scholarly journals The novel TRPM4 c.448G>T variant is associated with familial conduction disorders, cardiomyopathy, and sudden cardiac death

2021 ◽  
Author(s):  
Boldizsar Kovacs ◽  
Stephan Winnik ◽  
Argelia Medeiros-Domingo ◽  
Sarah Costa ◽  
Guan Fu ◽  
...  
2013 ◽  
Vol 6 (6) ◽  
pp. 615-623 ◽  
Author(s):  
Andreas Brodehl ◽  
Mareike Dieding ◽  
Bärbel Klauke ◽  
Eric Dec ◽  
Shrestha Madaan ◽  
...  

2017 ◽  
Vol 19 (3) ◽  
pp. 28-33
Author(s):  
Sergei V Voronin ◽  
Vadim V Tyrenko ◽  
Dmitry V Cherkashin ◽  
Sergei G Bologov

Objective. Stratify the risk of sudden cardiac death in the military, depending on the findings of the medical examination of cardiac rhythm and conduction disorders. Materials and methods. An analysis of medical documents of 254 servicemen, recognized by the military medical commission (therapeutic) profile of the S. M. Kirov Military Medical Academy, that are limited to fit and not fit for military service, was conducted. Based on the classification of the risk of sudden cardiac death, proposed by R. Fogoros, the stratified military personnel were assessed for the risk of sudden cardiac death, based on the cardiac arrhythmias. Results of the study. According to the results of the work, it is shown that every third serviceman, recognized by the military medical commission as being limited to fit or not fit for military service, was recognized as such because of his cardiac arrhythmias and conduction. Only 13.2% of military personnel with cardiac rhythm and conduction disorders had a structurally normal heart. 51.8% of the surveyed military personnel with cardiac arrhythmias and conduction had a low risk of sudden death, 42.2% had an average risk of sudden cardiac death, and 6% had a high risk. Conclusion. The system of medical examination of servicemen based on the results of the survey allows stratification of military personnel in the risk of sudden cardiac death and, subject to this, make a legally meaningful decision on its category of fitness for military service (4 tables, bibliography: 8 refs).


2018 ◽  
Vol 4 (4) ◽  
pp. 197-200
Author(s):  
Aura-Gabriela Casu

Abstract Sudden cardiac death in children is one of the most devastating conditions that can be encountered in acute cardiac care. Intracardiac device therapy, providing prompt and effective treatment in malignant ventricular arrhythmia or in severe conduction abnormalities, is a promising tool to reduce the incidence of this fatal condition. However, the implementation of device-based therapy in the pediatric population is currently limited by the lack of clinical studies on large number of subjects. As a result, indications for device therapy in pediatric patients are still unclear in many circumstances. There are also several particularities related to device implantation in pediatric age, such as the somatic growth leading to a mismatch between chamber size and lead length, or the difficulties of implantation technique in children with small body weight. This study aims to present an update on the current advantages and limitations of device-based therapy for treating severe malignant arrhythmia or conduction disorders in children at risk for sudden cardiac death.


2021 ◽  
Vol 8 ◽  
Author(s):  
Paula Morlanes-Gracia ◽  
Guido Antoniutti ◽  
Jorge Alvarez-Rubio ◽  
Laura Torres-Juan ◽  
Damian Heine-Suñer ◽  
...  

The NKX2-5 gene encodes for a transcription factor crucial for cardiac cell differentiation and proliferation. It was the first gene associated with congenital heart disease (CHD) in humans and has been linked to conduction disorders or cardiomyopathies. However, an overlapping phenotype is not frequent in the literature. We describe a family with a novel missense mutation in the NKX2-5 gene (p.Gln181Pro) with numerous antecedents with atrial septal defect (ASD), left ventricular non-compaction (LVNC), conduction disease, and sudden cardiac death (SCD).


InterConf ◽  
2021 ◽  
pp. 178-186
Author(s):  
Olena Makharynska ◽  
Yyliia Borysova ◽  
Irina Oktiabrova ◽  
Irina Shokalo

The high prevalence of WPW syndrome among young people dictates the relevance of this topic studying. In the register of causes of sudden cardiac death among athletes, the proportion of this syndrome is about 1%. The frequency of SCD in professional sportsmen cluster of population, according to various authors, varies from 2.3 to 6.5 cases per 100 thousand active athletes that in 2.4 times higher than in the general population.On example of the clinical case demonstrated in this article the importanceof a precise examination of athletes and amateurs, withdetected WPW phenomenon/syndrome, regardless of presencesymptoms, especially on continuous anabolic steroids therapy background. Therefore, it is necessary to control not only the physical activity of people involved in sports, but also the use of pharmacological drugs in preparation for competitions.


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