Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta.

Background: Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.

Case Presentation: We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis.

Prediction of New-Onset Atrial Fibrillation in Transcatheter Aortic Valve Implantation.

Background: This study investigates the association between prolonged total atrial conduction time and the development of new-onset atrial fibrillation (AF) following transcatheter aortic valve implantation (TAVI).

Methods: We enrolled 307 patients who underwent TAVI. Total atrial conduction time was calculated as the time between the onset of the P wave on the electrocardiography and the peak of the a' wave velocity (PA-TDI duration) on tissue Doppler imaging echocardiography.

Percutaneous interventions of coronary artery fistulas: a single-center experience.

Introduction: Coronary artery fistula (CAF) is a congenital communication between the coronary artery and other vascular structures or cardiac chambers. Percutaneous CAF closure is an emerging alternative to surgery, but long-term outcome data are limited.

Aim: To review our center's experience with percutaneous CAF closure methods.

Evaluation of Anaesthetic Approaches in Transcatheter Aortic Valv Implantation Procedures.

Objective: Transcatheter aortic valve implantation (TAVI) has emerged as an alternative to surgical aortic valve replacement and has become a popular treatment modality for inoperable or patients at high surgical risk with severe aortic stenosis. We aimed to evaluate our perioperative anaesthetic experiences with patients undergoing TAVI under sedation or general anaesthesia (GA).

Methods: One hundred and fifty-nine patients who underwent TAVI procedures were enrolled.

Unlocking Promising Therapies: Drug-Eluting Stents in Medically Refractory Angina Patients With Myocardial Bridging.

Myocardial bridging (MB) is a congenital variation in which a coronary artery segment tunnels through the myocardium instead of following its usual epicardial route. Although MB is usually diagnosed incidentally and has a good long-term prognosis, it can lead to complications such as angina, myocardial infarction, arrhythmias, and sudden death. This study aimed to evaluate the outcomes of drug-eluting stent (DES) implantation in patients with MB and medically refractory angina.

Pulmonary hypertension in Behçet's disease: echocardiographic screening and multidisciplinary approach.

Background: Little is known about the prevalence and causes of pulmonary hypertension (PH) in Behçet's disease (BD). This study was conducted to determine the prevalence and causes of PH in BD.

Methods: In this descriptive study, we screened 154 patients with BD for PH using transthoracic echocardiography between February 2017 and October 2017.

Association between oxygen delivery and digital ulcers in systemic sclerosis.

Objective: Tissue hypoxia due to microvasculopathy is the main cause of digital ulcers (DUs) in systemic sclerosis (SSc). Reduced oxygen delivery (DO2) to the tissues may also contribute to the development of DU. This study was conducted to investigate the association between DO2 and DUs in patients with SSc.

Evaluation of left ventricle systolic functions with 2D strain echocardiography after transcatheter aortic valve replacement in patients with severe aortic stenosis.

Objective: There is deterioration in global left ventricular (LV) longitudinal function in patients with severe aortic valve stenosis, and the decrease in LV global longitudinal strain (GLS) is associated with worsening prognosis. The aim of the study is to examine LV mechanical changes with LV strain imaging in addition to routine examination in patients who underwent transcatheter aortic valve replacement (TAVR).

Methods: Fifty patients who had been scheduled for the TAVR procedure between 2016 and 2018 were enrolled.

Impaired Balance and Gait Characteristics in Patients With Chronic Heart Failure.

Background And Aims: Heart failure affects most systems of the body and causes various problems in patients. Balance deficits and gait deviations can be a result of these effects. There is little information in the literature about balance and gait parameters in chronic heart failure (CHF).

CT dose management for neurologic events in patients with cardiac devices: Radiation exposure variation in patients with cardiac devices.

Purpose: To compare the inter-center cranial computed tomography (CT) acquisition rates, CT findings, CT related radiation dose, and variability of CT acquisition parameters for neurologic events among patients with implantable cardioverter-defibrillator (ICD) or left ventricular assist device (LVAD).

Methods: A total of 224 patients [ICD group (n = 155) and LVAD group (n = 69)] who had at least one cranial CT scan were enrolled from three medical centers. The variability and effect of the number, indication, and findings of cranial CT scans as well as CT acquisition parameters including tube potential, tube current, tube rotation time (TI), slice collimation (cSL), and spiral or sequential scanning techniques on CT dose index volume (CTDIvol), total dose length product (DLP) were analyzed.

Evaluation of atrial fibrosis in atrial fibrillation patients with three different methods.

Background: The presence of atrial fibrosis has already been known as a risk factor for atrial fibrillation (AF) development. We aimed to evaluate atrial fibrosis with previously defined three different methods, which were cardiac magnetic resonance imaging (C-MRI), echocardiographic strain imaging, and biomarkers and show the relationship between these methods in patients with AF scheduled for cryoballoon ablation.

Methods: A total of 30 patients were enrolled.

The relationship between retinal microcirculation and right heart catheterization and echocardiography findings in patients with idiopathic pulmonary arterial hypertension.

Objective: To determine the possible alterations of retinal microcirculation associated with right-sided intracardiac pressures in patients with IPAH.

Methods: Twenty patients with IPAH and 20 age- and sex-matched healthy controls were included in the study. Hemodynamic data were obtained from the most recent right heart catheterization.

Assessment of Diastolic Function and Thiol-Disulphide Homeostasis in Arsenic-Exposed Workers.

Objectives: Exposure to arsenic is associated with various cardiovascular diseases. The imbalance between antioxidant and oxidant homeostasis plays a crucial role in the cardiovascular effects of arsenic. The aim of this study was to investigate the effect of arsenic exposure on diastolic function by measuring thiol and disulphide in arsenic-exposed workers.

Long-term follow-up outcomes in a real-world study cohort after percutaneous patent foramen ovale closure.

Objective: In recent years, percutaneous closure of a patent foramen ovale (PFO) has gained widespread use. This study is an evaluation of the safety and efficacy of the Figulla and Amplatzer devices for PFO closure, including long-term follow-up results.

Methods: A total of 305 patients (43.

How did the updated hemodynamic definitions affect the frequency of pulmonary hypertension in patients with systemic sclerosis?

Objective: Pulmonary hypertension (PH) is a one of the major causes of death in patients with systemic sclerosis (SSc). In this study, we investigated the impact of updated hemodynamic definition proposed by the 6th PH World Symposium (6th WSPH) on the frequency of PH and its subtypes in patients with SSc.

Methods: Patients with SSc admitted between 2015 and 2019 and who underwent right heart catheterization (RHC) were included.

Four-Dimensional Echocardiographic Evaluation of Left Ventricular Systolic Functions in Patients with Chronic Myeloid Leukaemia Receiving Tyrosine Kinase Inhibitors.

Tyrosine kinase inhibitors (TKIs) are established treatment for haematological malignancies. However, cardiac adverse effects, including the reduction in left ventricular ejection fraction and symptomatic heart failure remain clinical problems. The purpose of this study was to evaluate the left ventricular systolic functions in patients with chronic myeloid leukaemia receiving TKIs.

Is Takayasu's arteritis more severe in children?

Objectives: Takayasu's arteritis (TAK) is a chronic vasculitis, affecting predominantly the aorta and/or its major branches. The aim of this study was to compare the differences between childhood and adult onset TAK.

Methods: We retrospectively evaluated 179 TAK patients followed between August 2005 and July 2019.

Transseptal access through atrial flow regulator device during ventricular tachycardia ablation.

Novel interventional therapies for heart failure patients are emerging like atrial flow regulator (AFR). Our case showed that endocardial ventricular tachycardia (VT) ablation could be performed safely by passing through the AFR device lumen without additional transseptal puncture in these patients.