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Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown. Here, we show that mutations in KLHL24 cause HCM in humans. Using genome-wide linkage analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous families with HCM. Of the 11 young affected adults identified, 3 died suddenly and 1 had a cardiac transplant due to heart failure. KLHL24 is a member of the Kelch-like protein family, which acts as substrate-specific adaptors to Cullin E3 ubiquitin ligases. Endomyocardial and skeletal muscle biopsies from affected individuals of both families demonstrated characteristic alterations, including accumulation of desmin intermediate filaments. Knock-down of the zebrafish homologue klhl24a results in heart defects similar to that described for other HCM-linked genes providing additional support for KLHL24 as a HCM-associated gene. Our findings reveal a crucial role for KLHL24 in cardiac development and function.

Background Many small trials showed a significant improvement in blood pressure following renal artery stenting in patients with severe atherosclerotic renal artery stenosis, but data on renal function improvement is more conflicting. Recently, few trials have been conducted to evaluate the effect of this procedure on Left Ventricular Mass (LVM) and Left Ventricular Mass Index (LVMI). Objectives The aim of this study is to determine the effect of renal artery stenting on Blood Pressure, estimated Glomerular Filtration Rate (eGFR), Left Ventricular Mass (LVM), and Left Ventricular Mass Index (LVMI) in patients with severe atherosclerotic renal artery stenosis. Methods This is a prospective interventional study performed on forty patients with ischemic heart disease and medication resistant hypertension, who had severe (≥ 70%) atherosclerotic renal artery stenosis and underwent renal artery stenting. Blood pressure, LVM, LVMI and eFGR before renal artery stenting and after six months were assessed in these patients. Results There were significant reduction in systolic blood pressure (from 175.50 ± 17.28 mmHg to 137.30 ± 13.21 mmHg) (P < 0.001), and diastolic blood pressure (from 103.45 ± 8.91 mmHg to 84.30 ± 7.33 mmHg) (P < 0.001). Also, there were significant decrease in LVM (from 307.73 ± 108.13 g to 259.34 ± 92.17 g) (P = 0.004) and LVMI (from 174.70 ± 58.26 to 148.01 ± 49.77) (P = 0.004). LVM reduction was independent of SBP and DBP reduction (P = 0.376 and P = 0.196, respectively). Conclusions Renal artery stenting reduces Blood pressure and leads to regression of LVM independent of blood pressure reduction. Regardless of baseline eGFR, our study failed to find a significant increase in glomerular filtration rate.

Background: Pulmonary arterial hypertension (PAH) is a leading cause of death in systemic sclerosis (SSc) patients. Early detection of systolic failure in SSc patients will facilitate early treatment and improve the survival rate of these patients. Objectives: In this study, besides studying the RV function in SSC patients, attempts have beenmade to find a new possible nonin- vasive echocardiographic test for early diagnosis of systolic failure as a PAH complication. Methods: 30 patientswith at least a 2-year history of diffuse SSc confirmed by an expert rheumatologistwere enrolled in this study. All the patients underwent transthoracic echocardiography by an echocardiologist. Fractional area change (FAC) of the right ven- tricle (RV), tricuspid annular plane systolic excursion (TAPSE), RV lateralwall strain and strain rate (Base,Mid, Apex), RV-EDD and RV pressure with respect to inferior vena cava (IVC) diameter as well as Left Ventricle’s Ejection Fraction (LVEF) were evaluated. Results: The prevalence rate of PAH was reported 36.6% in this study. There was no significant relationship between LVEF and RV parameters. LVEF was found to be significantly higher in women whereas RV strain turned out to be higher inmen. Besides, there was a significant relation between pulmonary arterial pressure (PAP) and Basal (P = 0.03),mid RV strain (P = 0.002), RV strain rate (P = 0.001) and RV diameter (P = 0.02). Also, an inverse relationwas observed between RV systolic (P = 0.01) and diastolic functions (P = 0.007) with PAP. In addition, no significant relationship was found between LVEF and bodymass index (BMI) and RV parameters (P > 0.05). Moreover, Apical RV strain and LVEF were found to be higher inmales and females respectively. Furthermore, a significant relationshipwas found between RV strain and age (P = 0.027). Finally, the results did not show any relationship between RV systolic and diastolic functions and gender. Conclusions: This paper states the likely advantages of strain and strain rate echocardiography in identifying patients withmore diffused and severe SSc and the need for further longitudinal studies based on thementionedmethod for early diagnosis ofmyocar- dial impairment.

Introduction: Pulmonary vein stenosis includes narrowing of one or more pulmonary veins that may have congenital or acquired causes. Con- genital pulmonary vein stenosis is a rare condition and also a rare cause for pulmonary hypertension. Since identifying the etiology of pulmonary hypertension plays a crucial role in medical and surgical planning, we decided to introduce a rare case of pulmonary hypertension due to pulmonary vein stenosis. Case Presentation: A 29 year-old white female patient who was suering from exertional dyspnea was referred to our center for further evaluation. Our findings in transthoracic and transesophageal echocardiography showed pulmonary arterial hypertension with maximum gradient of 65 - 70 mmHg and moderate to large size secondom type oval shaped atrial septal defect (2 cm - 1.2 cm) with bidirectional shunt, in a predominantly left to right direction. Atrial septal defect rims were suitable for device closure. Due to out of proportional pulmonary hypertension with atrial septal defect, further evaluations were conducted and pulmonary vein stenosis was confirmed. In this case, the echocardiography findings were consistent with right upper pulmonary vein stenosis and justified severe pulmonary hypertension with the anomaly of atrial septal defect. Device closure of atrial septal defect and balloon angioplasty of pulmonary vein stenosis were performed for our patients. Three months later, in a follow up evaluation, it was revealed that the severity of pulmonary hypertension was declined from 65 - 70 mmHg to 40 mmHg. Conclusions: Only few cases of pulmonary hypertension secondary to congenital pulmonary vein stenosis in infancy were reported until now, and it is very uncommon in adult patients without any prior history of surgery. Patients with pulmonary vein stenosis often present with shortness of breath and may mimic symptoms of Chronic Lung Disease or pneumonia which result in misdiagnosis and treatment. Therefore, in patients with underlying congenital heart disease and out of proportional pulmonary hypertension, other potential and rare causes for pulmonary hypertension such as pulmonary vein stenosis should be considered and evaluated. It is recommended that cardiologists do not directly attribute pulmonary hypertension to the underlying heart disease without sucient assessment to rule out other possible causes for it.

Background: One of the inclusion criteria for applying atrial septal defect (ASD) closing procedure is an increased pulmonary-to- systemic blood flow ratio (Qp/Qs). Eccentricity index (EI) is associated with ventricular dysfunction in patients with pulmonary hypertension. Objectives: As ASDpatients have overload volume and pressure in their pulmonary arteries,we tried to test this hypothesis if EI and Qp/Qs ratio are possibly associated. Patients andMethods: This study is a correlation study. 64 patientswith primary diagnosis of secundumtype ASD enrolled in this study and echocardiography was performed for all of them. Data were analyzed by SPSS as well as descriptive and statistical tests. Results: Bivariate correlation test showed that therewas a positive and significant association betweenQp/Qs ratio and EI (r = 0.502, P = 0.001). Linear regression analysis showed that there was a linear association between Qp/Qs ratio and EI (Beta = 1.765, P = 0.001). Conclusions: We found that EI and Qp/Qs ratio are significantly and positively associated and Qp/Qs ratio can be easily estimated bymeasuring EI in secundumtype ASD patients.

Introduction Absence of the posterior mitral leaflet is usually fatal for fetus in utero. Although hypoplasia of the posterior mitral leaflet is usually present in children with symptomatic mitral regurgitation, it is usually evident in a few cases of asymptomatic adults. We decided to introduce a rare case with hypoplasia of the posterior mitral valve leaflet associated with aortic stenosis. Case Presentation A 24-year-old man was admitted with a history of atypical chest pain. The patient had a normal psychophysical growth. The physical examination showed 4/6 mid- systolic ejection murmurs over the left sternal border. Chest roentgenogram was normal and the electrocardiogram showed sinus rhythm with mild LVH. Meanwhile, the echocardiography revealed severe elongated sail- like anterior leaflet and hypoplasia of the posterior mitral leaflet with moderate valvular aortic stenosis. MR grade was mild due to the complete coverage of anterior mitral leaflet. Moreover, LV function and pulmonary arterial pressure were reported normal. Conclusions This abnormality was tolerated since adulthood and mitral regurgitation was gradually developed due to annulus dilation. Therefore, the posterior mitral leaflet did not have a significant impact on mitral valve performance.

OBJECTIVE To investigate the association between serum antibody titers to Hsp27 (anti-Hsp27) and pro-oxidant-antioxidant balance (PAB) in patients with angiographically-defined coronary artery disease (CAD) with or without the metabolic syndrome (MS). DESIGN Subjects (n=243) were classified into MS+ (n=161) and MS- (n=82) subgroups, based on the AHA/NHBLI criteria. RESULTS Serum anti-Hsp27 titers were found to be significantly higher in the MS+ vs. MS- group. However, no significant difference was observed in serum PAB values. When assessed for individual components of MS, increased serum anti-Hsp27 was found to be higher in subgroups with elevated triglycerides, elevated blood pressure and reduced high-density lipoprotein cholesterol (HDL-C). Subgroups of patients with elevated triglycerides had higher PAB values. HDL-C was the only significant predictor of anti-Hsp27 in the population as a whole. CONCLUSION The evidence from this investigation indicates the presence of elevated anti-Hsp27 in patients with concurrent CAD and MS compared to those with CAD alone.

A 69-year-old woman presented with a 2-week history of chest pain and mitral and aortic valve replacement 15 and 5 years earlier. Transthoracic echocardiography revealed a well-seated monoleaflet mitral valve and a bileaflet aortic valve with normal function. Cardiac catheterization showed 3-vessel coronary artery disease and an abnormal cluster of new vessels derived from the left atrial circumflex and posterior ventricle branches. Two- and 3-dimensional transesophageal echocardiography identified a semi-mobile oval left atrial mass with multiple internal cystic spaces, attached to the fossa ovalis region in the interatrial septum. The mass was resected. The pathological diagnosis was atrial myxoma.

Background: Exercise echocardiography is a well-validated technique for the diagnosis of coronary artery disease. In addition to the diagnostic role, it also provides useful prognostic information. Objectives: The aim of this cross sectional study was to assess the prognosis of patients with negative exercise echocardiographic results over a one-year period follow-up. Patients and Methods: The outcomes of 336 patients who had normal exercise echocardiograms were examined. All clinical and exercise echocardiogram parameters were recorded. Patients were followed up for 1 year. End points were defined as cardiac death, non-fatal myocardial infarction, hospital admission for coronary artery disease, and coronary revascularization. Results: Mean age was 54.55 ± 10.34 years. 63.4 % were women. The most frequent risk factor was hypertension. There was no significant statistical difference between men and women regarding the prevalence of systemic hypertension, diabetes mellitus, and history of coronary artery bypass grafting. 5.67% of men and 8.9 % of women had positive exercise tolerance test for ischemia. Hemodynamic parameters, diastolic function, severity of mitral regurgitation, pulmonary artery pressures, peak strain rate were not significantly different between men and women, but rest strain rates were significantly lower in women. Total exercise times and exercise capacity were higher in men. After a 1-year follow-up there was no cardiac events and mortality. Conclusions: Patients with normal exercise echocardiogram results regardless of ischemia or chest pain during the test had excellent outcomes over a one-year follow-up.

Anomalous origin of the circumflex artery of the right sinus of Valsalva is a rare finding which may be present with other cardiac malformations. A 19-year-old man presented with syncope. A transthoracic echocardiogram revealed discrete subaortic stenosis with a small defect just below the aortic valve, suggesting a ventricular septal defect. Transesophageal echocardiography showed anomalous origin of the circumflex artery from the right sinus of Valsalva. This was confirmed by coronary angiography. The patient underwent successful web resection without concomitant coronary surgery. Failure to demonstrate a coronary artery anomaly can be misleading for surgeons and perilous for patients.

Background: Rheumatismal mitral stenosis is less common today than it was several decades ago, but it is a common cause of mitral stenosis (MS) in the developing world. Mitral valve stenosis symptoms include fatigue, palpitations, and Shortness of breath especially with exertion. Objectives: The purpose of this prospective study was to determine the incidence of left atrial (LA) thrombus and the predisposing factors predicting its developments in patients with symptomatic rheumatismal mitral stenosis who underwent transesophageal echocardiography (TEE) planed for percutaneous transvenous mitral commissurotomy (PTMC). Patients and Methods: Patients who were referred to perform TEE before mitral balloon valvuloplasty enrolled the study. Data were analyzed by SPSS. Results: Out of 92 patients, females were 68 (73.91%). Mean age was 43.35 ± 13.94. They were classified into two groups based on the presence or absence of LA thrombus. Group A consisted of 21 patients (seven men and 14 women) with LA thrombus (mean age of 53.00 ± 15.70 years). Group B consisted of 71 patients (17 men and 54 women) without LA thrombus. There were no statistically significant differences between the two groups regarding age, sex, LA diameter, LA area, LA smoke, Trans-mitral mean pressure gradient, systolic pulmonary artery pressure, left ventricular ejection fraction and right ventricular function, but patients with LA clot had more LA appendage dysfunction, more frequent atrial fibrillation rhythm, and smaller mitral valve area (P = 0.020, 0.005 and 0.020 respectively) and the prevalence of MR was also lower in this group (P = 0.049). In our evaluation there was no statistically significant difference regarding the LA diameter or LA area in patients with or without LA smoke. Conclusions: The frequency of left atrial clots increased with the presence of LAA dysfunction, atrial fibrillation rhythm, and smaller mitral valve area. Presence of MR had protective effects against LA clots.

Hydatidosis is a parasitic infestation caused by Echinococcus granulosus . Although uncommon, cardiac involvement has serious consequences. The incidence, even in countries where it is endemic, is

We have measured the pro-oxidant-antioxidant-balance (PAB) levels in patients with defined coronary artery disease (CAD) and compared them with concentrations in healthy subjects.Based on angiography results, 400 patients with stable CAD were divided into CAD- and CAD+, this being further subcategorized into groups with single-, double- and triple-vessel disease (VD).The mean PAB values in the healthy subjects, was significantly lower than for other groups (P0.001). In CAD- patients, PAB levels were 123.2 ± 43.9, which was not statistically different compared to groups with SVD, 2VD and 3VD (P0.05). In the CAD+ group, PAB values in 1VD, 2VD and 3VD were not significantly different among patients with SVD, 2VD and 3VD (P0.05).In conclusion, we found higher levels of oxidative stress in CAD+ patients compared to healthy subjects. The oxidation level was not related to measures of the extent of CAD such as number of stenosed vessels.

In this study we aimed to assess the changes in pro-oxidant-antioxidant balance (PAB) after the placement of either a drug-eluting-stent (DES) or bare-metal-stent (BMS) in patients with stable coronary artery disease.Percutaneous coronary interventions (PCI) with either BMS or DES were undertaken for 152 patients (82 in the BMS and 70 in the DES groups respectively). PAB values were measured 24h before and after PCI.Baseline PAB values were 80.68 (64.98-99.37) and 98.86 (64.70-140.62) for BMS and DES group, respectively, which were not significantly different between the 2 groups (P0.05). Following PCI, median PAB values decreased to 72.10 (61.40-96.13) and 81.40 (54.15-121.90) in BMS and DES groups, respectively. The reduction was significant in both BMS and DES groups (P0.05). The changes in PAB values were -2.81 (-12.76 to 2.31) for BMS and -2.82 (-29.88 to 8.93) for DES group, which were not significantly different between the 2 groups (P0.05).We found that the reported difference in clinical outcomes following DES or BMS implantation cannot be attributed to differences in early changes in oxidative stress induction as assessed by changes in PAB values.