scholarly journals Emery-Dreifuss muscular dystrophy presenting as a heart rhythm disorders in children

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
T S Kovalchuk ◽  
E V Yakovleva ◽  
S G Fetisova ◽  
T L Vershinina ◽  
T M Pervunina ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Atrial Flutter ◽  
Sinus Node ◽  
Heart Rhythm ◽  
Sinus Node Dysfunction ◽  
Supraventricular Arrhythmias ◽  
Heart Rhythm Disorders ◽  
The Mean

Abstract Introduction Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects, sinus node dysfunction. Cardiac phenotype typically arises years after skeletal muscle presentations, though, can be severe and life-threatening. The disease usually manifests during the third decade of life with elbow joint contractions and progressive muscle weakness and atrophy. Objective To present our clinical experience of diagnosis and treatment of arrhythmias in children with Emery-Dreifuss muscular dystrophy Materials and methods We enrolled 5 patients with different forms of EDMD (X-linked and autosomal dominant) linked to the mutations in EMD and LMNA genes, presented with early onset of cardiac abnormalities and no leading skeletal muscle phenotype. The predominant forms of cardiac pathology were atrial flutter, atrial fibrillation and conduction disturbances that progress over time. Clinical examination included physical examination, 12-lead electrocardiography, Holter ECG monitoring (HM), transthoracic echocardiography, neurological examination and biochemical and hormone tests. Also we performed CMR, electrophysiological study (EPS), treadmill test of some patients. One patient underwent an endomyocardial biopsy to exclude inflammatory heart disease. Target sequencing was performed using a panel of 108 or 172 genes Results We observed five patients with EDMD and cardiac debut during first-second decades of life: 3 with 1st subtype (variants in EMD gene) and 2 with 2nd subtype (variants in LMNA gene). All patients were males. The mean age of cardiac manifestation was 13,2±3,11 (from 9 to 16 y.o.). The mean follow-up period was 7,4±2,6 years. All patients presented with sinus node dysfunction and four out of five with AV conduction abnormalities. The leading arrhythmic phenotypes included various types of supraventricular arrhythmias: multifocal atrial tachycardia (AT) (n=4), premature atrial captures (PACs) (n=4), atrial flutter, (AF) (n=3), atrial fibrillation (AFib) (n=3) and AV nodal recurrent tachycardia (AVRNT). Heart rhythm disorders were the first manifestation in all three patients with 1st EDMD subtype. Radiofrequency ablation was performed in 2 patients, one of them received permanent pacemaker implantation. Conclusions In conclusion, while being the rare cases, heart rhythm disorders can represent the first and for a long time, the only clinical symptom of EDMD even in the pediatric group of patients. Therefore, thorough laboratory and neurological screening along with genetic studies, are of importance in each pediatric patient presenting with complex heart rhythm disorders of primary supraventricular origin to exclude EDMD or other neuromuscular disorders. FUNDunding Acknowledgement Type of funding sources: None.

scholarly journals Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children

2021 ◽  
Vol 8 ◽  
Author(s):  
Tatiana Kovalchuk ◽  
Elena Yakovleva ◽  
Svetlana Fetisova ◽  
Tatiana Vershinina ◽  
Viktoriya Lebedeva ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Case Reports ◽  
Sinus Node ◽  
Heart Rhythm ◽  
Cardiac Abnormalities ◽  
Progressive Muscle Weakness ◽  
Cardiac Phenotype ◽  
Cardiac Symptoms ◽  
Heart Rhythm Disorders

Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction. Cardiac phenotype typically arises years after skeletal muscle presentation, though, could be severe and life-threatening. The defined clinical manifestation with joint contractures, progressive muscle weakness and atrophy, as well as cardiac symptoms are observed by the third decade of life. Still, clinical course and sequence of muscle and cardiac signs may be variable and depends on the genotype. Cardiac abnormalities in patients with EDMD in pediatric age are not commonly seen. Here we describe five patients with different forms of EDMD (X-linked and autosomal-dominant) caused by the mutations in EMD and LMNA genes, presented with early onset of cardiac abnormalities and no prominent skeletal muscle phenotype. The predominant forms of cardiac pathology were atrial arrhythmias and conduction disturbances that progress over time. The presented cases discussed in the light of therapeutic strategy, including radiofrequency ablation and antiarrhythmic devices implantation, and the importance of thorough neurological and genetic screening in pediatric patients presenting with complex heart rhythm disorders.

Atrial tachyarrhythmias in bradycardia–tachycardia syndrome: characterization and evolution

ESC CardioMed ◽  
2018 ◽  
pp. 1954-1957
Author(s):  
Luigi Padeletti ◽  
Roberto De Ponti
Keyword(s):  
Atrial Fibrillation ◽  
Atrial Flutter ◽  
Sinus Node ◽  
Ventricular Myocardium ◽  
Sinus Node Dysfunction ◽  
Ventricular Pacing ◽  
Atrial Tachyarrhythmia ◽  
Atrial Tachyarrhythmias ◽  
Node Disease ◽  
Sinus Node Disease

The association of sinus node disease and atrial tachyarrhythmias characterizes the bradycardia–tachycardia syndrome, which may result in an increased risk of heart failure, stroke, and death. Ageing and several cardiac and extracardiac diseases, which have the potential to affect both the atrial and the ventricular myocardium, can manifest their influence predominantly on the atria, leading to an atrial cardiomyopathy. In these cases, the same pathological process which leads to sinus node dysfunction can create a favourable substrate also for atrial tachyarrhythmias, which, if not present at the time of the initial diagnosis of the sinus node disease, can occur with an increasing prevalence during follow-up. In younger patients with no evident structural heart disease, a bradycardia–tachycardia syndrome may be the first clinical and unexpected manifestation of a still undiagnosed inherited genetic disease and therefore a specific diagnostic workup is necessary. In bradycardia–tachycardia syndrome, the most frequently encountered atrial tachyarrhythmia is atrial fibrillation, while typical atrial flutter is rarer. In peculiar subgroups of patients, other atrial tachyarrhythmias, such as atypical atrial flutter, macroreentrant or focal atrial tachycardia, may be present. In bradycardia–tachycardia syndrome, the evolution of atrial tachyarrhythmias clearly shows a worsening with an prevalence of associated atrial tachyarrhythmia over time. Pharmacological therapy for arrhythmias is of limited use, due to the concomitant sinus node dysfunction. The modality of pacing used to manage the sinus node disease has to be carefully chosen to minimize the evolution of atrial tachyarrhythmias. In fact, while ventricular pacing increases the incidence of atrial fibrillation and stroke, dual-chamber pacing with a specific algorithm for ventricular pacing minimization and prevention and treatment of atrial tachyarrhythmias reduces a composite endpoint of evolution to permanent atrial fibrillation, hospitalization, and death.

scholarly journals The impact of the acceptance of illness on the quality of life of patients with atrial fibrillation

2021 ◽  
Vol 20 (Supplement_1) ◽  
Author(s):  
B Jankowska-Polanska ◽  
D Kasperczak ◽  
N Swiatoniowska-Lonc ◽  
J Polanski
Keyword(s):  
Quality Of Life ◽  
Atrial Fibrillation ◽  
Heart Rhythm ◽  
Well Being ◽  
Supraventricular Arrhythmia ◽  
Heart Rhythm Disorders ◽  
The Mean ◽  
Acceptance Of Illness ◽  
The Impact

Abstract Funding Acknowledgements Type of funding sources: None. Background. Atrial fibrillation (AF) is the most common supraventricular arrhythmia. AF and the complications associated with it interfere with the physical, mental and social well-being of a person, thus affecting the quality of life. An important factor affecting the quality of life of patients with AF is the acceptance of illness (AI). In spite of the large problem related to this subject, the analysis of the relation between the acceptance of illness and the quality of life of patients with AF is insufficient. The aim of the study was to assess the impact of the acceptance of illness on the quality of life of patients with AF. Material and methods. 84 patients (including 51 men) aged 57.86 ± 17.72 years hospitalized in the cardiology department due to heart rhythm disorders. Standardized tools were used in the study: Acceptance of Illness Scale (AIS) to assess the acceptance of illness and Arrhythmia-Specific questionnaire In Tachycardia and Arrhythmia (ASTA) to assess quality of life. Results. The majority of patients were secondary educated (64.27%), lived in a city (78.58%), were inactive (57.15%), were hospitalized 3-5 times (42.85%), had a cardiostimulator (23.80%) or underwent ablation (22.62%) during the last year. The average result of the acceptance of illness was 27.67 ± 7.70. 48.8% of patients had a high level of the acceptance of illness, 38.09% average, and 13.11% did not accept their illness. The mean result of quality of life for the whole studied group was (ASTA III) 25.64 ± 8.64. As regards the severity of symptoms (ASTA II) the mean result was 17.15 ± 5.89. Correlation analysis showed that the higher the level of the acceptance of illness the higher the quality of life (r = 0.640; p = 0.002) and lower the severity of AF symptoms (r=-0.51, p < 0.001). Conclusions. Patients with AF present a moderate level of disease acceptance and quality of life. The acceptance of illnessis the independent predictor and significantly increases quality of life of patients with AF.

scholarly journals Atrial Flutter: up‐to‐date Problem Evaluation with Clinical Positions

Kardiologiia ◽  
2020 ◽  
Vol 60 (1) ◽  
pp. 70-80
Author(s):  
K. V. Potapova ◽  
V. P. Nosov ◽  
L. Y. Koroleva ◽  
N. V. Amineva
Keyword(s):  
Atrial Fibrillation ◽  
Early Diagnosis ◽  
Sinus Rhythm ◽  
Atrial Flutter ◽  
Heart Rhythm ◽  
Comparative Aspect ◽  
Heart Rhythm Disorders ◽  
Potential Risks ◽  
Surgical Treatments

The review provides current ideas about the etiology and prevalence of atrial flutter (AF), mechanism and substrate of arrhythmogenesis, and principles of clinical and electrophysiological classification of this arrhythmia. Methods for conservative and surgical treatments of AF, including their comparative aspect, are described in detail. The review presented recent data on efficacy and potential risks of different approaches to reversing the arrhythmia. The authors indicated a need for early diagnosis and strict control of the sinus rhythm in AF, which would help a successful intervention not only to completely cure the existing arrhythmia but also to prevent other heart rhythm disorders, primarily atrial fibrillation.

Sinus Node Injury as a Result of Superior Vena Cava Isolation during Catheter Ablation for Atrial Fibrillation and Atrial Flutter

2010 ◽  
Vol 34 (2) ◽  
pp. 163-170 ◽  
Author(s):  
GANG CHEN ◽  
JIAN ZENG DONG ◽  
XING PENG LIU ◽  
XIN YONG ZHANG ◽  
DE YONG LONG ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Catheter Ablation ◽  
Atrial Flutter ◽  
Superior Vena Cava ◽  
Superior Vena ◽  
Sinus Node ◽  
Vena Cava

scholarly journals Prevalence of arrhythmias in dogs examined between 2008 and 2014

2017 ◽  
Vol 61 (1) ◽  
pp. 103-110 ◽  
Author(s):  
Agnieszka Noszczyk-Nowak ◽  
Marcin Michałek ◽  
Ewelina Kałuża ◽  
Alicja Cepiel ◽  
Urszula Pasławska
Keyword(s):  
Atrial Fibrillation ◽  
Body Weight ◽  
Retrospective Analysis ◽  
Ventricular Arrhythmias ◽  
Heart Rhythm ◽  
Supraventricular Arrhythmias ◽  
Premature Ventricular Complexes ◽  
Labrador Retrievers

Abstract Introduction: The prevalence of arrhythmias in dogs and the influence of sex, breed, age, and body weight were analysed over a seven-year span. Material and Methods: In total, 1189 referrals for cardiological examination by electrocardiography were received at one academic centre in Poland between 2008 and 2014. The largest proportion of the examined dogs were cross-breeds with body weight below 25 kg (n = 153, 12.87%), followed by German Shepherds (n = 122, 10.26%), Labrador Retrievers (n = 68, 5.72%), Yorkshire Terriers (n = 63, 5.3%), and Boxers (n = 60, 5.05%). Retrospective analysis was made of 1201 standing or right recumbent electrocardiograms without pharmacological sedation. The prevalence of arrhythmias was examined in terms of sex, age, body weight, and breed of the dogs. Results: A total of 630 (52.46%) electrocardiograms showed no signs of arrhythmia, but 96 (7.99%) and 475 (39.55%) pointed to physiological and pathological arrhythmias respectively. The most commonly diagnosed type was atrial fibrillation with 33.68% incidence, followed by ventricular arrhythmias (28%), sinus pauses (27.58%), supraventricular arrhythmias (24%), and atrioventricular blocks (22.95%). Pathological arrhythmias were most commonly found in male dogs and in German Shepherds. Conclusions: Atrial fibrillation predominated, followed by premature ventricular complexes. Male dogs were generally more prone to heart rhythm disturbances.

scholarly journals Feasibility of remote support for electrophysiological ablation procedures during CoVid-19 pandemics

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
A Muessigbrodt ◽  
F Demoniere ◽  
S Finoly ◽  
M Mommarche ◽  
J Inamo
Keyword(s):  
Atrial Flutter ◽  
Medical Training ◽  
Human Life ◽  
Heart Rhythm ◽  
Left Ventricular ◽  
Technical Support ◽  
Right Atrial ◽  
Global Challenge ◽  
Heart Rhythm Disorders ◽  
Technical Support Staff

Abstract   The COVID-19 pandemics is a global challenge with a huge impact on medicine, politics, economy, education, travel and many other aspects of human life. The treatment of heart rhythm disorders has also been affected by the disease itself and by restrictions in order to constrain the spread of the virus. Catheter ablations of cardiac arrhythmias are nowadays frequently guided by electro-anatomic mapping systems. Technical staff with medical training, or medical staff with technical training, is needed to assist the operator. Travel restrictions due to current COVID-19 pandemics have limited the in person availability for technical support staff. To overcome these limitations we explored the feasibility of remote support with an internet based communication platform. A total of 9 patients (87,5% male, mean age 66,6 years) with different arrhythmias (atrial fibrillation, left atrial flutter, typical right atrial flutter, left ventricular tachycardia), having undergone ablation procedures between October 2020 and February 2021, were included. Acute procedural success was obtained in 9 out of 9 procedures. No complications occurred. Our experience with remote support for electro-anatomic mapping for complex electrophysiological ablation procedures, show the feasibility and safety of this approach. It increases the availability of technical support at reduced costs and a reduced CO2 footprint. Remote support for electro-anatomic mapping may therefore facilitate continuous care for patients with arrhythmias during the COVID-19 pandemics. Due to its advantages beyond COVID-19 pandemics related problems, it will likely play a greater role in the future. FUNDunding Acknowledgement Type of funding sources: None.

scholarly journals HAS-BLED scor system for the assessment of risk of breathing of patients on oral anticoagulant therapy // HAS-BLED skor sistem bodovanja za procjenu rizika od krvarenja pacijenata na oralnoj antikoagulantnoj terapiji

2018 ◽  
Vol 5 (1) ◽  
pp. 11
Author(s):  
Daniela Dobrovoljski
Keyword(s):  
Atrial Fibrillation ◽  
Oral Anticoagulant ◽  
Oral Anticoagulant Therapy ◽  
Vitamin K Antagonists ◽  
Oral Anticoagulants ◽  
Heart Rhythm ◽  
Clinical Problem ◽  
Coagulation Factors ◽  
Heart Rhythm Disorders ◽  
Anticoagulant Drugs

Oral anticoagulant drugs (OALs) are effective agents in the prevention and treatment of thromboembolic complications. However, despite standardization and application progression, OALs represent a significant clinical problem because they are small-therapeutic medicines that easily interact with food and medicine, which can substantially affect the increased or weakened therapeutic effect. Oral anticoagulants are 4-hydroxycoumarin derivatives and vitamin K antagonists, and their pharmacological activity is based on inhibition of the synthesis of coagulation factors in the liver. These drugs are effective in the prevention of venous thromboembolism, acute myocardial infarction (AIM), heart rhythm disorders by type of atrial fibrillation, stroke prevention, and the like. The most important and clinically commonly undesirable effect of OAL is bleeding. The risk of bleeding is greatest during the introduction of the drug in therapy and for the first few months of the onset of therapy. HAS-BLED scor is a skoring system developed to estimate the 1-year risk of major bleeding in patients with atrial fibrillation and is also used for other indications.

scholarly journals Problem of prescribing anticoagulant therapy in patients with atrial fibrillation on the regional level

2020 ◽  
pp. 19-25
Author(s):  
M. G. Nazarkina ◽  
V. V. Stolyarova ◽  
D. A. Karpova
Keyword(s):  
Atrial Fibrillation ◽  
Anticoagulant Therapy ◽  
Oral Anticoagulants ◽  
Significant Proportion ◽  
Heart Rhythm ◽  
Regional Level ◽  
Thromboembolic Complications ◽  
Constant Form ◽  
Heart Rhythm Disorders ◽  
The Republic

Introduction. Cardiovascular diseases are the leading cause of morbidity and mortality worldwide, with heart rhythm disorders accounting for a significant proportion of them. Atrial fibrillation (AF) is an arrhythmia that poses a risk of thromboembolic complications and is difficult to treat with ongoing preventive anticoagulant therapy. Aim of the study. To analyze the prescription of anticoagulant therapy to patients with AF on the regional level. Methods and results. The study included 72 patients with the nonvalvular form of AF (from 41 to 82 years old) of the Department of Rhythm and Conductivity Abnormalities of the State Budgetary Institution of the Republic of Mordovia RCH № 4 for 2019. Three groups were singled out depending on the AF form: the first one – patients with the constant form (n = 22), the second one (n = 24) – with the persistent form, the third one (n = 24) – with the paroxysmal form. The risk of thromboembolic complications was assessed using the CHA2DS2-VASc scale and hemorrhagic complications using the HAS-BLED scale. All patients had a high risk of thromboembolism (index above 2 points), which reflects multiple risk factors and indicates the need for oral anticoagulants (OAC). According to HAS-BLED scale calculations, the risk of haemorrhagic complications was low in most patients (2 or less points) – there was no significant increase in the risk of bleeding, but careful monitoring is required. Analysis of the results revealed that only 54% of patients took OAC, despite the fact that all patients were shown anticoagulant therapy. When analyzing the cases of patients who did not take anticoagulants, it was found that 23% of patients, despite the doctor’s recommendations, refused to take the drugs, 47% of patients justified the inability to control IHR and 30% were unable to purchase expensive new OAC. Conclusion. Despite the recommendations for the management of patients with atrial fibrillation, only 54% were prescribed oral anticoagulants.

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