Q133288329
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Idiopathic ventricular fibrillation is diagnosed in survivors of sudden cardiac death that has been caused by ventricular fibrillation without known structural or electrical abnormalities, even after extensive investigation. It is a common cause of sudden death in young adults. Although idiopathic ventricular fibrillation is a diagnosis of exclusion, in many cases only a partial investigation algorithm is performed. The aim of this review is to present a comprehensive diagnostic evaluation algorithm with a focus on diagnostic assessment of inherited arrhythmic syndromes and genetic background.
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Human induced pluripotent stem cell (iPSC) lines were generated from peripheral blood mononuclear cells (PBMCs) isolated from two related patients diagnosed with either idiopathic ventricular fibrillation or catecholaminergic polymorphic ventricular tachycardia, carrying an unknown variant in the RYR2 gene, c.14201A>G (p.Y4734C) and one healthy related individual. Reprogramming was done using a commercially available Epi5 Reprogramming Kit. The pluripotency of the iPSC lines was verified by the expression of pluripotency markers and by their capacity to differentiate into all three embryonic germ layers in vitro. These iPSC lines are available for functional analysis and in vitro studies of RYR2 channelopathy.
- MeSH
- buněčná diferenciace MeSH
- buněčné linie MeSH
- dospělí MeSH
- fibrilace komor * genetika MeSH
- indukované pluripotentní kmenové buňky * metabolismus MeSH
- katecholaminergní polymorfní komorová tachykardie MeSH
- komorová tachykardie * genetika metabolismus MeSH
- lidé MeSH
- ryanodinový receptor vápníkového kanálu * genetika metabolismus MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Traditionally, aborted cardiac arrest (ACA) due to documented ventricular fibrillation (VF) in the absence of structural heart disease has been termed idiopathic VF. By careful evaluation, a specific etiology can be found in a substantial proportion of patients. The aim of this survey was to assess the yield of an advanced diagnostic work-up to reveal a causative etiology in a real-life clinical setting. Patients from the University Hospital Brno's ACA database were analyzed (514 patients in total). Forty-six patients (31 males) fulfilled the inclusion criteria, which were: (1) absence of structural pathology on echocardiography; (2) absence of coronary artery disease; and (3) absence of reversible cause of ACA. The diagnostic work-up consisted in cardiac magnetic resonance imaging, stress testing, sodium channel blocker challenge, and genetic testing according to the availability of the method and patient compliance. A specific disease was found in 17 individuals (37.0%), although at least one diagnostic step was refused by 13 patients (28.3%). True idiopathic VF was confirmed in 7 patients (15.2%), for whom the entire diagnostic work-up did not reveal any specific pathology. Our real-life survey shows that, even with an incomplete diagnostic work-up (due to the unavailability of a particular method or variable patient compliance), a specific diagnosis can be identified in more than one third of the cases of "idiopathic" VF, which can thus enable targeted treatment and family screening.
- MeSH
- dospělí MeSH
- echokardiografie MeSH
- fibrilace komor * diagnóza MeSH
- genetické testování metody MeSH
- lidé středního věku MeSH
- lidé MeSH
- magnetická rezonanční tomografie metody MeSH
- senioři MeSH
- zátěžový test MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Akutní koronární syndrom (AKS) vyjádřený jako infarkt myokardu s elevacemi úseku ST na EKG je ve většině případů způsoben trombotickou okluzí koronární tepny. Ve výjimečných případech se na ischemii myokardu podílí i extrakardiální onemocnění. Prezentujeme případ pacienta přijatého na naši kliniku s typickými bolestmi na hrudi a elevacemi úseku ST na EKG. Urgentní selektivní koronarografie prokázala alteraci toku periferie koronární tepny útlakem zvenčí. Následně byla echokardiograficky detekována tumorózní masa v perikardu jako příčina útlaku koronární arterie a následné ischemie myokardu. Příčinou byl karcinom dolního laloku levé plíce. Konečná diagnóza byla stanovena jako infarkt myokardu II. typu
Acute coronary syndrome such as myocardial infarction with ST elevations on the EcG, is mostly caused by thrombotic coronary artery occlusion. In rare cases, extracardiac disease can be a cause of myocardial ischemia. We present a case of a patient admitted to our department with typical chest pain and ST elevation on the EcG. urgent selective coronary angiography proved an alteration in the flow of the periphery of the coronary artery by compression from outside. by echocardiography we detected tumorous mass in the pericardium as the cause of myocardial ischemia. Primary origin was cancer of the lower lobe of the left lung. Final diagnosis was myocardial infarction type 2.