Search results for "MYOPATHY"
showing 10 items of 352 documents
Ventricular Tachycardia and Early Fibrillation in Patients With Brugada Syndrome and Ischemic Cardiomyopathy Show Predictable Frequency-Phase Propert…
2015
[EN] Background¿ Ventricular fibrillation (VF) has been proposed to be maintained by localized high-frequency sources. We tested whether spectral-phase analysis of the precordial ECG enabled identification of periodic activation patterns generated by such sources. Methods and Results¿Precordial ECGs were recorded from 15 ischemic cardiomyopathy and 15 Brugada syndrome (type 1 ECG) patients during induced VF and analyzed in the frequency-phase domain. Despite temporal variability, induced VF episodes lasting 19.6±7.9 s displayed distinctly high power at a common frequency (shared frequency, 5.7±1.1 Hz) in all leads about half of the time. In patients with Brugada syndrome, phase analysis of …
An unusual case of sudden cardiac death during sexual intercourse
2018
The most common cause of sudden death during sexual intercourse in adults is heart disease, and it is usually the male, whereas the death of the woman is unusual. Generally, in these cases, death occurs as a result of cardiovascular disease. The authors report an unusual case of the sudden death of a young woman during sexual intercourse. The post-mortem investigations (autopsy, cardiac nuclear magnetic resonance and cardiac histology) demonstrated a previously undiagnosed arrhythmogenic right ventricular cardiomyopathy. The terminal cause of death was a malignant arrhythmia from arrhythmogenic right ventricular cardiomyopathy. This is the first report of a case in which sexual activity ca…
Anti-vimentin staining in muscle pathology
1993
The intermediate filaments of immature muscle fibres contain desmin and vimentin; vimentin is lacking in mature fibres. Regenerating fibres react with anti-vimentin antibodies and more intensely for desmin than mature fibres. The aim of the present study was to evaluate anti-vimentin staining for muscle pathology. Anti-vimentin-reactive fibres were found in 40 of 89 biopsies assessed. Fifteen patients with progressive destructive myopathy, infantile spinal muscular atrophy, clinically suspected Leigh's disease or unclassifiable congenital myopathy had between 1% and 95% vimentin-positive fibres. Less than 1% positive fibres were found in 25 patients with neuropathy with secondary myopathy o…
Sudden Cardiac and Noncardiac Death in Sports: Epidemiology, Causes, Pathogenesis, and Prevention
2018
AbstractAlthough few doubts remain that physical exercise should be widely promoted for maintenance of health and fitness, the risk of adverse events such as sudden death (especially due to cardiac causes, i.e., sudden cardiac death [SCD]) during exercise remains tangible. The overall risk of sudden death in athletes is relatively low (i.e., usually comprised between 0.1 and 38/100,000 person-years), and globally comparable to that of the general population. However, up to 20% of all sudden death cases are still recorded while exercising. The most frequent underlying disorders encountered in SCD are hypertrophic cardiomyopathy and coronary artery disease (CAD), representing three quarters o…
Incidence and Clinical Impact of Right Ventricular Involvement (Biventricular Ballooning) in Takotsubo Syndrome: Results From the GEIST Registry
2021
Background: The short- and long-term prognosis of Takotsubo syndrome (TTS) presenting with right ventricular (RV) involvement remains poorly understood. Research Question: What is the incidence and clinical outcome of RV involvement in TTS? Study Design and Methods: This study analyzed 839 consecutive patients with TTS (758 female subjects and 81 male subjects) in a multicenter registry. RV involvement was defined as wall motion abnormality of the RV free wall, with or without apical involvement. The median long-term follow-up was 2.1 years (interquartile range, 0.3-4.5 years). The primary outcome was in-hospital and out-of-hospital all-cause mortality. The secondary end point was a composi…
Infantile intranuclear rod myopathy.
1997
This report concerns three unrelated floppy infants, two girls and one boy, each biopsied at the age of 1 month. They were hypotonic since birth and required artificial ventilation. The two girls died at the ages of 4 and 3½ months, respectively, the boy is still alive at the age of 2 years, but requires assisted ventilation. Each of the three infants showed, by muscle biopsy, abundant intranuclear rods, the boy and one girl also had sarcoplasmic rods, which were not present in the other girl's muscle. Absence of sarcoplasmic rods, but the presence of intranuclear rods could also be documented in her autopsied muscle. Using an antibody against α-actinin, immunoelectron microscopy showed re…
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
2021
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to participate in protein synthesis. Seryl-tRNA synthetase (SARS1) is one of the cytosolic aaRSs and catalyzes serine attachment to tRNASer . SARS1 deficiency has already been associated with moderate intellectual disability, ataxia, muscle weakness, and seizure in one family. We describe here a new clinical presentation including developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death, in a…
Noonan-Syndrom mit der ungew�hnlichen Kombination von hypertropher Kardiomyopathie, konnatal bikuspider Aortenklappe und Aortenisthmusstenose mit hyp…
2004
Das Noonan-Syndrom ist gekennzeichnet durch kraniofaziale Dysmorphien wie Ptosis der Augenlider, Pterygium colli und durch einen tiefen nuchalen Haaransatz, durch Skelettveranderungen wie Kleinwuchs, Klinodaktylie, Kiel- und Trichterbrust und durch Organfehlbildungen, hauptsachlich Herzfehler, seltener einer Retentio testis und Nierenfehlbildungen. Das Noonan-Syndrom weist ein ahnliches Erscheinungsbild auf wie das Ullrich-Turner-Syndrom. Im Gegensatz zu dieser Chromosomenaberration sind aber Patienten beiderlei Geschlechts betroffen, sie weisen einen unauffalligen Chromosomensatz (46, XX bzw. 46, XY) auf und sind zeugungsfahig. Bei etwa der Halfte der Patienten mit Noonan-Syndrom bestehen …
P1475Impact of automatic screening and parasternal rights positions in the eligibility of patients with hypertrophic cardiomyopathy for subcutaneous …
2020
Abstract Background A high percentage of failures in the detection of QRS and T wave in patients (pts) with hypertrophic cardiomyopathy (HCM) have been reported. This finding would prevent them from being eligible for an implantable subcutaneous automatic defibrillator (S-ICD). However, recently 2 changes in the detection have been proposed, automatic screening and the use of right parasternal position of the lead. The aim of our work was to study if the elegibility proportion of patients was increased with both 2 advacements. Methods We included 31 patients (18 male)with a diagnosis of HCM and at least 1 risk factor for sudden death, in follow-up at the outdoor clinic of of 2 cardiology …
A case of arrhythmogenic right ventricular cardiomyopathy without ventricular arrhythmias
2014
Abstract We submit a case report of a 21-year-old man admitted to our emergency room for acute right heart failure. Arrhythmogenic right ventricular cardiomyopathy (ARVC) was diagnosed but ventricular arrhythmias have never been detected. On the basis of the diagnosis of ARVC and for the frequent episodes of symptomatic bradycardia, the patient underwent implantation of a biventricular defibrillator (CRT-D). In ARVC symptoms usually appear between the ages of 30–50. Especially in young patients the most common clinical presentation of ARVC are palpitations and syncope due to ventricular tachycardia with left bundle branch morphology. In cases of older patients in whom the disease has been d…