scholarly journals Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

2015 ◽  
Vol 9 (1) ◽  
Author(s):  
Mindy H. Li ◽  
Jenica L. Abrudan ◽  
Matthew C. Dulik ◽  
Ariella Sasson ◽  
Joshua Brunton ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Sudden Cardiac Death ◽  
Exome Sequencing ◽  
Diagnostic Tool ◽  
Cardiac Death ◽  
Sudden Cardiac Arrest

scholarly journals Predictors of sudden cardiac arrest in adolescents with mitral valve prolapse: an analysis of the nationwide inpatient sample

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
B Narasimhan ◽  
L Wu ◽  
C.H Lucas ◽  
K Bhatia ◽  
A Shah ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Family History ◽  
Sudden Cardiac Death ◽  
Mitral Valve ◽  
Mitral Regurgitation ◽  
Mitral Valve Prolapse ◽  
Cardiac Death ◽  
Sudden Cardiac Arrest ◽  
Adolescent Patients ◽  
History Of

Abstract Background Mitral valve prolapse (MVP) is the most commonly encountered valvular pathology seen in 2–3% of the general population. Though traditionally regarded as a benign pathology, recent literature suggests that sudden cardiac death is significantly more common in these patients with estimates of 0.2–0.4%/year. The exact underlying mechanism of these higher rates of SCD remain poorly understood. In this study, we aim to identify predictors of sudden cardiac arrest (SCA) in an adolescent population. Methods We conducted a retrospective study using the AHRQ-HCUP National Inpatient Sample 2016-2017 for the years 2016-17. All patients (≤18 years) admitted with Mitral valve prolapse were identified using ICD-10 codes and further sub stratified based on presence or absence of sudden cardiac arrest (SCA). Baseline characteristics were obtained and multivariate regression analysis was utilized to identify potential predictors of SCA. Independent risk factors for in-hospital mortality were identified using a proportional hazards model. Complications were defined as per the Agency for Health Care Research and Quality guideline. Results We screened a total of 71,473,874 admissions in the NIS database to identify a total of 1,372 adolescent patients admitted with MVP in the years 2016–17. These patients were then sub-categorized based on presence or absence of SCA during the hospitalization. Our findings revealed that patients with SCA were generally slightly older (15y vs 13y, p=0.036, OR-1.1, p=0.007) and more likely female (83.3% vs 13%, p=0.227, OR – 3.55, p=0.57)). Interestingly, patients in the SCA cohort were noted to have almost 4 fold higher rates of Mitral regurgitation (66.6% vs 18.35%, p=0.008, OR-8.89, p=0.005) as well as family history of SCD (16.7% vs 4.1%, p=0.145, OR-4.65, p=0.14). Conclusions Presence of Mitral regurgitation and a family history of sudden cardiac death are associated with significantly higher rates of SCA in adolescent patients with mitral valve prolapse. Predictors of SCA in Adolescent MVP Funding Acknowledgement Type of funding source: None

scholarly journals Delayed occurrence of an accelerated idioventricular rhythm with alternating bundle branch block after myocardial infarction as predictor of sudden cardiac arrest: a case report

2020 ◽  
Author(s):  
Markus Bettin ◽  
Matthias Koopmann ◽  
Gerold Mönnig ◽  
Christian Pott
Keyword(s):  
Myocardial Infarction ◽  
Cardiac Arrest ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Sudden Cardiac Arrest ◽  
Pacemaker Implantation ◽  
Permanent Pacemaker ◽  
Bundle Branch Block ◽  
Permanent Pacemaker Implantation ◽  
Idioventricular Rhythm

Abstract Background Accelerated idioventricular rhythm (AIVR) is known as reperfusion arrhythmia in the setting of acute myocardial infarction (AMI). In healthy individuals, it is usually considered to be benign. Alternating bundle branch block (ABBB) often progresses to complete atrioventricular block requiring permanent pacemaker implantation. We report a case of delayed appearance of AIVR following myocardial infarction (MI) in combination with ABBB as precursor of sudden cardiac arrest due to ventricular fibrillation (VF). Case summary A 62-year-old male with pre-existing left bundle branch block (LBBB) was admitted with an acute non-ST segment elevation MI. He underwent successful percutaneous coronary intervention (PCI) of a subtotal proximal left anterior descending artery (LAD) stenosis. Before and after PCI the electrocardiogram (ECG) demonstrated sinus rhythm with LBBB. The patient was discharged 5 days after PCI, left ventricular function at this time was moderately reduced (ejection fraction of 40%). After another 5 days, the patient was admitted for elective cardiac rehabilitation. At this time, the ECG demonstrated an AIVR with right bundle branch block morphology. Due to ABBB, the patient was scheduled for permanent pacemaker implantation. Before pacemaker implantation could take place, the patient developed a sudden cardiac arrest due to VF and was successfully resuscitated. A follow-up coronary angiography revealed no novel lesions. A cardiac resynchronization therapy defibrillator was implanted for secondary prevention of sudden cardiac death. Discussion Delayed occurrence of AIVR in combination with ABBB following AMI could be a predictor of sudden cardiac death. These patients are probably at high risk for malignant ventricular arrhythmias.

Sudden cardiac death associated with cardiac catheterization in Williams syndrome: a case report and review of literature

2019 ◽  
Vol 29 (4) ◽  
pp. 457-461
Author(s):  
Samer Abu-Sultaneh ◽  
Mercia J. Gondim ◽  
Ryan D. Alexy ◽  
Christopher W. Mastropietro
Keyword(s):  
Cardiac Arrest ◽  
Sudden Cardiac Death ◽  
Williams Syndrome ◽  
Cardiac Death ◽  
Sudden Cardiac Arrest ◽  
Cardiac Catheterisation ◽  
Review Of Literature ◽  
Therapeutic Procedures ◽  
Life Threatening ◽  
Cardiac Manifestations

AbstractWilliams syndrome is a rare genetic disease that affects elastin production, leading to medium and large vessel stenoses and other abnormalities. Cardiac manifestations of Williams syndrome are the most life-threatening, occurring in 80% of children. Children with Williams syndrome are known to be at risk for sudden cardiac death. These tragic events are often precipitated by diagnostic or therapeutic procedures requiring anaesthesia or sedation, such as cardiac catheterisation. We present the case of a 3-month-old infant with Williams syndrome who suffered sudden cardiac arrest during cardiac catheterisation and subsequent arrest approximately 48 hours after the procedure. We also review the current literature focused on children with Williams syndrome who have suffered sudden cardiac arrest during or after cardiac catheterisation procedures.

scholarly journals PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

2021 ◽  
Author(s):  
Anne Guimier ◽  
Melanie T. Achleitner ◽  
Anne Moreau de Bellaing ◽  
Matthew Edwards ◽  
Loïc de Pontual ◽  
...  
Keyword(s):  
Heart Failure ◽  
Cardiac Arrest ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Alcohol Intake ◽  
Phenotypic Variability ◽  
Sudden Cardiac Arrest ◽  
Molecular Data ◽  
Inorganic Pyrophosphatase ◽  
Novel Variants

Abstract Purpose Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants. Methods Synthesis of clinical and molecular data concerning 34 individuals harboring five previously reported PPA2 variants and 12 novel variants, 11 of which were functionally characterized. Results Among the 34 individuals, only 6 remain alive. Twenty-three died before the age of 2 years while five died between 14 and 16 years. Within these 28 cases, 15 died of sudden cardiac arrest and 13 of acute heart failure. One case was diagnosed prenatally with cardiomyopathy. Four teenagers drank alcohol before sudden cardiac arrest. Progressive neurological signs were observed in 2/6 surviving individuals. For 11 variants, recombinant PPA2 enzyme activities were significantly decreased and sensitive to temperature, compared to wild-type PPA2 enzyme activity. Conclusion We expand the clinical and mutational spectrum associated with PPA2 dysfunction. Heart failure and sudden cardiac arrest occur at various ages with inter- and intrafamilial phenotypic variability, and presentation can include progressive neurological disease. Alcohol intake can trigger cardiac arrest and should be strictly avoided.

scholarly journals Screening electrocardiogram in young athletes and military members: a systematic review and meta-analysis

2020 ◽  
Author(s):  
Aaron Lear ◽  
Niraj Patel ◽  
Chanda Mullen ◽  
Marian Simonson ◽  
Vince Leone ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Meta Analysis ◽  
Sudden Cardiac Arrest ◽  
Risk Of Bias ◽  
Young Athletes ◽  
Data Synthesis ◽  
Conference Abstract ◽  
Military Members

AbstractObjectiveTo determine the effect of electrocardiogram (ECG) screening on prevention of sudden cardiac arrest and death (SCA/D) in young athletes and military members.Data SourcesMEDLINE, Embase, Cochrane CENTRAL, Web of Science, BIOSIS, Scopus, SPORT discus, PEDro, and clinicaltrials.gov were searched from inception to dates between 2/21/19 and 7/29/19.Study SelectionRandomized and non-randomized controlled trials, where pre-participation examination including ECG was the primary intervention used to screen athletes or military 40 years of age or younger. Accepted controls were no screening, usual care, or pre-participation examination without ECG. 3 published studies, and one conference abstract were identified for inclusion.Data ExtractionIn all four studies, risk of bias was assessed with the Cochrane risk of bias tool, and found to be generally high. Two studies had data extracted for random effects meta-analysis, and the remaining study and conference abstract were included in narrative review.Data Synthesis4 studies (11,689,172 participants) were included, all at high risk of bias. Pooled data from two studies (n= 3,869,274; very low quality) showed a 42% relative decrease in sudden cardiac death, equating to an absolute risk reduction of .0016%. Uncertainty was high, with a potential 67% relative decrease to a 45% relative increase in those screened with ECG based on 95% confidence intervals (RR 0.58; 95%CI 0.23, 1.45). Heterogeneity was found to be high as measured with I2 statistic (71%).ConclusionThere is very low quality evidence ECG screening decreases risk of sudden cardiac death in young athletes and military members. Decisions need to consider evidence that ECG screening could also increase risk of sudden cardiac death based on the findings of meta-analysis.PROSPERO RegistrationCRD42019125560Key PointsECG screening of athletes has been shown to be more effective than history and physical examination alone to diagnose conditions which put the athlete at risk for sudden cardiac arrest or death (SCA/D). Few data are available to answer the question of the effectiveness of ECG screening in preventing SCA/D in young athletes.We identified only four published accounts (3 full papers and one conference abstract) of non-randomized trials reporting on the effectiveness of ECG screening to prevent SCA/D in young athletes and military members. The quality of the published evidence is judged to be of very low quality to answer the question of whether ECG screening prevents episodes of SCA/D. No difference was identified between screened and non-screened athletes in data synthesis of two of the published articles eligible for meta-analysis (RR 0.58; 95%CI 0.23, 1.45).

Sudden Cardiac Arrest and Sudden Cardiac Death

2013 ◽  
pp. 176-183
Author(s):  
Ary L. Goldberger ◽  
Zachary D. Goldberger ◽  
Alexei Shvilkin
Keyword(s):  
Cardiac Arrest ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Sudden Cardiac Arrest

scholarly journals Sudden Cardiac Death: Can We Solve the Puzzle?

2019 ◽  
Vol 3 (02) ◽  
pp. 077-084
Author(s):  
Ajita Suhrid Annachhatre
Keyword(s):  
Cardiac Arrest ◽  
Sudden Cardiac Death ◽  
Cardiopulmonary Resuscitation ◽  
Cardiac Death ◽  
Life Support ◽  
Sudden Cardiac Arrest ◽  
Successful Outcome ◽  
Advance Cardiac Life Support ◽  
The World

AbstractSudden cardiac death is a leading cause of death worldwide. That is the reason it requires more focus on predicting the risk and identifying susceptible candidates to optimize risk and prevent the catastrophic events like sudden cardiac arrest (SCA) and sudden cardiac death. Role of cardiopulmonary resuscitation (CPR) is vital in such events. Several measures have been taken all over the world to make every person aware of SCA and cardiac compressions only CPR. Immediate intervention and advance cardiac life support requires for successful outcome. In this review we have studied the etiology, predictors, and treatment of sudden cardiac death.

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