Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.

Fabry disease (FD) is an X-linked rare disorder caused by mutations in the GLA gene. Women with FD have been less enrolled in studies and less treated compared with men. The aim of the present study is to describe the complete phenotype of the women cohort with FD diagnosed and evaluated in Romania and compare it to the male population.

MSA-VT Score for Assessment of Long-Term Prognosis after Electrical Storm Ablation.

Introduction: Prognosis after electrical storm (ES) ablation remains severe, especially in patients with recurrent sustained monomorphic ventricular tachycardia (SMVT) or progressive heart failure (HF). However, single-factor-based prediction is suboptimal and may be refined by more complex algorithms. We sought to evaluate if a novel score MSA-VT (M = moderate/severe mitral regurgitation, S = severe HF at admission, A = atrial fibrillation at admission, VT = inducible SMVT after ablation) may improve prediction of death and recurrences compared to single factors and previous scores (PAINESD, RIVA and I-VT).

Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review.

Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic disorder, most often caused by sarcomeric gene mutations, with a small proportion due to variants in non-sarcomeric loci. Phospholamban (PLN) is a phosphoprotein associated with the cardiac sarcoplasmic reticulum, a major determinant of cardiac contractility and relaxation. We conducted a retrospective study to determine the prevalence, phenotypical spectrum and clinical course of patients carrying the p.

Complex Substrate Leading to PVC-Mediated Systolic Dysfunction in addition to Sustained Monomorphic VT in Repaired Tetralogy of Fallot.

Frequent premature ventricular complexes (PVCs) are associated with deleterious effects on left ventricular (LV) function in various clinical scenarios. Repaired tetralogy of Fallot (rTOF) is frequently affected by sustained ventricular arrhythmias dependent on complex post-surgical substrates. However, there is limited data regarding the potential of arrhythmogenic isthmuses to generate frequent PVCs and PVC-mediated LV systolic dysfunction development in rTOF.

Non-revascularized chronic total occlusions impact on substrate and post-ablation results in drug-refractory electrical storm.

Background And Aims: There is limited data concerning the effect of non-revascularized chronic total occlusions (NR-CTOs) after VT ablation. This study sought to evaluate the impact of NR-CTOs after ablation for electrical storm (ES).

Methods: Post-hoc retrospective analysis of data regarding 64 consecutive post-myocardial infarction patients (out of which 12 patients with NR-CTOs and 52 without NR-CTOs) undergoing substrate ablation for ES with an available median follow-up of 37.

Cardiac Resynchronization Therapy and Hypertrophic Cardiomyopathy: A Comprehensive Review.

Hypertrophic cardiomyopathy (HCM) is an inherited primary myocardial disease characterized by asymmetrical/symmetrical left ventricle (LV) hypertrophy, with or without LV outflow tract (LVOT) dynamic obstruction, and poor prognosis. Cardiac resynchronization therapy (CRT) has emerged as a minimally invasive tool for patients with heart failure (HF) with decreased LV ejection fraction (LVEF) and prolonged QRS duration of over 120 ms with or without left bundle branch block (LBBB). Several HCM patients are at risk of developing LBBB because of disease progression or secondary to septal myomectomy, while others might develop HF with decreased LVEF, alleged end-stage/dilated HCM, especially those with thin myofilament mutations.

Cardiac Magnetic Resonance Imaging in Appraising Myocardial Strain and Biomechanics: A Current Overview.

Subclinical alterations in myocardial structure and function occur early during the natural disease course. In contrast, clinically overt signs and symptoms occur during late phases, being associated with worse outcomes. Identification of such subclinical changes is critical for timely diagnosis and accurate management.

Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation-Family Case Report and Review of the Literature.

PRKAG2 syndrome (PS) is a rare, early-onset autosomal dominant phenocopy of sarcomeric hypertrophic cardiomyopathy (HCM), that mainly presents with ventricular pre-excitation, cardiac hypertrophy and progressive conduction system degeneration. Its natural course, treatment and prognosis are significantly different from sarcomeric HCM. The clinical phenotypes of PRKAG2 syndrome often overlap with HCM due to sarcomere protein mutations, causing this condition to be frequently misdiagnosed.

Right atrial lipoma: A case report and literature review.

Cardiac lipomas are generally asymptomatic even in large dimensions. Echocardiograms can identify tumors, but cardiac magnetic resonance imaging or cardiac computerized tomography can differentiate cardiac lipomas from other cardiac tumors. The present study is a case report of an asymptomatic 30-year-old man diagnosed with atrial lipoma.

Case Report: Pulmonary Vein Isolation as a Tailored Treatment for Recurrent Ventricular Tachycardia During Hemodialysis in a Patient With Right Coronary Artery Chronic Total Occlusion.

Background: Catheter ablation of the ventricular substrate can reduce ventricular tachycardia (VT) recurrence and mortality in an electrical storm (ES). However, identification and specific treatment of plausible triggers is mandatory and may lead to the resolution of ES.

Objective: This case presentation seeks to exemplify how pulmonary vein isolation (PVI) may represent a tailored treatment of ES in cases of ventricular substrate, which only becomes arrhythmogenic during high-rate episodes of paroxysmal atrial fibrillation (PAF).

Right atrial phasic function and outcome in patients with heart failure and reduced ejection fraction: Insights from speckle-tracking and three-dimensional echocardiography.

Background: Atrial phasic function can be assessed using speckle-tracking and three-dimensional (3D) echocardiography. The extent and role of right atrial (RA) dysfunction in left-sided heart failure (HF) is incompletely understood. We aimed to characterize RA phasic function in HF with reduced ejection fraction (HFrEF) and to assess its prognostic significance.

Three-dimensional right ventriculo-arterial coupling as an independent determinant of severe heart failure symptoms in patients with dilated cardiomyopathy.

Background: Right ventricular-pulmonary artery coupling (RVPAC) is a predictor of outcome in pulmonary hypertension. However, the role of this parameter in dilated cardiomyopathy (DCM) remains to be established. The aim of this study was to assess the contribution of RVPAC to the occurrence of severe heart failure (HF) symptoms in patients with DCM using three-dimensional (3D) echocardiography.

Non-invasive right ventriculo-arterial coupling as a rehospitalization predictor in dilated cardiomyopathy: A comparison of five different methods.

Background: Right ventricular (RV) pulmonary artery coupling (RVPAC) is a predictor of outcome in left-sided heart failure (HF). Several echocardiographic estimates for RVPAC have been proposed.

Aims: This study aimed to compare multiple non-invasive methods to calculate RVPAC and to assess its prognostic role in patients with dilated cardiomyopathy (DCM).

The prognostic value of right ventricular longitudinal strain and 3D ejection fraction in patients with dilated cardiomyopathy.

Several studies showed that right ventricular (RV) dysfunction is a powerful predictor in heart failure (HF). Advanced echocardiographic techniques such as speckle-tracking imaging and three-dimensional (3D) echocardiography proved to be accurate tools for RV assessment, but their clinical significance remains to be clarified. The aim of this study was to evaluate the role of two-dimensional (2D) RV strain and 3D ejection fraction (RVEF) in predicting adverse outcome in patients with non-ischemic dilated cardiomyopathy (DCM).

Ratio between Right Ventricular Longitudinal Strain and Pulmonary Arterial Systolic Pressure: Novel Prognostic Parameter in Patients Undergoing Cardiac Resynchronization Therapy.

Background: We aimed to evaluate whether right ventricle (RV) longitudinal strain indexed to pulmonary arterial systolic pressure (PASP) has prognostic significance in patients undergoing cardiac resynchronization therapy (CRT).

Methods: Patients undergoing CRT were prospectively included. The primary endpoint was adverse cardiovascular events (death and HF-related hospitalizations).

Right ventricular-arterial coupling - A new perspective for right ventricle evaluation in heart failure patients undergoing cardiac resynchronization therapy.

Background: Right ventricular - arterial (RV-PA) coupling can be estimated by echocardiography using the ratio between (TAPSE) and pulmonary arterial systolic pressure (PASP). TAPSE/PASP ratio proved to be a prognostic parameter in patients with heart failure and reduced ejection fraction (HFrEF).

Objective: To evaluate the significance of RV-PA coupling in patients with HFrEF undergoing cardiac resynchronization therapy (CRT).

The Role of Left-Atrial Mechanics Assessed by Two-Dimensional Speckle-Tracking Echocardiography to Differentiate Hypertrophic Cardiomyopathy from Hypertensive Left-Ventricular Hypertrophy.

Unlabelled: Hypertrophic cardiomyopathy (HCM) and arterial hypertension (HTN) are conditions with different pathophysiology, but both can result in left-ventricular hypertrophy (LVH). The role of left-atrial (LA) functional changes detected by two-dimensional speckle-tracking echocardiography (STE) in indicating LVH etiology is unknown.

Methods: We aimed to characterize LA mechanics using STE in LVH patients with HCM and HTN.

Forgotten No More-The Role of Right Ventricular Dysfunction in Heart Failure with Reduced Ejection Fraction: An Echocardiographic Perspective.

During the last decade, studies have raised awareness of the crucial role that the right ventricle plays in various clinical settings, including diseases primarily linked to the left ventricle. The assessment of right ventricular performance with conventional echocardiography is challenging. Novel echocardiographic techniques improve the functional assessment of the right ventricle and they show good correlation with the gold standard represented by cardiac magnetic resonance.

Impact of Increased Oxidative Stress on Cardiovascular Diseases in Women With Polycystic Ovary Syndrome.

Polycystic ovary syndrome (PCOS) is a complex disorder that affects around 5% to 10% of women of childbearing age worldwide, making it the most common source of anovulatory infertility. PCOS is defined by increased levels of androgens, abnormal ovulation, irregular menstrual cycles, and polycystic ovarian morphology in one or both ovaries. Women suffering from this condition have also been shown to frequently associate certain cardiovascular comorbidities, including obesity, hypertension, atherosclerosis, and vascular disease.

Gender Disparities in the Prevalence, Awareness, Treatment, and Control of High Blood Pressure.

The gender effects in arterial hypertension (HT) epidemiology remain poorly clarified to date. We present an up-to-date review of the data regarding gender disparities in HT's prevalence, awareness, treatment, and control. Based on the data from three consecutive national-representative SEPHAR (Study for the Evaluation of Prevalence of Hypertension and Cardiovascular Risk in Romania) surveys conducted between 2005 and 2016, we provide insights into gender differences in HT's epidemiology and their 11- years the evolutionary trend in a high-CV risk European country.

Severe Aortic Stenosis and ATTRwt Amyloidosis - Beware in the Aging: A Case Report and Review of the Literature.

Degenerative aortic valve (AV) disease is the most frequent valvular heart disease slowly progressing to severe aortic stenosis (AS) which usually requires aortic valve replacement. Another frequent condition, especially among elderly people, is cardiac amyloidosis (CA), particularly the wild-type transthyretin cardiac amyloidosis (ATTRwt). Since both of these diseases are considered a marker of ageing, there is a significant proportion of elderly patients who associate both severe AS and CA.