Researchers examine the risk factors for sudden cardiac death and management of at-risk patients

Abstract Introduction Hereditary cardiomyopathy is associated with an increased risk of ventricular arrhythmia and sudden cardiac death (SCD). Genetic stratification substantiates risk assessment and enables the primary prevention of SCD in relatives at risk. We have analyzed the genetic aetiology of SCD in a representative Czech cohort with post mortem diagnosis of various forms of cardiomyopathy and compared it to living cases with these cardiac disorders. Patients and methods Between 2018 and 2019, altogether 47 victims of SCD with post mortem diagnosis of hypertrophic- (HCM; 18/47), arrhythmogenic- (ACM; 19/47) and dilated cardiomyopathy (DCM; 10/47) were identified. Concurrently, genetic testing was performed in 114 living patients (HCM 54/114, ACM 22/114, DCM 38/114). Genetic counselling and cardiologic examination had been carried out in first-degree relatives in all patients/SCD victims. Massively parallel sequencing (MiSeq platform; Illumina.com) was utilized for a custom-made panel comprising 100 candidate genes (Sophia Genetics, Switzerland). The presence of pathogenic variants was validated by Sanger DNA sequencing and through family segregation analyses. Results The causative detection rate (according to ACMG.net classes 4 or 5) in SCD victims with DCM was 60% (6/10) and in living patients with DCM 47.4% (18/38). Variants in TTN, RBM20, DES and FLNC (mainly truncating variants) prevailed in both groups. The detection rate in ACM was 5% (1/19 in SCN5A gene) in SCD victims and 31.8% (7/22) in living patients. Interestingly, the most prevalent mutated gene PKP2 in living patients was not detected in SCD victims. The detection rate in SCD victims with post mortem diagnosis of HCM was 16% (3/18) and in living patients 35% (19/54). The most prevalent gene was MYBPC3 in both groups, while PRKAG2 was detected in one SCD victim and in one living case who survived cardiac arrest. Conclusion Post-mortem genetic analysis in DCM yields a high detection rate and allows potentially effective primary prevention of SCD in relatives at risk. In contrast, the molecular autopsy of HCM and ACM renders a much lower yield which is below the mutation detection rate in living phenotype positive individuals. The results help to improve the genetic counselling in affected families in Czech Republic. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): Ministry of Health of the Czech Republic

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Sudden Cardiac Death Risk in Downhill Skiers and Mountain Hikers and Specific Prevention Strategies

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18041621 ◽

2021 ◽

Vol 18 (4) ◽

pp. 1621

Author(s):

Josef Niebauer ◽

Martin Burtscher

Keyword(s):

Risk Factors ◽

Risk Factor ◽

Sudden Cardiac Death ◽

High Intensity ◽

Cardiac Death ◽

High Intensity Exercise ◽

Systemic Hypertension ◽

Physical Strain ◽

Mountainous Regions ◽

Downhill Skiing

Sudden cardiac death (SCD) still represents an unanticipated and catastrophic event eliciting from cardiac causes. SCD is the leading cause of non-traumatic deaths during downhill skiing and mountain hiking, related to the fact that these sports are very popular among elderly people. Annually, more than 40 million downhill skiers and mountain hikers/climbers visit mountainous regions of the Alps, including an increasing number of individuals with pre-existing chronic diseases. Data sets from two previously published case-control studies have been used to draw comparisons between the SCD risk of skiers and hikers. Data of interest included demographic variables, cardiovascular risk factors, medical history, physical activity, and additional symptoms and circumstances of sudden death for cases. To establish a potential connection between the SCD risk and sport-specific physical strain, data on cardiorespiratory responses to downhill skiing and mountain hiking, assessed in middle-aged men and women, have been included. It was demonstrated that previous myocardial infarction (MI) (odds ratio; 95% CI: 92.8; 22.8–379.1; p < 0.001) and systemic hypertension (9.0; 4.0–20.6; p < 0.001) were predominant risk factors for SCD in skiers, but previous MI (10.9; 3.8–30.9; p < 0.001) and metabolic disorders like hypercholesterolemia (3.4; 2.2–5.2; p < 0.001) and diabetes (7.4; 1.6–34.3; p < 0.001) in hikers. More weekly high-intensity exercise was protective in skiers (0.17; 0.04–0.74; p = 0.02), while larger amounts of mountain sports activities per year were protective in hikers (0.23; 0.1–0.4; <0.001). In conclusion, previous MI history represents the most important risk factor for SCD in recreational skiers and hikers as well, and adaptation to high-intensity exercise is especially important to prevent SCD in skiers. Moreover, the presented differences in risk factor patterns for SCDs and discussed requirements for physical fitness in skiers and hikers will help physicians to provide specifically targeted advice.

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Vital exhaustion and sudden cardiac death in the Atherosclerosis Risk in Communities Study

Heart ◽

10.1136/heartjnl-2017-311825 ◽

2017 ◽

Vol 104 (5) ◽

pp. 423-429 ◽

Cited By ~ 2

Author(s):

Brittany M Bogle ◽

Nona Sotoodehnia ◽

Anna M Kucharska-Newton ◽

Wayne D Rosamond

Keyword(s):

Risk Factors ◽

Sudden Cardiac Death ◽

Cardiac Death ◽

Disease Risk ◽

Ventricular Tachyarrhythmia ◽

Atherosclerosis Risk In Communities ◽

Vital Exhaustion ◽

Increased Risk ◽

Atherosclerosis Risk ◽

Aric Study

ObjectiveVital exhaustion (VE), a construct defined as lack of energy, increased fatigue and irritability, and feelings of demoralisation, has been associated with cardiovascular events. We sought to examine the relation between VE and sudden cardiac death (SCD) in the Atherosclerosis Risk in Communities (ARIC) Study.MethodsThe ARIC Study is a predominately biracial cohort of men and women, aged 45–64 at baseline, initiated in 1987 through random sampling in four US communities. VE was measured using the Maastricht questionnaire between 1990 and 1992 among 13 923 individuals. Cox proportional hazards models were used to examine the hazard of out-of-hospital SCD across tertiles of VE scores.ResultsThrough 2012, 457 SCD cases, defined as a sudden pulseless condition presumed due to a ventricular tachyarrhythmia in a previously stable individual, were identified in ARIC by physician record review. Adjusting for age, sex and race/centre, participants in the highest VE tertile had an increased risk of SCD (HR 1.48, 95% CI 1.17 to 1.87), but these findings did not remain significant after adjustment for established cardiovascular disease risk factors (HR 0.94, 95% CI 0.73 to 1.20).ConclusionsAmong participants of the ARIC study, VE was not associated with an increased risk for SCD after adjustment for cardiovascular risk factors.

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How does amiodarone compare with other antiarrhythmic drugs for the secondary prevention of sudden cardiac death in at-risk adults?

Cochrane Clinical Answers ◽

10.1002/cca.1276 ◽

2016 ◽

Author(s):

Jane Burch ◽

Dane Gruenebaum

Keyword(s):

At Risk ◽

Sudden Cardiac Death ◽

Secondary Prevention ◽

Cardiac Death ◽

Antiarrhythmic Drugs

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Prevention of atrial fibrillation – non-modifiable and modifiable risk factors for AF

In a good rythm ◽

10.5604/01.3001.0014.2845 ◽

2020 ◽

Vol 2 (55) ◽

pp. 14-19

Author(s):

Agnieszka Wojdyła-Hordyńska ◽

Grzegorz Hordyński

Keyword(s):

Risk Factors ◽

Heart Failure ◽

Atrial Fibrillation ◽

Cardiovascular Disease ◽

Cardiovascular Diseases ◽

Sudden Cardiac Death ◽

Cardiac Death ◽

Combined Treatment ◽

Lifestyle Changes ◽

Modifiable Risk Factors

Atrial fibrillation is one of the most common arrhythmias, with a significant increase in incidence in recent years. AF is a major cause of stroke, heart failure, sudden cardiac death, and cardiovascular disease. Timely intervention and modification of risk factors increase chance to stop the disease. Aggressive, multilevel prevention tactics are a component of combined treatment, including – in addition to lifestyle changes, anticoagulant therapy, pharmacotherapy and invasive anti-arrhythmic treatment – prevention of cardiovascular diseases, hypertension, ischemia, valvular disease and heart failure.

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Abstract 14760: Myocardial Scarring by Magnetic Resonance Predicts Sudden Cardiac Death in Pediatric Patients With Hypertrophic Cardiomyopathy

Circulation ◽

10.1161/circ.142.suppl_3.14760 ◽

2020 ◽

Vol 142 (Suppl_3) ◽

Author(s):

Lars Grosse-Wortmann ◽

Laurine van der Wal ◽

Aswathy Vaikom House ◽

Lee Benson ◽

Raymond Chan

Keyword(s):

Risk Factors ◽

Risk Factor ◽

Hypertrophic Cardiomyopathy ◽

Sudden Cardiac Death ◽

Cardiac Death ◽

Pediatric Patients ◽

Risk Markers ◽

C Statistic ◽

Increased Risk ◽

Traditional Risk Factors

Introduction: Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) has been shown to be an independent predictor of sudden cardiac death (SCD) in adults with hypertrophic cardiomyopathy (HCM). The clinical significance of LGE in pediatric HCM patients is unknown. Hypothesis: LGE improves the SCD risk prediction in children with HCM. Methods: We retrospectively analyzed the CMR images and reviewed the outcomes pediatric HCM patients. Results: Amongst the 720 patients from 30 centers, 73% were male, with a mean age of 14.2±4.8 years. During a mean follow up of 2.6±2.7 years (range 0-14.8 years), 34 experienced an episode of SCD or equivalent. LGE (Figure 1A) was present in 34%, with a mean burden of 14±21g, or 2.5±8.2g/m2 (6.2±7.7% of LV myocardium). The presence of ≥1 adult traditional risk factor (family history of SCD, syncope, LV thickness >30mm, non-sustained ventricular tachycardia on Holter) was associated with an increased risk of SCD (HR=4.6, p<0.0001). The HCM Risk-Kids score predicted SCD (p=0.002). The presence of LGE was strongly associated with an increased risk (HR=3.8, p=0.0003), even after adjusting for traditional risk factors (HR adj =3.2, p=0.003) or the HCM Risk-Kids score (HR adj =3.5, p=0.003). Furthermore, the burden of LGE was associated with increased risk (HR=2.1/10% LGE, p<0.0001). LGE burden remained independently associated with an increased risk for SCD after adjusting for traditional risk factors (HRadj=1.5/10% LGE, p=0.04) or HCM Risk-Kids (HRadj=1.9/10% LGE, p=0.0018, Figure 1B). The addition of LGE burden improved the predictive model using traditional risk markers (C statistic 0.67 vs 0.77, p=0.003) and HCM Risk-Kids (C statistic 0.68 vs 0.74, p=0.045). Conclusions: Quantitative LGE is an independent risk factor for SCD in pediatric patients with HCM and improves the performance of traditional risk markers and the HCM Risk-Kids Score for SCD risk stratification in this population.

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Brugada Syndrome: Fatal Consequences of a Must-Not-Miss Diagnosis

Critical Care Nurse ◽

10.4037/ccn2021499 ◽

2021 ◽

Vol 41 (5) ◽

pp. 15-22

Author(s):

L. Douglas Smith ◽

Sarah Gast ◽

Danielle F. Guy

Keyword(s):

At Risk ◽

Critical Care ◽

Sudden Cardiac Death ◽

Ventricular Arrhythmia ◽

Brugada Syndrome ◽

Cardiac Death ◽

Lifestyle Modification ◽

Genetic Disorder ◽

Cardiac Conduction ◽

St Segment Elevation

Background Brugada syndrome is a genetic disorder of cardiac conduction that predisposes patients to spontaneous ventricular arrhythmia and sudden cardiac death. Although Brugada syndrome is one of the most common causes of sudden cardiac death, patients presenting with the syndrome often go misdiagnosed. This error has potentially fatal consequences for patients, who are at risk for sudden cardiac death without appropriate management. Objective To increase the critical care professional’s knowledge of Brugada syndrome through detailed description of the characteristic electrocardiographic findings, an algorithmic approach to electrocardiogram evaluation, and a case report of a patient with a previously missed diagnosis of Brugada syndrome. The essential concepts of epidemiology, pathophysiology, clinical presentation, risk stratification, and management are reviewed for critical care professionals who may encounter patients with the syndrome. Diagnosis Patients typically present with syncope or cardiac arrest and an abnormal electrocardiographic finding of ST-segment elevation in the precordial leads. The diagnosis of Brugada syndrome centers on identification of its electrocardiographic characteristics by critical care professionals who routinely evaluate electrocardiograms. Critical care professionals, especially nurses and advanced practice nurses, should be proficient in recognizing the electrocardiographic appearance of Brugada syndrome and initiating appropriate management. Interventions Management strategies include prevention of sudden cardiac death through lifestyle modification and placement of an implantable cardioverter-defibrillator. Critical care professionals should be aware of commonly used medications that may exacerbate ventricular arrhythmia and place patients at risk for sudden cardiac death. Conclusion Increased awareness of Brugada syndrome among critical care professionals can decrease patient morbidity and mortality.

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