Molecular genetic diagnostics for ventricular arrhythmias and sudden cardiac death syndromes

Herz ◽  
2017 ◽  
Vol 42 (5) ◽  
pp. 476-484 ◽  
Author(s):  
B. Stallmeyer ◽  
S. Dittmann ◽  
G. Seebohm ◽  
J. Müller ◽  
E. Schulze-Bahr
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Ventricular Arrhythmias ◽  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
Molecular Genetic Diagnostics

RESEARCH THE VALUE OF THE COMBINATION OF T WAVE ALTERNANS AND NT-PROBNT IN PREDICTING SUDDEN CARDIAC DEATH

2012 ◽  
pp. 74-83
Author(s):  
Anh Tien Hoang ◽  
Nhat Quang Nguyen
Keyword(s):  
Myocardial Infarction ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Ventricular Arrhythmias ◽  
Healthy Person ◽  
Treadmill Test ◽  
T Wave ◽  
T Wave Alternans

Background: Decades of research now link TWA with inducible and spontaneous clinical ventricular arrhythmias. This bench-to-bedside foundation makes TWA, NT-ProBNP a very plausible index of susceptibility to ventricular arrythmia, and motivates the need to define optimal combination of TWA and NT-ProBNP in predicting ventricular arrythmia in myocardial infarction patients. We research this study with 2 targets: 1. To evaluate the role of TWA in predicting sudden cardiac death in myocardial infarction patients. 2. To evaluate the role of NT-ProBNP in predicting sudden cardiac death in myocardial infarction patients 3. Evaluate the role of the combined NT-ProBNP and TWA in predicting sudden cardiac death in myocardial infarction patients. Methods: Prospective study with follow up the mortality in 2 years: 71 chronic myocardial infarction patients admitted to hospital from 5/2009 to 5/20011 and 50 healthy person was done treadmill test to caculate TWA; ECG, echocardiography, NT-ProBNP. Results: Cut-off point of NT-ProBNP in predicting sudden cardiac death is 3168 pg/ml; AUC = 0,86 (95% CI: 0,72 - 0,91); Cut-off point of TWA in predicting sudden cardiac death is 107 µV; AUC = 0,81 (95% CI: 0,69 - 0,87); NT-ProBNP can predict sudden cardiac death with OR= 7,26 (p<0,01); TWA can predict sudden cardiac death with OR= 8,45 (p<0,01). The combined NT-ProBNP and TWA in predicting ventricular arrythmia in heart failure patients: OR= 17,91 (p<0,001). Conclusions: The combined NT-ProBNP and TWA have the best predict value of sudden cardiac death in myocardial infarction patients, compare to NT-ProBNP or TWA alone

scholarly journals Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

2011 ◽  
Vol 4 (2) ◽  
pp. 110-122 ◽  
Author(s):  
Benjamin Meder ◽  
Jan Haas ◽  
Andreas Keller ◽  
Christiane Heid ◽  
Steffen Just ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Molecular Genetic Diagnostics ◽  
Generation Sequencing

Arrhythmias in dialysis patients

2021 ◽  
Vol 4 (57) ◽  
pp. 8-11
Author(s):  
Szymon Warwas ◽  
Marta Jagosz ◽  
Beata Średniawa ◽  
Michał Mazurek ◽  
Ewa Jędrzejczyk-Patej
Keyword(s):  
Cardiovascular Diseases ◽  
Sudden Cardiac Death ◽  
Kidney Disease ◽  
Cardiac Death ◽  
Ventricular Arrhythmias ◽  
Dialysis Patients ◽  
End Stage Kidney Disease ◽  
Common Cause ◽  
Conduction Disturbances ◽  
End Stage

The most common cause of death among dialysis patients with end-stage kidney disease are cardiovascular diseases. It is estimated that 18-27% of all deaths in dialysis patients are sudden cardiac deaths due to arrhythmias and conduction disturbances. The most common arrhythmias in dialysis patients, often leading to sudden death, are not ventricular arrhythmias but bradyarrhythmias. The article below discusses the most common arrhythmias in dialysis patients and methods of preventing sudden cardiac death in this group of patients.

Abstract 2415: Long-Term Baroreflex Activation Therapy Increases the Threshold for the Induction of Lethal Ventricular Arrhythmias in Dogs with Chronic Advanced Heart Failure

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Mengjun Wang ◽  
Valerio Zaca ◽  
Alice Jiang ◽  
Itamar Ilsar ◽  
Matthew Ebinger ◽  
...  
Keyword(s):  
Heart Failure ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Ventricular Arrhythmias ◽  
Lv Function ◽  
Baroreflex Activation Therapy ◽  
Increased Risk ◽  
Lv Remodeling ◽  
Activation Therapy

Heart failure (HF) is associated with a high incidence of ventricular tachycardia (VT) and fibrillation (VF). Patients with HF in whom these lethal arrhythmias can be induced by electrophysiological (EP) testing carry a high risk of sudden cardiac death. We showed that chronic electrical carotid baroreflex activation therapy (BAT) with the Rheos® System (CVRx, Inc.) improves LV function, attenuates LV remodeling and restores autonomic sympathetic-parasympathetic balance in dogs with HF. This study examined the effects of long-term therapy with BAT on the induction of VT or VF in dogs with coronary microembolization-induced HF (LV ejection fraction ~20%). Eleven dogs with HF underwent EP testing at baseline prior to therapy and after 3 and 6 months of therapy with BAT and again 6 weeks after withdrawal of BAT therapy (n = 7) or no therapy at all (Control, n = 4). Programmed ventricular stimulation was performed from the right ventricular apex and included delivery of up to 4 extrastimuli at progressively shorter coupling intervals (in steps of 10 msec). The extrastimuli were delivered following 8 ventricular paced beats with a drive cycle length between 600 and 200 msec. If a sustained monomorphic VT or VF could not be induced, isoproterenol infusion was initiated to increase the sinus rate by ~30% and the EP stimulation protocol was repeated. At baseline, a sustained VT or VF was induced in all 11 dogs (100%). After 3 and 6 months of follow-up, all Control dogs (100%) were induced into sustained VT or VF. After 3 months of BAT, only 3 of 7 dogs (43%) were induced into sustained VT or VF. After 6 months of BAT, only 2 of 7 dogs (29%) were induced into sustained VT or VF. Finally after withdrawal of BAT therapy, all dogs (100%) were again induced into systained VT or VF. In addition to improving LV function and attenuating LV remodeling, long-term monotherapy with BAT markedly increases the threshold for lethal ventricular arrhythmias in dogs with chronic HF. This is a marked improvement over inducibility of lethal arrhythmias seen in historical untreated controls. This benefit of BAT supports the continued exploration of this device as a therapeutic modality for treating patients with chronic HF and increased risk of sudden cardiac death.

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

METHODS OF MOLECULAR GENETIC DIAGNOSTICS IN THE SYSTEM OF EPIDEMIOLOGICAL SURVEILLANCE IN THE HOSPITAL

2018 ◽  
Vol 13 (4) ◽  
pp. 96-99
Author(s):  
O.A. ORLOVA ◽  
M.N. ZAMYATIN ◽  
N.A. UMZUNOVA ◽  
N.N. LASHENKOVA ◽  
V.G. AKIMKIN ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Epidemiological Surveillance ◽  
Genetic Diagnostics ◽  
Molecular Genetic Diagnostics

scholarly journals Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias

2015 ◽  
Vol 116 (08) ◽  
pp. 465-468
Author(s):  
L. Kotysova ◽  
S. Mattosova ◽  
J. Chandoga
Keyword(s):  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
Skeletal Dysplasias ◽  
Molecular Genetic Diagnostics

scholarly journals LEFT VENTRICULAR LEAD IMPLANTATION FOR DETECTION OF VENTRICULAR ARRHYTHMIAS IN PATIENT WITH IMPLANTABLE CARDIOVERTER DEFIBRILLATOR AND LOW R WAVE IN RIGHT VENTRICLE

2021 ◽  
pp. 17
Author(s):  
Keyword(s):  
Sudden Cardiac Death ◽  
Right Ventricle ◽  
Implantable Cardioverter Defibrillator ◽  
Cardiac Death ◽  
Ventricular Arrhythmias ◽  
Systolic Function ◽  
Left Ventricular ◽  
Icd Implantation ◽  
Cardioverter Defibrillator ◽  
Ventricular Lead

Dilated cardiomyopathy (DCM) is a disease characterised as left ventricular (LV) or biventricular dilatation with impaired systolic function. Regardless of underlying cause patients with DCM have a propensity to ventricular arrhythmias and sudden cardiac death. Implantable Cardioverter Defibrillator (ICD) implantation for these patients results in significant reduction of sudden cardiac death [1-3]. ICD devices may be limited by right ventricle (RV) sensing dysfunction with low RV sensing amplitude. We present a clinical case of patient with DCM, implanted ICD and low R wave sensing on RV lead.

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