A5040817769- Cardiomyopathy and Myosin Studies
- Cardiovascular Function and Risk Factors
- Cardiovascular Effects of Exercise
- Cardiac pacing and defibrillation studies
- Williams Syndrome Research
- Trypanosoma species research and implications
- Viral Infections and Immunology Research
- Cardiac Arrhythmias and Treatments
- Congenital heart defects research
- Congenital Heart Disease Studies
- Cardiac Arrest and Resuscitation
- Cardiac Structural Anomalies and Repair
- Cardiac Ischemia and Reperfusion
- Innovation Policy and R&D
- Infective Endocarditis Diagnosis and Management
- Health, Environment, Cognitive Aging
- Genetic Associations and Epidemiology
- Sports injuries and prevention
- Eosinophilic Disorders and Syndromes
- Transplantation: Methods and Outcomes
- Mechanical Circulatory Support Devices
- Thermal Regulation in Medicine
- Cardiac Valve Diseases and Treatments
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Religious, Philosophical, and Educational Studies
Lahey Hospital and Medical Center
2022-2024
University Hospital in Motol
2018-2024
Charles University
2016-2024
Lahey Medical Center
2022-2024
Institute of Cardiology
2018
The genetic basis of hypertrophic cardiomyopathy (HCM) is complex, and the relationship between genotype status clinical outcome incompletely resolved.
The yield of genetic testing in hypertrophic cardiomyopathy (HCM) is variable. Mayo HCM Genotype Predictor score (Mayo Score) provides the pre-test probability a positive test. In original cohort Score patients, only 9 HCM-associated myofilament genes were evaluated. aim this study was to validate national and assess using next generation sequencing (NGS) evaluating up 229 genes.We included 336 consecutive unrelated patients (41% women, mean age: 53 ±15 years). We performed NGS-based genomic...
In spite of many years development and implementation pre-hospital advanced life support programmes, the survival rate out-of-hospital cardiac arrest (OHCA) used to be very poor.Neurologic injury from cerebral hypoxia is most common cause death in patients with OHCA.In past two decades, post-resuscitation care has developed new concepts aimed at improving neurological outcome after arrest.Systematic post-cardiac return spontaneous circulation, including induced mild therapeutic hypothermia...
BackgroundThe aim of this study was to evaluate short- and long-term outcomes related dose alcohol administered during septal ablation (ASA) in patients with hypertrophic obstructive cardiomyopathy (HOCM). Current guidelines recommend using 1–3 mL the target perforator artery, but recommendation is based more on practical experience interventionalists rather than systematic evidence.MethodsWe included 1448 used propensity score match who received a low-dose (1.0–1.9 mL) versus high-dose...
The genetic background of patients with hypertrophic cardiomyopathy (HCM) treated alcohol septal ablation (ASA) and its relationship to the outcomes are not known. We aimed investigate whether outcome genotype positive (G+) differs from negative (G-) ASA.We included 129 HCM (mean age 54±13 years) ASA in a tertiary cardiovascular center performed next generation sequencing (NGS) based genomic testing. All were followed-up three months after procedure yearly thereafter.A total 30 (23%) G+...
Hypertrophic cardiomyopathy (HCM) is a frequent inherited heart disease with an estimated prevalence of up to 1 in 200 individuals. In the majority cases, HCM as autosomal dominant genetic trait pathogenic variants detected sarcomeric proteins. Nevertheless, basis more complex. More than 2 000 mutations 27 genes have been described association HCM. The and allelic heterogeneity makes molecular analysis by conventional methods time-consuming expensive. Next Generation Sequencing (NGS)...
Článek shrnuje novinky v kardiologii roce 2023, které mají dopady pro klinickou praxi nejen kardiologů a internistů, ale i diabetologů, praktických lékařů dalších specializací. V úvodní části jsou diskutována aktuální doporučení vydaná Evropskou kardiologickou společností. Druhá, obsáhlejší část, diskutuje výběr nejvýznamnějších klinických studií publikovaných uplynulém roce.
Abstract Introduction Risk stratification and primary prevention of sudden cardiac death (SCD) in patients with hypertrophic cardiomyopathy (HCM) is a challenging discipline. When using current systems, there always compromise between sensitivity specificity. Objective In our pilot study, we sought to determine the incidence SCD effectiveness i.e., ESC HCM Risk-SCD score system individual major risk factors (RF) according ACC/AHA followed an expert center. Methods Patients were...
ABSTRACT Gene panels represent a widely used strategy for genetic testing in vast range of Mendelian disorders. While this approach aids reliable bioinformatic detection short coding variants, it fails to detect most larger variants. Recent studies have recommended the adoption pangenomes augment large variants from targeted sequencing, potentially providing diagnostic laboratories with possibility streamline work-ups and reduce costs. Here, we analyze large-scale cohort comprising 1,952...
Hypertrofická kardiomyopatie (HKMP) je s předpokládanou prevalencí 1/500 až 1/200 obyvatel jedním z nejčastějších geneticky podmíněných srdečních onemocnění. Pro HKMP charakteristická výrazná fenotypová i genotypová heterogenita. Pacienti by měli být komplexně a mutidisciplinárně vyšetřeni, aby nebyly přehlédnuty některé syndromické formy možností individualizované terapie. Při molekulárně genetickém vyšetření současnými metodami včetně sekvenování nové generace (NGS) u velké části pacientů...
Abstract Background We present an uncommon case of a patient with hypertrophic obstructive cardiomyopathy and idiopathic pulmonary fibrosis. The demonstrates the importance pre-transplant cardiology workup need interdisciplinary approach in diagnosing cause dyspnoea. Case summary 52-year-old male was diagnosed fibrosis 2019 gradually became oxygen dependent due to progression Bilateral lung transplantation recommended 2021. During workup, left ventricular outflow tract (LVOT) obstruction....
The use of beta-blockers in hypertrophic obstructive cardiomyopathy (HOCM) patients after alcohol septal ablation (ASA) lacks data support. We aimed to evaluate the effect metoprolol on exercise capacity, hemodynamic and laboratory parameters, quality life HOCM ASA.This was a prospective randomized single-center open-label crossover trial 21 ASA. Patients received no beta-blocker for two periods three months. endpoints were: peak oxygen uptake (pVO2), maximal left ventricular outflow tract...