with no history of CAD and demonstrating ventricular premature complexes. HRT parameters such as turbulence onset (TO) and slope (TS) were analyzed. Angiographic Gensini score were used to evaluate CAD severity. RESULTS: There was a significant difference in HRT parameters between the 2 groups. TO: 0.47 ± 1.52% vs. -1.61 ± 2.0% (p=0.001) and TS: 4.7 ± 3.0 vs. 6.4 ± 3.7 ms/RR (p=0.009) in patients with CAD and control group respectively. Given also that TO ≥ 0% and TS ≤ 2.5 ms/ RR values are considered abnormal, there was significant difference between the two groups; TO abnormal: 27 patients (46.6%) vs. 7 patients (13.5%), p=0.001, and TS abnormal: 15 patients (25.9%) vs. 4 patients (7.7%), (p=0.004) in CAD patients and control group respectively. A positive correlation was detected between TO and Gensini score (r=0.282, p=0.001) and a negative correlation detected between TS and Gensini score (r=-0.287, p=0.001). CONCLUSION: The study demonstrated that HRT variables are impaired in patients with stable CAD when compared to those in the control group, and that these variables also correlate with severity of CAD.

Venous claudication in Behçet's disease.

OBJECTIVE: We have previously shown that venous claudication is significantly more common among patients with Behçet's disease (BD) and had proposed that this was a "venous claudication" because it was specifically more common among men with lower extremity venous thrombosis (LEVT). With this study, we reassessed the presence of claudication prospectively by a questionnaire and a treadmill exercise. METHODS: We studied all men: 61 BD patients with LEVT, 40 BD patients without vascular involvement, and 56 healthy controls. Venous claudication was assessed by a standardized questionnaire. In addition, patients were asked to walk on a treadmill for 10 minutes. Patients who experienced symptoms consistent with venous claudication but still able to walk and those who had to give up the treadmill exercise were noted. Ankle-brachial pressure indices measured before and after the treadmill test did not indicate any peripheral arterial disease. RESULTS: Twenty-one BD patients with LEVT (34%), two BD patients without vascular involvement (5%), and none of the healthy controls described venous claudication when assessed with the questionnaire (P < .001). There were significantly more patients who described claudication during the treadmill exercise among patients with LEVT (21%) compared with those with no vascular disease (8%) and healthy controls (2%) (P = .002). Finally, only those with LEVT (6 of 61) had to stop the treadmill challenge because of claudication. CONCLUSIONS: Venous claudication is a severe and frequent symptom, being present in up to one third of BD patients with LEVT. It impairs walking capacity in 10% of these patients.

The effect of oxidative stress related with ischemia-reperfusion damage on the pathogenesis of atrial fibrillation developing after coronary artery bypass graft surgery.

OBJECTIVES: We aimed to investigate the role of oxidative stress related with ischemia- reperfusion damage on the pathogenesis of atrial fibrillation (AF) developing after coronary artery bypass graft (CABG) surgery. STUDY DESIGN: In our prospective, single-center study, 118 patients who underwent elective isolated on-pump CABG surgery were included. Patients were divided into two groups according to the development of postoperative atrial fibrillation (POAF) as Group 1: Patients who developed POAF, and Group 2: Patients who remained in sinus rhythm. In addition to preoperative demographic, laboratory, echocardiographic, intraoperative, and postoperative clinical characteristics, levels of plasma total oxidative status (TOS) after placement and removal of aortic cross clamp (ACC) were compared between the two groups. Predictors of POAF were also investigated by multivariate logistic regression analysis. RESULTS: A comparison of preoperative demographic, laboratory, echocardiographic, and postoperative clinical characteristics between the two groups showed that patients in Group 1 were significantly older (65.6±7.20 vs. 59.6±9.07, p<0.001), had a lower hematocrit level (37.5±5.16 vs. 39.7±5.28; p=0.034), and an enlarged left atrium diameter (39±0.45 vs. 3.6±0.48; p=0.006). Changes in plasma TOS levels after placement and removal of ACC were statistically significant in Group 1 [13 (8.6-23), 30 (18.1-47.3); p=0.001 vs. 14 (8.8-22.2), 24 (21.4-42.7); p=0.060]. Length of stay in the intensive care unit [3 (2-14) vs. 2 (1-58); p=0.001] and length of stay in hospital [7 (6-85) vs. 7 (5-58); p=0.001] were prolonged in Group 1. In multivariate logistic regression analysis, aging (odds ratio (OR): 1.088, 95% confidence interval (CI): 1.005-1.177; p=0.036), hematocrit level (OR: 0.718, 95% CI: 0.538-0.958; p=0.025), pump temperature (OR: 1.445, 95% CI: 1.059-1.972; p=0.020), and plasma TOS level (OR: 1.040, 95% CI: 1.020-1.050; p=0.040) were found to be independent predictors of POAF. CONCLUSION: Ischemia-reperfusion damage related with ACC placement may be an important factor on the pathogenesis of POAF. Minimizing the oxidative stress occurring intraoperatively should be targeted for preventing mortality and morbidity due to POAF.

Strain analysis during exercise in patients with asymptomatic atrial septal defect.

BACKGROUND: Right ventricular (RV) deformational mechanics have been demonstrated in patients with atrial septal defect (ASD) at rest, but there is lack of information on their adaptation to exercise. The aim of this study was to assess the adaptability of RV strains and strain rates (SRs) during exercise in patients with clinically asymptomatic ASD. METHODS: Twenty patients with asymptomatic ASD and 11 age-matched controls were included. All the subjects performed incremental ergometry and underwent standard echocardiography and two-dimensional strain (S) and SR imaging by speckle tracking at rest and during submaximal exercise. RESULTS: There was no significant difference in RV strains and SRs at rest between the controls and the ASD patients. There was a significant elevation in the strains and SRs of both groups with exercise. However, the lateral and septal strains increased significantly higher than the controls in patients with ASD. But there was no significant difference in SRs during exercise in both of the groups. CONCLUSIONS: Asymptomatic ASD patients without RV overload, have same strain and SR results at rest with the controls, however, these findings worsen during submaximal exercise, when compared to the controls.

Relationship between increased serum resistin level and severity of coronary artery disease.

Resistin, which is derived from the gene of RSTN, belongs to a family of cysteine-rich secretory proteins called resistin-like molecules (RELMs). Increased serum resistin levels are associated with coronary artery disease (CAD) and the risk of cardiovascular death. Patients (n = 214) with an initial diagnosis of stable angina pectoris, unstable angina pectoris, and myocardial infarction without ST-segment elevation and referred to catheter laboratory for coronary angiography were enrolled in the study. We aimed to investigate the relationship between increased serum resistin level and CAD. The severity of CAD was calculated by the Gensini scoring system. In conclusion, we established a significant correlation between serum resistin levels and CAD (P = .010). Also, serum resistin levels correlated with the Gensini score that represents the severity of CAD angiographically (P = .010).