Sudden Cardiac Death in Genetic Heart Diseases and the Promise of Prevention

2010 ◽  
Vol 63 (3) ◽  
pp. 257-260
Author(s):  
Barry J. Maron
2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
C Cotrim ◽  
F Costa ◽  
D Severino ◽  
L Baquero ◽  
J Guardado

Abstract Background Some publications, on exercise induced intraventricular gradients, admit the possibility they can be related to some cases of unexplained sudden cardiac death (SCD). Clinical case We present the case of a young male athlete (16 years) that after winning a triathlon competition has sudden cardiac death. No cardiovascular risk factors. No family history of SCD A previous episode of dizziness, accompanied by nausea and vomiting related to intense training happens 6 months before. In September 2018 about 30 minutes after winning a triathlon competition has SCD episode having been resuscitated on site by the competition physician having been defibrillated and transported to intensive care unit. After discharge, cardiac MRI, Coronary AngioTC, complete genetic study for heart diseases, flecainid test, transthoracic echocardiogram, stress echocardiogram with hyperventilation and ergometrine. All have normal results (Figure) During 24 hours Holter ECG isolated premature ventricular complexes were detected and during exercise stress echocardiography a significant intraventricular gradient without systolic anterior movement of mitral valve was detected (Figure). The athlete was disqualified for sports practice, refuses CDI implantation and started bisoprolol 2,5 mg daily. To the best of our knowledge this is the first case of association between SCD and exercise induced intraventricular gradient. This possible association should be studied in the future. Abstract P859 Figure. Intraventricular gradient in SCD athlete


Author(s):  
Tusharkanti Patra ◽  
Prashant Kumar ◽  
Somnath Mukherjee ◽  
Anurag Passi ◽  
S. K. Saidul Islam

Background: Main objective of the study is details work up of the patients of ventricular tachy-arrhythmias and to find out its association with any structural heart disease.Methods: This institution based observational study was conducted in patients of documented sustained VT (ventricular tachycardia) with consecutive 102 patients.Results: The mean age of the VT patients was 56.7 years and the number of male patients were 70 (69%). In our study, among 102 patients 45 patients were diabetic, 64 patients were hypertensive, 30 patients were current smoker, family history of heart disease was present in 25 patients and family history of SCD (sudden cardiac death) was present in 5 patients. Among the patients who presented with symptoms of ventricular tachy arrhythmia, 25 patients had EF (ejection fraction) above 40%, 36 had EF between 31 to 40% and only 2 had EF below 30%. CAG (coronary angiography) done in 98 patients and 16 had normal coronaries. 20, 16 and 46 patients had single, double and triple vessel disease respectively. 80 patients had coronary heart disease (78%), 20 patients among them had acute ischemic events and 60 had chronic ischemic disease. 12 patients didn’t have any structural heart disease.Conclusions: Ischemic heart disease, acute or chronic, is the most common causes of ventricular tachyarrhythmia. male sex, diabetes mellitus, hypertension, smoking, family history of heart diseases or sudden cardiac death being the risk factors of coronary artery disease are also predisposing factors of ventricular tachyarrhythmia.


2021 ◽  
Vol 20 (Supplement_1) ◽  
Author(s):  
L Yeates ◽  
K Gardner ◽  
J Do ◽  
L Van Den Heuvel ◽  
G Fleming ◽  
...  

Abstract Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): National Heart Foundation of Australia / NHMRC Co-funded Post Graduate Scholarship Introduction Sudden cardiac death (SCD) is a devastating complication of many genetic heart diseases. The psychological impact on surviving family members is significant and lifelong. Previous needs analysis found medical and psychological needs are of high importance but remain unmet in some cases. Co-design is an increasingly popular research method for the development of interventions and services that include users as contributing members of the research team. Previous research has shown co-design leads to innovative ideas that better address user needs. Purpose To use co-design to develop an online support intervention for families after SCD. Methods Semi-structured moderated online focus groups were held with key stakeholders, including family members who had experienced young SCD, healthcare professionals and researchers. Guided discussions were used to co-design an online support intervention. Thematic analysis of discussions and iterative feedback on draft materials guided content development. Results Four focus groups were held (average 11 participants per group). Stakeholder involvement facilitated development of high-level ideas and priority issues. Key benefits included creative content and materials developed based on user preference for stories, narratives and information reflecting everyday experience of families navigating the legal and medical processes surrounding SCD, normalising and supporting grief responses in the context of family relationships, and fostering hope. Conclusion Co-design supported creative presentation, tailoring of information and development of psychosocial interventions to meet the needs of SCD families. Further work is needed to pilot and trial the intervention, prior to it becoming a key resource in the care of these families.


Author(s):  
Dillan Ismail ◽  
Anders Eriksson ◽  
Stellan Mörner ◽  
Annika Rydberg

AbstractIntensive participation in sport has positive physiological effects on the heart. The contractility of the heart improves, the ejection fraction increases and the muscle mass of the heart increases, thus leading to a greater cardiac output. Despite these positive effects, there is still an increased risk for acute cardiac events. The workload of the heart can be very high in some sports and may in some cases be the reason for sudden cardiac death. In these cases, there is often an underlying heart disease (cardiomyopathy) unknown before the actual event. Electrocardiographic examination (ECG) may reveal some of these diseases but although ECG examinations can be a useful tool to discover pathological conditions, there could be difficulties in interpreting different ECG patterns, especially in athletes. In some cases, athletes may exhibit ECG patterns that are similar to those in heart diseases such as cardiomyopathies (QRS-amplitudes, ST-segment elevation and T wave inversions in lateral leads).  This pattern is even more common in athletes of African origins. Furthermore, cardiomyopathies such as hypertrophic cardiomyopathy (HCM) are more common among athletes with African heritage than in white athletes. Thus correct interpretation of ECG is crucial for several reasons: to distinguish between benign physiological (‘athlete’s heart’) and pathological changes, to lower the risk of sudden cardiac death, and to save time and money by not undertaking further examination of the heart.


2021 ◽  
Vol 8 ◽  
Author(s):  
Juan P. Hernández del Rincón ◽  
Mari C. Olmo Conesa ◽  
Ana Rodríguez Serrano ◽  
Helena García Pulgar ◽  
David López Cuenca ◽  
...  

Introduction: Inherited cardiovascular diseases are an important cause of sudden cardiac death (SD). The use of risk scores identify high risk patients who would benefit from an implantable cardioverter-defibrillators (ICDs). The development of automated devices for out-of-hospital cardiac arrest improves early resuscitation. The objective of the study is to quantify prevented SD and the neurological recovery of patients with inherited cardiovascular diseases.Methods: Two hundred fifty-seven cases of SD (age 42 ± 18 years, 79.4% men) of non-ischemic cardiac cause were prospectively collected during the study period (2009–17). Fifty three (20.6%) had a resuscitated cardiac arrest (RCA) (age 40 ± 18 years, 64.2% male). Epidemiological, clinical and autopsy aspects were analyzed. Prevented SD was defined as a combination of RCA and appropriate ICD therapy cases.Results: An autopsy was performed in 157/204 (77.0%) cases who died. There were 19 (12.1%) cases with a negative autopsy. The diagnosis of cardiomyopathy and channelopathy was 58.0 and 18.7%, respectively. Female sex and confirmed or suspected channelopathy were associated with successful resuscitation. The percentage of prevented SD remained low during the study period (mean 35.6%). 60.4% of RCA cases presented good neurological outcome. There was no association between neurological recovery and therapeutic hypothermia, but there was association with time of resuscitation (min).Conclusion: A fifth part of non-ischemic cardiac arrests were resuscitated. Female sex and channelopathies were more prevalent among RCA. Two thirds of RCA had a good neurological recovery.


F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 1614 ◽  
Author(s):  
Jamie I. Vandenberg ◽  
Matthew D. Perry ◽  
Adam P. Hill

There have been tremendous advances in the diagnosis and treatment of heart disease over the last 50 years. Nevertheless, it remains the number one cause of death. About half of heart-related deaths occur suddenly, and in about half of these cases the person was unaware that they had underlying heart disease. Genetic heart disease accounts for only approximately 2% of sudden cardiac deaths, but as it typically occurs in younger people it has been a particular focus of activity in our quest to not only understand the underlying mechanisms of cardiac arrhythmogenesis but also develop better strategies for earlier detection and prevention. In this brief review, we will highlight trends in the recent literature focused on sudden cardiac death in genetic heart diseases and how these studies are contributing to a broader understanding of sudden death in the community.


Hearts ◽  
2021 ◽  
Vol 2 (2) ◽  
pp. 270-277
Author(s):  
Jean-Claude Chatard

Physical exercise increases the relative risk of sudden cardiac death (SCD) in athletes when compared to a non-sporting population. Pre-participation evaluation (PPE) of athletes is thus of major importance. For Pacific Island athletes, medical guidelines recommend an echocardiography to complement a PPE including personal and family history, a physical examination and a resting twelve-lead electrocardiogram (ECG). Indeed, silent rheumatoid heart diseases found in up to 7.6% of adolescents give rise to severe valve lesions, which are the main causes of SCD in Pacific Island athletes. This short review examines the incidence rate of SCD in Pacific Island athletes and indicates how a questionnaire, physical examination, ECG and echocardiography can prevent it.


EP Europace ◽  
2021 ◽  
Vol 23 (Supplement_3) ◽  
Author(s):  
L Leoni ◽  
A Elhyka ◽  
S Ferretto ◽  
J Fumanelli ◽  
A Cerutti ◽  
...  

Abstract Funding Acknowledgements Type of funding sources: None. Background The 12-lead electrocardiogram (ECG) is an instrument that can identify cardiac conduction system abnormalities that predispose to sudden cardiac death (SCD) in completely asymptomatic subjects. The rate of sudden cardiac death in pediatric age is estimated to be around 1-1.5 cases per 100.000 individuals, and 10-15% of events occur during physical activity. We evaluated the importance of the electrocardiogram performed in pediatric age in the early detection of asymptomatic electrocardiographic alterations, suggestive for the presence of electrical or structural heart disease potentially at risk for sudden death. Materials and Methods We analyzed 623 patients between 0 and 16 years of age who were sent to the second level pediatric arrhythmology clinic in Padua Hospital between October 2013 and March 2020. The patients were redirected at our clinic after a first finding of electrocardiographic alterations, following ECG performed before the beginning of sport activity, suspected of life-threatening pathologies. The following parameters were evaluated of all patients: clinical suspect of sending the pediatric arrhythmology clinic and electrocardiogram. Then, depending on the type of pathology suspected, the following diagnostic tests were carried out to confirm the clinical suspicion, and if confirmed, to carry out an adequate risk stratification: Holter ECG, ergometric Results Among the evaluated population (623 patients), 393 patients (63%) were sent to the pediatric arrhythmology clinic by sports medicine, 179 (29%) were sent by clinical o family pediatrician, and 51 patients (8%) were sent after ECG performed at hospital facilities for familiarity. The majority, 280 patients (45%), were sent for suspected WPW; 124 patients (20%) were sent for BEV and suspected ARVD; 85 patients (14%) for suspected long QT, 31 patients (5%) for suspected Brugada Pattern; 7 patients (1%) suspected CPVT; 8 patients (1%) for electrocardiographic changes with suspected HCM; 1 patient (0.01%) suspected shortened QT, and 88 patients (14%) for other arrhythmic disorders not at risk of sudden death. The diagnosis of WPW was confirmed in 280 patients, LQTS in 45 patients, SQTS in 1 patient, S. di Brugada in 8 patients, CPVT in 5 patients, HCM in 8 patients and ARVD in 6 patients. Conclusions Our study shows that the electrocardiographic screening already in pediatric age allows the diagnosis and subsequent early treatment of life-threatening arrhythmic heart diseases.


2012 ◽  
Vol 8 (2) ◽  
pp. 134
Author(s):  
Vincent Floré ◽  
Rik Willems ◽  
◽  

Sudden cardiac death (SCD) is an important cause of mortality. In this article, we review the definition, impact and underlying aetiology of SCD. Ventricular tachyarrhythmia accounts for the majority of SCDs and can be caused by various underlying heart diseases, the most frequent being ischaemic cardiomyopathy. The most effective ways to reduce the risk of SCD in ischaemic cardiomyopathy are the optimal prevention of recurrent coronary ischaemia and the use of an implantable cardioverter-defibrillator (ICD) in high-risk patients. We discuss current patient selection for ICD implantation and focus on the need for, and possibilities to improve, SCD risk stratification.


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