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.

The Effect of Smoking on Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease Patients with Preserved Renal Function.

Background: In autosomal dominant polycystic kidney disease (ADPKD), endothelial dysfunction (ED) is common and occurs much earlier than kidney function impairment. The impact of smoking on ED in ADPKD patients has not been previously studied. The aim of this study was to investigate the potential contribution of smoking habits to ED and subclinical atherosclerosis in these patients.

Morning blood pressure surge in early autosomal dominant polycystic kidney disease and its relation with left ventricular hypertrophy.

Introduction: The activation of the sympathetic nervous system, which usually leads to a swift surge in blood pressure in the morning hours (MBPS) may be the cause of left ventricular hypertrophy (LVH) and endothelial dysfunction (ED) in early autosomal dominant polycystic kidney disease (ADPKD) patients. We studied the association between MBPS and LVH in ADPKD patients with preserved renal functions.

Methods: Patients with ADPKD with preserved renal functions were enrolled.

Mental status and physical activity in patients with homozygous familial hypercholesterolemia: A subgroup analysis of a nationwide survey (A-HIT1 registry).

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening disease due to high serum low-density lipoprotein (LDL) cholesterol levels. LDL cholesterol-lowering interventions are fundamental for patients with HoFH.

Objective: It was aimed to investigate the association between the mental status of patients with HoFH and healthy lifestyle behaviors.

Clinical management, psychosocial characteristics, and quality of life in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis in Turkey: Results of a nationwide survey (A-HIT1 registry).

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening inherited disease leading to early-onset atherosclerosis and associated morbidity. Because of its rarity, longitudinal data on the management of HoFH in the real world are lacking, particularly on the impact the condition has on quality of life (QoL), including the impact of the extracorporeal lipid removal procedure apheresis (LA).

Methods: The A-HIT1 study included 88 patients with HoFH aged ≥12 years receiving regular LA in 19 centers in Turkey.

What have we learned from Turkish familial hypercholesterolemia registries (A-HIT1 and A-HIT2)?

Background And Aims: Familial hypercholesterolemia (FH) is a common genetic disease of high-level cholesterol leading to premature atherosclerosis. One of the key aspects to overcome FH burden is the generation of large-scale reliable data in terms of registries. This manuscript underlines the important results of nation-wide Turkish FH registries (A-HIT1 and A-HIT2).

A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry).

Background And Aims: Homozygous familial hypercholesterolemia (HoFH) is a genetic condition characterized by lethally high levels of low-density lipoprotein cholesterol (LDL-C) from birth, and requires rapid and aggressive intervention to prevent death due to coronary heart disease and/or atherosclerosis. Where available, lipoprotein apheresis (LA) is the mainstay of treatment to promote survival.

Methods: A-HIT1 registry was conducted with the aim of providing insight to the real-life management of HoFH patients undergoing LA in Turkey, where LA procedures are fully reimbursed and widely available.

Use of tolvaptan in patients hospitalized for worsening chronic heart failure with severe hyponatremia: The initial experience at a single-center in Turkey.

Objective: The aim of the present study was to assess the efficacy and safety of tolvaptan for severe hyponatremia (SH) in hypervolemic heart failure (HF) patients within daily clinical practice.

Methods: We restrospectively reviewed our database on tolvaptan as an add-on treatment in hypervolemic patients admitted to our clinic due to deterioration of HF and having hyponatremia resistant to standard therapy. Severe hyponatremia was defined as serum sodium concentration ≤125 mEq/L.

Association of monocyte to HDL cholesterol level with contrast induced nephropathy in STEMI patients treated with primary PCI.

Background: Contrast induced nephropathy (CIN) has been proven to be a clinical condition related to adverse cardiovascular outcomes. In recent studies, the monocyte to high density lipoprotein ratio (MHR) has been postulated as a novel parameter associated with adverse renal and cardiovascular outcomes. In this study we investigated the association of MHR with CIN in ST-segment elevation myocardial infarction (STEMI) patients treated with primary percutaneous coronary intervention (PCI).

Prolonged Tpeak-Tend interval in anti-Ro52 antibody-positive connective tissue diseases.

Patients with connective tissue diseases (CTDs) may have prolonged corrected QT interval which indicates increased risk for ventricular arrhythmias. However, a more sensitive measure of ventricular repolarization, T-peak-to-end (Tpe) interval, has not been studied in CTDs. We aimed to investigate the relationship between ventricular repolarization abnormalities and anti-Ro52-positivity in subjects with connective tissue diseases (CTDs).

Catheter-directed ultrasound-accelerated thrombolysis may be life-saving in patients with massive pulmonary embolism after failed systemic thrombolysis.

The treatment options for high risk acute pulmonary embolism (PE) patients with failed systemic thrombolytic treatment (STT) is limited. The clinical use of catheter directed thrombolysis with the EkoSonic Endovascular System (EKOS) in this population has not been evaluated before. Catheter directed thrombolysis is an effective treatment modality for high risk PE patients with failed STT.

The relationship between serum lectin-like oxidized LDL receptor-1 levels and systolic heart failure.

Objectives: Lectin-like oxidized low-density lipoprotein receptor-1 (LOX-1) appears to be involved in atherosclerotic plaque vulnerability and rupture. In this study, we aimed to evaluate the utility of serum LOX-1 levels in the diagnosis and assessment of left ventricular systolic HF and LOX-1’s relationship with serum pro-brain natriuretic peptide (NT-proBNP).

Design And Settings: This was a cross-sectional study of all eligible patients admitted to the department of cardiology of the University Hospital between July 2011 and April 2012.

Early atherosclerosis in normotensive patients with autosomal dominant polycystic kidney disease: the relation between epicardial adipose tissue thickness and carotid intima-media thickness.

Epicardial adipose tissue thickness (EATT) is suggested as a novel marker of subclinical atherosclerosis. Despite increased carotid intima-media thickness (CIMT) in autosomal dominant polycystic kidney disease (ADPKD) patients, the extent of the relationship between CIMT and EATT is unknown. The main purpose of our study was to evaluate the relation between EATT and CIMT in normotensive ADPKD patients with well-preserved renal function.

Association of Aortic Diameters with Coronary Artery Disease Severity and Albumin Excretion.

Introduction: Aortic diameters, aortic distensibility, microalbuminuria, coronary artery disease which are all together related to vascular aging are investigated in this paper.

Methods: Eighty consecutive nondiabetic patients undergoing elective coronary angiography were enrolled into the study. Systolic and diastolic aortic diameters, aortic distensibility, CAD severity by angiogram with the use of Gensini scoring, and albumin excretion rates were determined.

Correlation between arterial stiffness and inflammatory markers in autosomal dominant polycystic kidney disease patients with preserved renal function.

Aim: To evaluate the association between arterial stiffness and inflammatory markers including C-reactive protein (CRP), pentraxin 3 (PTX3) and neutrophil-to-lymphocyte ratio (NLR) in autosomal dominant polycystic kidney disease (ADPKD) patients with preserved renal function.

Methods: A total of 52 ADPKD patients [mean (SD) age 38.2 (12.

Can infectious endocarditis during pregnancy be cured with only drug treatment?

During pregnancy, infective endocarditis (IE) is quite rare but has a high mortality rate in terms of the mother and the fetus. In this article, a 24-year-old patient with a history of mitral valve prolapse (MVP) who was hospitalized due to IE and treated successfully is presented. On echocardiography, severe mitral valve prolapse, severe mitral regurgitation, and vegetation on the posterior leaflet of mitral valve were observed.

Acute effect of hemodialysis on arterial elasticity.

Background/aim: Reduced arterial elasticity is an independent predictor of cardiovascular mortality in patients with end-stage renal disease (ESRD). Hemodialysis (HD) treatment per se can bring additional risk factors for vascular disease. Our study was designed to determine whether a single hemodialysis session leads to an acute alteration in parameters of arterial elasticity in ESRD.

[Management of multivalvular heart disease].

Multivalvular heart valve disease is not an uncommon situation. Although many studies include only patients with regurgitation or stenosis involving only one heart valve, several scenarios in which patients present with regurgitation and/or stenosis involving two or more valves exist. Data on multivalve disease are scarce because of a large number of possible combinations and also owing to difficulties of exact quantification and an overlap in surgical indications.

Arterial dysfunction in early autosomal dominant polycystic kidney disease independent of fibroblast growth factor 23.

Introduction: Recent studies report reduced vascular compliance and elevated levels of fibroblast growth factor 23 (FGF23) in patients with autosomal dominant polycystic kidney disease (ADPKD) and preserved kidney function. In the present study, we investigated the relationship between vascular compliance and FGF23 in patients in early phases of ADPKD.

Materials And Methods: We studied 54 ADPKD patients with preserved kidney function and 24 healthy individuals.

Acute Haemodialysis-induced Changes in Tissue Doppler Echocardiography Parameters.

Background: Tissue Doppler imaging (TDI) is a method that determines the tissue motion and velocity within the myocardium.

Aims: To characterize acute haemodialysis (HD)-induced changes in TDI-derived indices for patients that have end-stage renal disease (ESRD).

Study Design: Cross sectional study.

Treatment with a combination of bosentan and sildenafil allows for successful liver transplantation in a patient with portopulmonary hypertension.

Pulmonary arterial hypertension (PAH) that occurs in the setting of cirrhosis and portal hypertension is referred to as portopulmonary hypertension (PPHTN). Liver transplantation (LTx) is curative, but the presence of moderate-to-severe PPHTN may be a contraindication for transplantation because of the elevated risk of peri- and post-transplantation morbidity and mortality. We report a successful liver transplantation in a patient with liver cirrhosis after treatment of moderate-to-severe PPHTN with a combination of the dual endothelin receptor antagonist bosentan and the specific phosphodiesterase-5 inhibitor sildenafil.

Serum fetuin-A levels in patients with systolic heart failure.

Objective: Inflammation and dystrophic calcification have been associated with cardiovascular disease (CVD) and chronic heart failure (CHF). The aim of the present study was to investigate the potential usefulness of fetuin-A as a biomarker in CHF.

Methods: Serum fetuin-A was measured in 66 CHF patients with left ventricular function < 50% and in 31 healthy controls at baseline.