Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.

Whole-exome DNA sequencing is a rich source of clinically useful information for specialists, patients, and their families, as well as elucidating the genetic basis of monogenic and complex diseases in clinical diagnosis. However, interpreting and reporting variants encompassing exome and genome sequence analysis outcome data are one of the greatest challenges of the genomic era. In this study, we aimed to investigate the frequency and allele frequency spectrum of single nucleotide variants accepted as recessive disease carrier status in Turkish Cypriot exomes. The same sequencing platform and data processing line were used for the analysis of data from 100 Turkish Cypriot whole-exome sequence analysis. Identified variants were classified according to ACMG guidelines, and pathogenic variants were confirmed in other databases such as ClinVar, HGMD, Varsome, etc. Pathogenic variants were detected in 68 genes out of 100 whole-exome sequence data. The carriage rate was the highest in the CYP21A2 gene, causing 21-hydroxylase deficiency (14.70%), 11.76% in the HBB gene causing ß-thalassemia, 10.29% in the BTD gene causing biotinidase deficiency, 8.82% in the CFTR gene causing cystic fibrosis, 8.82% in the RBM8A gene causing thrombocytopenia-absent radius syndrome, which is an ultra-rare disease, and 5.88% in the GAA gene causing glycogen storage disease II. The carriage of pathogenic variants in other genes causing the disease (GJB2, PAH, GALC, CYP11B2, COL4A3, HBA1, etc.) was determined as less than 5.00%. Also, the identified variations in the mentioned gene within the examined population were reported. The most prevalent mutation in North Cyprus was a missense variant (c.1360 C>T, p.Pro454Ser) detected in the CYP21A2 gene (rs6445), and the most frequently seen variant in the HBB gene was c.93-21G>A (rs35004220). We investigated reported pathogenic variants by estimating the lower and upper limits of carrier and population frequencies for autosomal recessive diseases, for which exome sequencing may reveal additional medically relevant information. Determining the lower and upper limits of these frequencies will shed light on preventive medicine practices and governmental actions.

[The association between cardiac mr feature tracking strain and myocardial late gadolinium enhancement in patients with hypertrophic cardiomyopathy].

Aim    Hypertrophic cardiomyopathy (HCM) is a relatively common, heritable cardiomyopathy, and cardiac magnetic resonance (CMR) studies have been performed previously to evaluate different aspects of the disease. However, a comprehensive study, including all four cardiac chambers and analysis of left atrial (LA) function, is missing in the literature. The aim of this retrospective study was to analyze CMR-feature tracking (CMR-FT) strain parameters and atrial function of HCM patients and to investigate the association of these parameters with the amount of myocardial late gadolinium enhancement (LGE).Material and Methods    In this retrospective, cross-sectional study, we analyzed the CMR images (CMRI) of 58 consecutive patients, who from February 2020 to September 2022 were diagnosed with HCM at our tertiary cardiovascular center. Patients who were younger than 18 yrs or who had moderate or severe valvular heart disease, significant coronary artery disease, previous myocardial infarction, suboptimal image quality, or with contraindication to CMR were excluded. CMRI was performed at 1.5 T with a scanner, and all scans were assessed by an experienced cardiologist and then re-assessed by an experienced radiologist. SSFP 2-, 3- and 4­chamber, short axis views were obtained and left ventricular (LV) end-diastolic volume (EDV), end-systolic volume (ESV), ejection fraction (EF), and mass were measured. LGE images were obtained using a PSIR sequence. Native T1 and T2 mapping and post-contrast T1 map sequences were performed and each patient's myocardial extracellular volume (ECV) was calculated. LA volume index (LAVI), LA ejection fraction (LAEF), LA coupling index (LACI) were calculated. The complete CMR analysis of each patient was performed with CVI 42 software (Circle CVi, Calgary, Canada), off-line.Results    The patients were divided into two groups, HCM with LGE (n=37, 64 %) and HCM without LGE (n=21, 36 %). The average patient age in the HCM patients with LGE was 50.8±14 yrs and 47±12.9 yrs in the HCM patients without LGE. Maximum LV wall thickness and basal antero-septum thickness were significantly higher in the HCM with LGE group compared to the HCM without LGE group (14.8±3.5 mm vs 20.3±6.5 mm (p<0.001), 14.2±3.2 mm vs 17.3±6.1 mm (p=0.015), respectively). LGE was 21.9±31.7 g and 15.7±13.4 % in the HCM with LGE group. LA area (22.2±6.1 vs 28.8±11.2 cm2; p=0.015) and LAVI (28.9±10.2 vs 45.6±23.1; p-0.004) were significantly higher in the HCM with LGE group. LACI was doubled in the HCM with LGE group (0.2±0.1 vs 0.4±0.2; p<0.001). LA strain (30.4±13.2 vs 21.3±16.2; p-0.04) and LV strain (15.2±3 vs 12.2±4.5; p=0.012) were significantly decreased in the HCM with LGE group.Conclusion    This study sheds light on the CMR-FT differences between HCM with and without LGE. We found a greater burden of LA volume but significantly lower LA and LV strain in the LGE patients. These findings highlight further the LA and LV remodeling in HCM. Impaired LA function appears to have physiological significance, being associated with greater LGE. While our CMR-FT findings support the progressive nature of HCM, beginning with sarcomere dysfunction to eventual fibrosis, further studies are needed to validate these results in larger cohorts and to evaluate their clinical relevance.

Increased discharge heart rate might be associated with increased short-term mortality after acute coronary syndrome.

BACKGROUND: In acute coronary syndrome (ACS) patients there are mostly studies evaluating prognostic value of admission heart rate. We tried to understand the prognostic value of discharge heart rate in a spectrum of ACS patients. METHODS: A total of 473 consecutive ACS patients were included in the study. Forty-three (9.1%) of them were unstable angina pectoris, 268 (56.7%) were non-ST elevation myocardial infarction and 162 (34.2%) of them were ST elevation myocardial infarction patients. Discharge heart rates of the patients were recorded and the patients were followed-up for 1 year. The primary end-point was all-cause mortality. RESULTS: The mean age of the patients was 64 ± 12. The patients were divided into three subgroups according to discharge heart rates (<78, 78-89, ≥90 beats per minute). Patients with a higher discharge heart rate had higher serum troponin, glucose levels and higher admission heart rates, had lower ejection fraction values and had acute heart failure complication more frequently than the patients with a lower discharge heart rate. A total of 72(16%) patients died during 1 year follow-up. In multivariate logistic regression analysis, an increased discharge heart rate was independently associated with 1-month mortality after ACS, but it was not independently associated with 6-month or 1-year mortality after ACS. Every 1 bpm increase in discharge heart rate resulted in a significant increased risk of 8.2% in 1-month all-cause mortality. CONCLUSION: Increased heart rate at discharge is an independent predictor of 1-month mortality in ACS patients. This relationship disappears after 1-month through 1-year follow-up.

Percutaneous closure of a paravalvular leak from a prosthetic mitral valve dehiscence in a young high-risk patient: case report.

Background: Paravalvular leak (PVL) is a common, serious complication related with prosthetic valve replacement. Although surgical closure reoperation is the choice of treatment, percutaneous device closure is a good alternative with good results in patients with very high surgical risk. Case summary: In this case report, we present the percutaneous closure of PVL of mitral valve replacement (MVR), in a patient with cardiogenic shock who failed conservative medical treatment and was deemed inoperable due to recurrent operations. Successful closure of the PVL with the use of the four consecutive PVL closure devices was performed under general anaesthesia with guidance of 2D and 3D transoesophageal echocardiography. The procedure was performed with no complications and the patient has remained asymptomatic after 10 months following the PVL closure procedure with marked improvement in her NYHA class and echocardiographic values. Discussion: Percutaneous PVL closure is a very challenging and high clinical skills requiring procedure, but has a good success and low complication rate in high-risk patients. It is not a standard procedure and the type and size of device should be tailored for each patient with a good 2D and 3D echocardiographic guidance.

Comparison of IQOS (heated tobacco) and cigarette smoking on cardiac functions by two-dimensional speckle tracking echocardiography.

AIMS: IQOS is a novel tobacco product claimed to be safer than conventional cigarette smoking due to the heat-not-burn system. This study aimed to evaluate the acute effects of IQOS smoking on myocardial systolic and diastolic functions and also compare the acute impacts of IQOS with cigarette smoking. METHODS: In this prospective study, twenty-seven healthy participants who were using IQOS were included. Transthoracic echocardiography was performed three times for each participant; before smoking any tobacco product (group1), after IQOS smoking (group 2), after cigarette smoking (group3). In addition to conventional echocardiographic measurements, left ventricle (LV) and right ventricle (RV) strain analyses were performed by speckle tracking echocardiography. RESULTS: In comparison with non-smoking status, LV global longitudinal strain (GLS) decreased after IQOS and cigarette smoking (-18.9 ± 2.4% in baseline vs. -17.9 ± 2.4% in IQOS vs. -17.9 ± 2.8% in cigarette smoking; p = 0.003, p = 0.001; respectively). LV global circumferential strain (GCS) reduced after IQOS and cigarette smoking (-19.8 ± 4.4% in baseline vs. -18.3 ± 3.9% in IQOS vs. -17.5 ± 3.9% in cigarette smoking; p = 0.005, p < 0.001; respectively). RV GLS was significantly lower in groups smoking IQOS and cigarette (-23.2 ± 4.6% in baseline vs. -21.4 ± 4.1% in IQOS vs. -19.4 ± 4.1% in cigarette smoking; p < 0.001, p = 0.001; respectively). CONCLUSION: IQOS (heat-not-burn) tobacco smoking impairs myocardial systolic and diastolic functions in the acute phase like conventional cigarette smoking. The use of IQOS is rising among young adults in recent years, so further studies should be designed to evaluate the chronic effects of IQOS on myocardial function.

Takotsubo syndrome early after treatment due to non cardiotoxic chemotherapy agents.

Takotsubo syndrome (TTS), acute stress-induced cardiomyopathy, is known to have a dramatic clinical presentation mimicking acute myocardial infarction. Recently developed chemotherapeutic drugs have resulted in improvements in morbidity and mortality in many forms of cancer. However, some chemotherapeutic drugs are cardiotoxic and may cause heart failure. Gemcitabine and vinorelbine are commonly used drugs for various solid organ neoplasms. While neither of these chemotherapeutic drugs has been directly associated with cardiotoxicity, there are a few case reports in the literature related to gemcitabine treatment- induced cardiomyopathy. This case report describes a case of TTS developing within hours of gemcitabine and vinorelbine chemotherapy.

Do sporting activities and using protein supplements change the frontal QRS-T angle?

BACKGROUND: The aim of this study was to investigate whether the frontal QRS-T angle was different between the athletes and normal healthy people. METHODS: The study included 122 healthy athletes (the mean age was 29.7±7.7 years, of them, were 73.8% male) and a control group consisted of 60 healthy people (the mean age was 29.8±7.8 years, 26% of them were male). Then, the athletes were divided into two groups as who used protein supplements (PS) and those who did not. In the 12-lead ECG, heart rate (HR), P, QRS, QT, corrected QT (QTc) duration, QT and corrected QT dispersion (QTD, QTcD), the sum of V1 or V2S amplitude and V5 or V6R amplitude (V1/2S+V5/6R), frontal QRS-T angle were calculated. RESULTS: There was no significant difference between the athletes and control groups regarding age, gender, smoking, body mass index, systolic blood pressure (SBP) and diastolic blood pressure (DBP), echocardiographic features, P, PR duration, P, QRS, T axis, QTD and QTcD (P>0.05).HR and QTc were significantly lower (P<0.05) and QRS, QT duration was longer in athletes group (P<0.001). The V1/2S+V5/6R and frontal QRS-T angle values were higher in the athlete's group (P<0.001). There was no significant difference between PS users and non PS users regarding demographic characteristics, duration of sports years, SBP and DBP (P>0.05). However, male gender was dominant in the PS users group (P=0.018). The P axis, PR and QRS duration were longer in the PS users group (P<0.05).It was found that the T axis was negatively correlated (r=-0.431,P<0.001) but the QRS axis was positively correlated (r=0.395,P<0.001) with frontal QRS-T angle. CONCLUSIONS: The frontal QRS-T angle, was found to be wider in athletes compared to normal healthy participants. However, there was no significant difference between who used PS and those who did not.

Hepatic and splenic sonographic and sonoelastographic findings in pulmonary arterial hypertension.

PURPOSE: The aim of this study was to evaluate the associations of sonographic and sonoelastographic parameters with clinical cardiac parameters, as well as to assess their value in predicting survival in patients with pulmonary arterial hypertension (PAH). METHODS: Thirty-six patients with PAH and normal liver function were prospectively enrolled in this prospective study along with 26 healthy controls, all of whom underwent ultrasound and point shear wave elastography examinations. Additionally, the portal vein pulsatility index (PVPI), inferior vena cava collapsibility index, and clinical cardiac variables were obtained in PAH patients. The values of hepatic (LVs) and splenic shear wave velocity (SVs) were compared between PAH patients and controls. The relationships between all sonographic and clinical parameters in the PAH patients were analyzed. Furthermore, their prognostic value in predicting survival was investigated. RESULTS: LVs values in PAH patients (median, 1.62 m/s) were significantly higher than in controls (median, 0.99 m/s), while no significant difference was observed in SVs values. Patients with higher grades of tricuspid regurgitation (TR) had significantly different values of PVPI (P=0.010) and sonoelastographic parameters (P<0.001 for LVs and P=0.004 for SVs) compared to those with less severe TR. Tricuspid annular plane systolic excursion values were the only investigated parameter found to be associated with survival (hazard ratio, 0.814; 95% confidence interval, 0.694 to 0.954; P=0.011). CONCLUSION: Our results demonstrated a direct association between cardiac congestion (i.e., the severity of TR) and liver stiffness, which should be kept in mind during the assessment of fibrosis in patients with PAH.

The beneficial effect of low-intensity exercise on cardiac performance assessed by two-dimensional speckle tracking echocardiography.

BACKGROUND: Regular physical activity is associated with cardiovascular health; however, intensive exercise can have harmful effects on the heart. Two-dimensional (2D) speckle tracking echocardiography (STE) is a well-established diagnostic tool to evaluate subclinical myocardial dysfunction and has been widely used in athletes in recent years. This study is designed to evaluate whether low-intensity exercise has beneficial effects on myocardial performance. We aimed to evaluate systolic and diastolic functions of myocardium derived from STE in sports practitioners in a low-intensity exercise training program. METHOD: Eighty-four sports practitioners and eighty-two sedentary healthy controls were prospectively included in our study. In addition to standard 2D echocardiographic measurements, left ventricular (LV) global longitudinal strain (GLS), right ventricular (RV) GLS, RV-free wall strain (FWS), left atrium (LA) strain, and strain rate were analyzed. RESULTS: Mean LV GLS was significantly higher in sports practitioners compared with sedentary population (-19.21 ± 2.61% vs -18.37 ± 2.75%, P = .044). RV GLS was significantly higher in sports practitioners than sedentary population (-21.82 ± 4.86% vs -20.04 ± 4.62%, P = .016). Longitudinal strain and strain rate of LA conduit phase were significantly higher in sports practitioners than sedentary participants (-23.60 ± 6.83% vs -20.20 ± 6.64%, P = .001; -2.45 ± 0.81 L/s vs -2.10 ± 0.89 L/s, P = .010; respectively). Also, LA conduit phase strain/contraction phase strain and conduit phase strain rate/contraction phase strain rate ratios were higher in sports practitioners (1.88 ± 0.93 vs 1.48 ± 0.63, P = .001; 1.42 ± 0.65 vs 1.16 ± 0.53, P = .005; respectively). CONCLUSION: The findings in the current study suggest that regular low-intensity exercise may have a beneficial effect on both systolic and diastolic functions of the myocardium.

Assessment of right ventricular function in patients with pulmonary arterial hypertension-congenital heart disease and repaired and unrepaired defects: Correlation among speckle tracking, conventional echocardiography, and clinical parameters.

OBJECTIVE: The purpose of this study is to compare the analysis of right ventricular (RV) free wall strain via 2D speckle tracking echocardiography with conventional echocardiography and clinical parameters in patients with pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) receiving specific treatment. This study also aims to describe the differences between patients with repaired and unrepaired defects. METHODS: This prospective study included 44 adult patients with PAH-CHD who were receiving PAH-specific treatment in a single center. This study excluded patients with complex congenital heart disease. The authors studied the conventional echocardiographic parameters, such as RV fractional area change (FAC), tricuspid annular plane systolic excursion (TAPSE), right atrial (RA) area, Tricuspid S', and hemodynamic parameters, such as functional class, 6-minute walking distance (6MWD), and N-terminal pro-brain natriuretic peptide (NT-proBNP) levels. RESULTS: The mean age of participants was 33.8±11.6 years, and 65.9% of participants were female. The mean RV free wall strain was -14.8±4.7%. Majority of the patients belonged to WHO functional class 2 (61.4%) with a mean NT-proBNP level of 619.2±778.4 and mean 6MWD of 400.2±86.9 meters. During the follow-up of 30.8±9.0 months, 6 patients (13.6%) developed clinical right heart failure, whereas 9 (20.5%) of them died. There was a positive and significant correlation between RV free wall strain and WHO functional class (r=0.320, p=0.03), whereas there was a negative correlation between RV free wall strain and FAC (r=-0.392, p=0.01), TAPSE (r=-0.577, p=0.0001), and Tricuspid S' (r=-0.489, p=0.001). There was no significant correlation of RV free wall strain with either RA area or 6MWD. Patients with repaired congenital heart defects had worse RV functional parameters and RV free wall strain than patients with unrepaired defects. CONCLUSION: The assessment of RV free wall strain via 2D speckle tracking echocardiography is a feasible method and correlates well with conventional echocardiography and clinical parameters in patients with PAH-CHD receiving specific treatment. (Anatol J Cardiol 2020; 23: 277-87).

Clinical characteristics and in-hospital outcomes of acute decompensated heart failure patients with and without atrial fibrillation.

OBJECTIVE: Atrial fibrillation (AF) and heart failure (HF) are common cardiovascular diseases. The impact of AF on in-hospital outcomes in acute decompensated heart failure (ADHF) is controversial. The aim of this study is to determine the prevalence of AF among hospitalized patients with ADHF and describe the clinical characteristics and in-hospital outcomes of these patients with and without AF. METHODS: We examined the multicenter, observational data from the real-life data of hospitalized patients with HF: Journey HF-TR study in Turkey that studied the clinical characteristics and in-hospital outcomes of hospitalized patients with ADHF between September 2015 and September 2016. RESULTS: Of the 1,606 patients hospitalized with ADHF, 626 (39%) had a history of AF or developed new-onset AF during hospitalization. The patients with AF were older (71±12 vs. 65±13 years; p<0.001) and more likely to have a history of hypertension, valvular heart disease, and stroke. The AF patients were less likely to have coronary artery disease and diabetes. In-hospital adverse event rates and length of in-hospital stay were similar in ADHF patients, both with and without AF. In-hospital all-cause mortality rate was higher in patients with AF than in patients without AF, although the difference was not statistically significant (8.9% vs. 6.8%; p=0.121). CONCLUSION: AF has been found in more than one-third of the patients hospitalized with ADHF, and it has varied clinical features and comorbidities. The presence of AF is not associated with increased adverse events or all-cause mortality during the hospitalization time.

Epidemiology and clinical characteristics of hospitalized elderly patients for heart failure with reduced, mid-range and preserved ejection fraction.

INTRODUCTION: Elderly patients hospitalized with heart failure (HF) have high mortality rates and requires specific evidence based theraphy, however there are few studies which have focused on patients older than 80 years hospitalized with HF. The aim of the present study is to evaluate the overall clinical characteristics, management, and in-hospital outcomes of elderly patients hospitalized with HF. METHODS: Journey-HF study was conducted in 37 different centers in Turkey and recruited 1606 patients who were hospitalized with HF between September 2015 and September 2016. In this study, clinical profile of patients ≥ 80 years old and 65-79 years old hospitalized with HF were described and compared based on EF-related classification: HFrEF (HF with reduced ejection fraction), HFmrEF (HF with mid-range ejection fraction) and HFpEF (HF with preserved ejection fraction). RESULTS: A total of 1034 elder patients (71.6% 65-79 years old and 28.4% ≥80 years old) were recruited. Of the 65-79 years old patients 67.4% had HFrEF, 16.2% had HFmrEF and 16.3% had HFpEF. Among patients ≥80 years old 61.6% had HFrEF, 15.6% had HmrEF and 22.8% had HFpEF. When compared with patients with HFrEF and HFmrEF, patients ≥80 years old with HFpEF were more likely to be older, have atrial fibrilation (AF), and less likely to have diabetes mellitus (DM), coronary artery disease (CAD) or to be recieving an angiotensin-converting enzyme inhibitor (ACEi) or beta blocker theraphy. When compared to patients 65-79 years old with HFpEF, patients ≥80 years with HFpEF had a higher rate of AF and less likely DM. Acute coronary syndrome was the most common precipitant factor for hospitalization in both age groups with HFrEF group. Arrhythmia was a major precipitant factor for hospitalization of patients ≥80 years old with HFpEF. Non-compliance with theraphy was a major problem of patients ≥80 years old with HFrEF. CONCLUSION: Elderly patients with HFrEF, HFmrEF and HFpEF each had characterized unique patient profiles and the guideline recommended medications were less likely to be used in these patient populations. In hospital mortality rate is worrisome and reflects a need for more specific tretment strategy.

Is there any link between vitamin D deficiency and vasovagal syncope?

BACKGROUND: This study aimed to investigate serum 25[OH]D levels between patients with vasovagal syncope (VVS) diagnosed with head-up tilt table test (HUTT) and age-matched healthy people. METHODS: The study included 75 consecutive patients (32.3 ± 10.7 years), who presented with syncope and underwent HUTT and 52 healthy controls (32.9 ± 14.1 years). HUTT patients were divided into two groups according to whether there was syncope response to the test. Patients underwent cardiac, psychiatric, and neurological investigation. Serum 25[OH]D levels were measured by chemiluminescent microparticle immunoassay method. RESULTS: There was no difference between the two groups in terms of age, gender, body mass index (BMI), echocardiographic findings (P > .05). Mean serum 25[OH]D (24.5 ± 6.3 vs 20.1 ± 8.8 ng/mL, P = .003) and vitamin B12 levels (436.4 ± 199.2 vs 363.1 ± 107.6 pg/mL, P = .009) was lower in syncope patients when compared to the control group. In correlation analyses, syncope was shown as correlated with the vitamin D (r = -264, P = .003) and vitamin B12 levels (r = -233, P = .009). But, multivariate regression analyses showed that only vitamin D increased risk of syncope [OR: 0.946, 95% CI (0.901-0.994)]. There was no difference in terms of age, gender, BMI, echocardiographic findings between the in HUTT positive (n = 45) and negative groups (n = 29). Only vitamin D level was significantly lower in HUTT positive group (17.5 ± 7.7 vs 24.4 ± 9.1 ng/mL, P = .002). There was no difference among in the vasovagal subgroups in terms of vitamin D level and other features. CONCLUSION: Vitamin D and B12 levels were reasonably low in syncope patients, but especially low Vitamin D levels were associated with VVS diagnosed in HUTT.

Prevalence of inappropriate sinus tachycardia and the comparison of the heart rate variability characteristics with propensity score-matched controls.

OBJECTIVE: Inappropriate sinus tachycardia (IST) is a syndrome characterized by an elevated resting heart rate with distressing symptoms and no secondary cause of sinus tachycardia. This study was conducted to evaluate both the prevalence of IST among symptomatic patients and heart rate variability (HRV) characteristics. METHODS: The records of all consecutive symptomatic patients who had undergone 24-hour Holter monitoring between September 2015 and November 2016 at a single center were retrospectively evaluated. IST was defined as a 24-hour mean heart rate (HR) of ≥90 beats/minute and a resting HR of ≥100 beats/minute in the absence of any secondary cause of sinus tachycardia. All of the study data related to clinical characteristics, symptoms, concomitant diseases, and Holter electrocardiogram parameters were obtained from the electronic hospital records. A propensity age- and sex-matched control group was selected from a non-IST patient cohort. RESULTS: A total of 1865 consecutive patients were evaluated and 32% were excluded due to an inadequate Holter recording period or insufficient quality, atrial fibrillation episodes, atrioventricular block, or >1% atrial or ventricular extrasystoles. Among 1265 patients with sinus rhythm, 4.98% (n=63) had IST. The IST patients were younger (39.6±17.4 vs. 50.2±17.2 years; <0.001), and female gender was more prominent (60.3% vs. 43.8%; p=0.009). All of the time and frequency domain parameters of HRV except the low frequency/high frequency ratio were significantly reduced in the IST group compared with the propensity-matched controls. CONCLUSION: The IST prevalence among symptomatic patients in sinus rhythm was 4.98%. IST was primarily seen in younger women, and they had diminished time and frequency domain HRV parameters.

Survival Benefit of Implantable-Cardioverter Defibrillator Therapy in Ambulatory Patients With Left Ventricular Assist Device.

BACKGROUND: Analysis of the prognostic effect of concomitant use of left ventricular assist devices (LVADs) and implantable -cardioverter defibrillators (ICDs) is lacking. The aim of this study is to define the survival effects of ICD therapy in ambulatory patients with LVAD. METHODS AND RESULTS: Patients with continuous-flow (cf) LVAD in a single tertiary center from December 2010 to May 2016 were retrospectively analyzed. Over a 6-year period, 257 patients had cf-LVAD implantation, 227 of them survived to discharge after the first month of LVAD implantation and were included in the study. The median follow-up time was 14 months, and 104 (45.8%) patients had ICD. One hundred and thirty-two (58.1%) patients were still under LVAD support at the end of the study period. Forty (17.6%) patients had heart transplantation, and 55 (24.2%) died. There was no significant difference between groups with ICD and without ICD for baseline characteristics except for higher pulmonary pressures and amiodarone use in the ICD group. Survival analysis showed significant survival benefit of ICD therapy (P = .02). After multivariate analyses including age, sex, left ventricular ejection fraction, and ß-blocker usage, the benefit of ICD continued (hazard ratio: 0.54; 95% confidence interval, 0.303-0.975; P = .041). CONCLUSIONS: Ventricular arrhythmias (VAs) do not cause acute hemodynamic deterioration in patients with LVAD. However, VAs might be associated with poor prognosis. The present study showed that ICD therapy may improve survival among ambulatory patients with cf-LVAD-supported heart failure.

Effect of Testosterone Level on Mortality in Patients With Left Ventricular Assist Device.

BACKGROUND AND OBJECTIVES: Testosterone deficiency is associated with mortality in patients with heart failure; however, its effects on patients undergoing Left Ventricular Assist Device (LVAD) implantation are unclear. We investigated the role of total testosterone (TT) and free testosterone (FT) levels on mortality undergoing LVAD implantation. METHODS: Between December 2010 and December 2014, 101 consecutive male patients who underwent LVAD implantation and had plasma testosterone measurement (TT and FT) in the last month before operation were included in the study. Demographics, follow-up, and mortality data were analyzed retrospectively. RESULTS: The mean age of the patients was 51.7 ± 11 years. TT and FT levels were in the below normal range of 31.6% (n = 32) and 65.3% (n = 66) of the patients, respectively. The mean follow-up time was 355 ± 268 days, and 32 (31%) patients died during follow-up. Cumulative survival rates were significantly worse in patients with low TT and FT than patients in the normal range (P < .001 and P = .029, respectively). Multivariate analysis after adjustment for clinical variables, age, albumin, C-reactive protein, total cholesterol, chronic kidney disease, diabetes mellitus (DM), and leukocytosis showed that low TT and FT were independently associated with poor survival (HR, 3.680; 95% CI, 1.615-8.385 P = .002 and HR, 3.816; 95% CI, 1.279-11.383, P = .016, respectively). CONCLUSION: Low TT and FT levels were independent risk factors for mortality in patients with LVAD.

Effects of chronic cigarette smoking on myocardial deformation parameters by two-dimensional speckle tracking echocardiography.

BACKGROUND: Cigarette smoking causes myocardial damage with several mechanisms such as sympathetic nervous system activation, oxidative stress, and endothelial dysfunction. Chronic smokers have an increased risk of morbidity and mortality associated with cardiac events. We aimed to compare the myocardial deformation parameters between chronic smokers and nonsmoker healthy population. METHOD: Forty-two healthy participants (mean age 33.48 ± 10.00 years) without smoking history, 40 participants (mean age 33.98 ± 9.27 years) who had been smoking were prospectively included. In addition to conventional echocardiographic measurements, global longitudinal strain (GLS) of left ventricle (LV), GLS of right ventricle (RV), left atrial strain, and strain rate were analyzed. RESULTS: Smokers had lower peak early diastolic velocity (E) and E/a (early diastolic velocity/late diastolic velocity) ratio in mitral inflow (70.0 ± 13.9 cm/sec vs 77.1 ± 13.3 cm/sec, P = .023; 1.4 ± 0.4 vs 1.7 ± 0.4, P = .011; respectively). Peak early diastolic velocity of mitral valve septal annulus (Em) and Em/Am ratio (peak early diastolic velocity of mitral valve/late diastolic velocity of mitral valve) (11.0 ± 2.1 cm/sec vs 12.1 ± 2.4 cm/sec, P = .023; 1.2 ± 0.3 vs 1.4 ± 0.4, P = .039; respectively) were lower in smokers. LV GLS and RV GLS were significantly lower in smokers (-17.6% ± 3.01 vs -19.2% ± 2.5; P = .013, -18.9% ± 4.4 vs -21.0% ± 4.5; P = .039; respectively). CONCLUSION: Impaired LV and RV deformation were found in chronic smokers in our study. Although there was no statistically significant difference with left ventricular ejection fraction, LV GLS which is the early indicator of LV systolic dysfunction was lower in chronic smokers. The assessment of early harmful effects of smoking on left and right ventricle might be evaluated with speckle tracking echocardiography.

Improvement of abnormal systolic motion of the interventricular septum with cardiac resynchronization therapy.

BACKGROUND: There is no consensus in the literature regarding what is the responsible mechanism of left ventricular dyssynchrony; septal dyskinesia or late movement of left ventricle (LV) lateral wall. We aim to evaluate the abnormal systolic motion in each myocardial segment and the improvement of LV systolic function with pulsed tissue Doppler imaging (TDI) in patients undergoing cardiac resynchronization therapy (CRT) with left bundle branch block (LBBB). METHODS: A total of 26 patients undergoing CRT implantation with LBBB, wide QRS duration (≥120 ms), and low ejection fraction (EF) (<35%) were included. Pulsed TDI was taken from apical 4-chamber view and parasternal short axis view (PSAX). All echocardiographic parameters were measured when CRT is on and off. RESULTS: Systolic ejection time (ET) of anteroseptal and posterolateral wall of LV in PSAX was statistically significantly longer in CRT on group (321.6 ± 62.7 vs 237.5 ± 59.3 ms, P < .001; 323.9 ± 58.0 vs 289.4 ± 43.7 ms, P = .015, respectively). In apical 4-chamber view, septal annulus systolic ET is significantly longer in CRT on group than CRT off group (315.8 ± 57.2 vs 287.3 ± 42.2, P = .014). Also, there was a strong correlation between systolic ET of the septum in PSAX with aortic velocity time integral (VTI), QRS duration and EF (r = .587, P = .002; r = .479, P = .013; r = .440, P = .025; respectively). CONCLUSION: Circumferential contraction of septal myocardial fibers is improved with CRT and it is strongly correlated with increase of aortic VTI and shortening of QRS duration. These findings predict the deterioration of septal contraction as the main mechanism in patients with LBBB pattern and, CRT may improves myocardial contraction by correcting septal systolic motion.

The importance of intra-aortic pulse pressure after anterior ST-segment elevation myocardial infarction

Abstract Objective: To evaluate the association of pulse pressure (PP) with mortality and major adverse cardiac events (MACE) in one-year period after anterior ST-elevation myocardial infarction (A-STEMI). Methods: A total of 261 consecutive patients whose blood pressure was measured with the aid of a catheter before primary percutaneous coronary intervention (PPCI) between August 2016 and February 2017 were included in the study. The patients were divided into three groups according to pulse pressure (PP) (Group 1, PP<35 mmHg; Group 2, 35≤PP≤50 mmHg; Group 3, PP>50 mmHg). Results: The mean age of the patients was 63.4±14.1 years, and 206 of them were male. The groups were similar in terms of age and diastolic blood pressure (DBP). The ratio of female patients in Group 1 was higher, and their systolic blood pressure (SBP) was lower than those from the other groups (P=0.005 vs. P=0.042). The rates of MACE and mortality were higher in Group 1. The predictive PP values were calculated to be 42.5 mmHg for development of MACE and 41.5 mmHg for mortality. One-year survival ratio was worse in Group 1 than in the others according to Kaplan-Meier analysis (P<0.001). Conclusion: The values of PP which was measured intra-aortically in patients with A-STEMI were associated with mortality and MACE in the one-year follow-up period.