scholarly journals Cardiac phenotype in ATP1A3-related syndromes

Neurology ◽  
2020 ◽  
Vol 95 (21) ◽  
pp. e2866-e2879
Author(s):  
Simona Balestrini ◽  
Mohamad A. Mikati ◽  
Reyes Álvarez-García-Rovés ◽  
Michael Carboni ◽  
Arsen S. Hunanyan ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Rapid Onset ◽  
Conduction Delay ◽  
Conduction Abnormality ◽  
Alternating Hemiplegia Of Childhood ◽  
Cardiac Phenotype ◽  
Sequence Of Events ◽  
Cardiac Assessment ◽  
Life Threatening

ObjectiveTo define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes.MethodsPatients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/−) to determine the sequence of events in seizure-related cardiac death.ResultsNinety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnormalities were found in 52 of 87 (60%) with AHC, 2 of 3 (67%) with CAPOS, and 6 of 9 (67%) with RDP. Serial ECGs showed dynamic changes in 10 of 18 patients with AHC. The first Holter ECG was abnormal in 24 of 65 (37%) cases with AHC and RDP with either repolarization or conduction abnormalities. Echocardiography was normal. Cardiac intervention was required in 3 of 98 (≈3%) patients with AHC. In the mouse model, resting ECGs showed intracardiac conduction delay; during induced seizures, heart block or complete sinus arrest led to death.ConclusionsWe found increased prevalence of ECG dynamic abnormalities in all ATP1A3-related syndromes, with a risk of life-threatening cardiac rhythm abnormalities equivalent to that in established cardiac channelopathies (≈3%). Sudden cardiac death due to conduction abnormality emerged as a seizure-related outcome in murine Atp1a3-related disease. ATP1A3-related syndromes are cardiac diseases and neurologic diseases. We provide guidance to identify patients potentially at higher risk of sudden cardiac death who may benefit from insertion of a pacemaker or implantable cardioverter-defibrillator.

Abstract 13286: Non-Specific Intraventricular Conduction Delay and Risk of Sudden Death

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Audrey Uy-Evanado ◽  
Carmen Teodorescu ◽  
Kyndaron Reinier ◽  
Kumar Narayanan ◽  
Harpriya Chugh ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
General Population ◽  
Left Bundle Branch Block ◽  
Cardiac Death ◽  
Conduction Delay ◽  
Bundle Branch Block ◽  
Intraventricular Conduction ◽  
Qrs Morphology ◽  
Qrs Duration ◽  
Intraventricular Conduction Delay

Introduction: We and others have reported an independent association between prolonged QRS duration and risk of sudden cardiac death (SCD) in the general population. Left and right bundle branch block have been studied previously, but there is little information regarding non-specific intraventricular conduction delay and risk of SCD. Hypothesis: Completed conduction defects, including non-specific IVCD, are associated with increased SCD risk. Methods: Sudden cardiac death cases and controls from an ongoing large population based study in the Northwestern US (2002 to 2010) were included if age ≥ 35 years with a non-paced 12-lead ECG (recorded prior and unrelated to SCD in cases). QRS morphology was subcategorized as normal, intermediate [left anterior fascicular block (LAFB), left posterior fascicular block (LPFB), and incomplete right or left bundle branch block (IRBBB/ILBBB)] or completed conduction defects [left bundle branch block (LBBB), right bundle branch block (RBBB), or nonspecific intraventricular conduction delay (IVCD)]. Comparisons were conducted using chi-square tests for categorical variables and independent samples t-tests for continuous variables. Logistic regression was used to evaluate the association of QRS morphology with SCD. Results: We evaluated 761 SCD cases (64% male) and 539 controls (65% male). Cases were significantly older (69.7 vs 66.3 years, p<0.0001) with greater QRS duration (102 vs. 98 ms, p=0.001). For conduction categories, intermediate or completed conduction defects were significantly more common in cases whereas normal QRS morphology was more common among controls (p=0.01). And for specific morphology overall, QRS morphology patterns differed between cases and controls (p=0.03); abnormal QRS morphologies were more frequent in cases than controls except for LAFB. After adjustment for age and gender, however, only a finding of LBBB or non-specific IVCD remained a significant predictor of SCD [OR 1.34 (95% CI 1.03-1.75)]. Conclusions: LBBB and non-specific IVCD, but not RBBB, are significant predictors of SCD in the general population. These findings contribute to the utility of the 12-lead EKG for SCD risk stratification.

scholarly journals Dealing with Sudden Cardiac Death: Who Deserves Device Implantation

2019 ◽  
Vol 5 (1 (P)) ◽  
pp. 12
Author(s):  
Dicky Armein Hanafy
Keyword(s):  
Heart Failure ◽  
Coronary Heart Disease ◽  
Heart Disease ◽  
Sudden Cardiac Death ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Cardiac Insufficiency ◽  
Resynchronization Therapy ◽  
Icd Implantation ◽  
Life Threatening

Sudden cardiac death is one of the leading causes of death in the western industrial nations. Most people are affected by coronary heart disease (coronary heart disease, CHD) or heart muscle (cardiomyopathy). These can lead to life-threatening cardiac arrhythmias. If the heartbeat is too slow due to impulse or conduction disturbances, cardiac pacemakers will be implanted. High-frequency and life-threatening arrhythmias of the ventricles (ventricular tachycardia, flutter or fibrillation) cannot be treated with a pacemaker. In such cases, an implantable cardioverter-defibrillator (ICD) is used, which additionally also provides all functions of a pacemaker. The implantation of a defibrillator is appropriate if a high risk of malignant arrhythmias has been established (primary prevention). If these life-threatening cardiac arrhythmias have occurred before and are not caused by a treatable (reversible) cause, ICD implantation will be used for secondary prevention. The device can stop these life-threatening cardiac arrhythmias by delivering a shock or rapid impulse delivery (antitachycardic pacing) to prevent sudden cardiac death. Another area of application for ICD therapy is advanced heart failure (heart failure), in which both main chambers and / or different wall sections of the left ventricle no longer work synchronously. This form of cardiac insufficiency can be treated by electrical stimulation (cardiac resynchronization therapy, CRT). Since the affected patients are also at increased risk for sudden cardiac death, combination devices are usually implanted, which combine heart failure treatment by resynchronization therapy and the prevention of sudden cardiac death by life-threatening arrhythmia of the heart chambers (CRT-D device). An ICD is implanted subcutaneously or under the pectoral muscle in the area of the left collarbone. Like pacemaker implantation, ICD implantation is a routine, low-complication procedure today.

Secondary prevention of sudden cardiac death in ischaemic cardiomyopathy

ESC CardioMed ◽  
2018 ◽  
pp. 2337-2341
Author(s):  
Jens Cosedis Nielsen ◽  
Jens Kristensen
Keyword(s):  
Heart Failure ◽  
Cardiac Arrest ◽  
Heart Disease ◽  
High Risk ◽  
Sudden Cardiac Death ◽  
Secondary Prevention ◽  
Cardiac Death ◽  
Cardioverter Defibrillator ◽  
Ischaemic Cardiomyopathy ◽  
Life Threatening

The most common reason for sudden cardiac death is ischaemic heart disease. Patients who survive cardiac arrest are at particularly high risk of recurrent ventricular arrhythmia and sudden cardiac death, and are candidates for secondary prevention defined as ‘therapies to reduce the risk of sudden cardiac death in patients who have already experienced an aborted cardiac arrest or life-threatening arrhythmias’. The mainstay therapy for secondary prevention of sudden cardiac death is implantation of an implantable cardioverter defibrillator. Furthermore, revascularization and optimal medical therapy for heart failure and concurrent cardiovascular diseases should be ensured.

scholarly journals The Necessity of an ICD-Therapy in Patients with Indications for Primary Prevention of Sudden Cardiac Death. One Center Experience

Kardiologiia ◽  
2021 ◽  
Vol 61 (4) ◽  
pp. 24-31
Author(s):  
A. S. Postol ◽  
N. M. Neminushchiy ◽  
G. N. Antipov ◽  
A. V. Ivanchenko ◽  
V. V. Lyashenko ◽  
...  
Keyword(s):  
Primary Prevention ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Ventricular Arrhythmias ◽  
Icd Therapy ◽  
Number Of Patients ◽  
Life Threatening ◽  
Group 2 ◽  
Cardioverter Defibrillators ◽  
Group 1

Aim      Analysis of responses of cardioverter-defibrillators implanted in patients with cardiomyopathies (CMPs) of various origins and a high risk of sudden cardiac death (SCD) to assess the effectiveness of a modern strategy for primary prevention of SCD.Material and methods  In the Federal Center for High Medical Technologies in Kaliningrad from 2014 through 2018, implantable cardioverter-defibrillators (ICD) and cardiac resynchronization therapy defibrillators (CRT-D) were installed in 165 patients. Major indications for device implantation in these patients included left ventricular (LV) systolic dysfunction with ejection fraction (EF) ≤35 %; chronic heart failure (CHF) consistent with the New York Heart Association (NYHA) functional class (FC) II-III (IV for CRT-D) without previous episodes of life-threatening ventricular arrhythmias, circulatory arrest and resuscitation, which was consistent with the current international strategy for primary prevention of SCD. The study patients were divided into two groups based on the CMP origin; group 1 included 101 (61.2 %) patients with CMP of ischemic origin (ICMP) and group 2 consisted of 64 (38.8 %) patients with CMP of non-ischemic origin (NCMP). Information about arrhythmic episodes and device activation was retrieved from the device electronic memory during visits of patients to the clinic and was also transmitted to the clinic by a remote monitoring system. This information was studied and evaluated for the validity and effectiveness of the device triggering. If necessary, the parameters of detection and treatment were adjusted taking into account the obtained information. Information was analyzed and statistically processed with the SPSS Statistics 20.0 software.Results The patients were followed up for 28.3 ± 15.6 months, during which the devices delivered therapy to 55 (33.3%) patients of the entire group. In the ICMP group, the devices were activated in 44 (26.7 %) patients and in the NCMP group, the devices were activated in 11 (6.7 %) patients. In group 1 (ICMP), appropriate triggering was observed in 33 (20.0%) patients and inappropriate triggering was observed in 11 (6.7%) patients. In group 2 (NCMP), appropriate triggering was observed in 2 (1.2 %) patients and inappropriate triggering was observed in 9 (5.5 %) patients. The main cause of inappropriate triggering was atrial fibrillation (AF). 17 (10.3 %) patients with ICMP had sustained ventricular tachycardia (VT), which did not reach the detection frequency for ICD therapy; these VTs were only detected by devices and terminated spontaneously. Intragroup differences in the number of patients who received an appropriate treatment were statistically significant: 33 (32.6 %) in the ICMP group vs. 2 (3.1 %) in the NCMP group (р<0.006). Differences in the number of patients who received an inappropriate treatment were not statistically significant although their number was greater in the NCMP group than in the ICMP group (9 (14.1 %) vs. 11 (10.9 %), р>0.05).Conclusion      A higher requirement for the ICD treatment was revealed in patients with ICMP compared to patients with NCMP. The low demand for the ICD treatment in patients with NCMP and the more frequent inappropriate actuation of the devices in this patient group due to AF allow a conclusion that the criteria for primary prevention of SCD with ICD (LV EF ≤35% and clinically significant CHF) are not equally effective indications for ICD implantation in patients with ICMP and NCMP. It can be assumed that life-threatening ventricular arrhythmias are evident in patients with NCMP before the development of hemodynamically significant LV dysfunction and CHF, which warrants further research in this direction. 

scholarly journals Study of genetic markers of cardiac arrhythmias in Kazakhstan

2014 ◽  
Vol 2 ◽  
Author(s):  
Makhabbat Bekbossynova ◽  
Ainur Akilzhanova ◽  
Zhannur Abilova ◽  
Ayan Abdrahmanov ◽  
Omirbek Nuralinov
Keyword(s):  
Ventricular Tachycardia ◽  
Sudden Cardiac Death ◽  
Cardiac Arrhythmias ◽  
Cardiac Death ◽  
Novel Mutation ◽  
Hot Spot ◽  
Receptor Gene ◽  
Polymorphic Ventricular Tachycardia ◽  
Life Threatening ◽  
Genetically Determined

Introduction: Cardiac arrhythmias are the most common cause of mortality and sudden cardiac death worldwide. In the past decade, genetic factors underlying arrhythmogenic diseases have been revealed and given novel insights in to the understanding and treatment of arrhythmias predisposing one to sudden cardiac death.Material and methods: We conducted a pilot genetic screening of two patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) and 14 patients with ventricular tachycardia (VT) for genetic variants in the human ryanodine receptor gene 2 (hRYR2). The most relevant 45 hot-spot exons of hRYR2 were amplified by polymerase chain reaction (PCR) and directly sequenced.Results: One novel mutation in a CPVT patient (c.A13892T; p.D4631V) and a novel mutation in a VT patient (c.G5428C; p.V1810L) were identified. Both variants are located at phylogenetically conserved positions and predicted pathogenesis. Three known synonymous SNPs (rs3765097, rs2253273, and TMP ESp1 237664067) were detected in the study group. No further variants within the target regions were detected in the study group.Conclusion: The results of study can be applied to risk asssessment for life-threatening arrhythmias and assist in development of appropriate strategies for prevention of sudden cardiac death. The implementation of these strategies would assist in the management of patients with genetically determined arrhythmias in Kazakhstan.

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