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1.
Acta Clin Croat ; 60(4): 739-748, 2021 Dec.
Article in English | MEDLINE | ID: mdl-35734489

ABSTRACT

Congenital long QT syndrome (LQTS) is a disorder of myocardial repolarization defined by a prolonged QT interval on electrocardiogram (ECG) that can cause ventricular arrhythmias and lead to sudden cardiac death. LQTS was first described in 1957 and since then its genetic etiology has been researched in many studies, but it is still not fully understood. Depending on the type of monogenic mutation, LQTS is currently divided into 17 subtypes, with LQT1, LQT2, and LQT3 being the most common forms. Based on the results of a prospective study, it is suggested that the real prevalence of congenital LQTS is around 1:2000. Clinical manifestations of congenital LQTS include LQTS-attributable syncope, aborted cardiac arrest, and sudden cardiac death. Many patients with congenital LQTS will remain asymptomatic for life. The initial diagnostic evaluation of congenital LQTS includes obtaining detailed personal and multi-generation family history, physical examination, series of 12-lead ECG recordings, and calculation of the LQTS diagnostic score, called Schwartz score. Patients are also advised to undertake 24-hour ambulatory monitoring, treadmill/cycle stress testing, and LQTS genetic testing for definitive confirmation of the diagnosis. Currently available treatment options include lifestyle modifications, medication therapy with emphasis on beta-blockers, device therapy and surgical therapy, with beta-blockers being the first-line treatment option, both in symptomatic and asymptomatic patients.


Subject(s)
Long QT Syndrome , Arrhythmias, Cardiac , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Electrocardiography/adverse effects , Genotype , Humans , Long QT Syndrome/diagnosis , Long QT Syndrome/genetics , Long QT Syndrome/therapy , Prospective Studies
2.
Clin Sports Med ; 41(3): 357-368, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35710266

ABSTRACT

Providing medical care for an athlete can be challenging in many aspects. One specific aspect is the athlete's cardiovascular system. Athletic training and physical activity certainly can improve cardiovascular health, but it can also cause cardiac adaptations and place athletes at risk for sudden cardiac arrest. When an athlete has cardiac symptoms, a concerning family history, abnormal cardiac testing, or an underlying cardiac condition, a wide range of professionals are needed to appropriately care for the athlete under evaluation.


Subject(s)
Cardiomegaly, Exercise-Induced , Sports , Athletes , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/prevention & control , Electrocardiography/adverse effects , Exercise , Humans
3.
Clin Sports Med ; 41(3): 369-388, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35710267

ABSTRACT

Sudden cardiac death (SCD) is the leading cause of medical death in athletes; however, many studies are significantly flawed making an accurate estimation of risk difficult. Incidence studies need to have accurate case ascertainment, a defined study population, and should be stratified by both sex and age. The risk of SCA/d in college-aged males is 1 in 35,000 person-years, black males 1 in 18,000 person-years, and higher-risk sports include men's basketball, men's soccer, and American football. Inherited cardiomyopathies and electrical conditions account for ∼ 2/3 of off SCA/d and can be detected with an ECG. More research is needed to provide more granular estimates.


Subject(s)
Death, Sudden, Cardiac , Football , Athletes , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Humans , Incidence , Male , Universities , Young Adult
4.
Am J Case Rep ; 23: e935710, 2022 Jun 14.
Article in English | MEDLINE | ID: mdl-35698443

ABSTRACT

BACKGROUND Ventricular electrical storm (VES) is a treatment-resistant ventricular arrhythmia associated with high mortality. This report is of a 39-year-old woman with VES treated with emergency cardiac defibrillation followed by multidisciplinary management. CASE REPORT A 39-year-old woman, previously diagnosed with eosinophilia of unknown origin and recurrent non-sustained ventricular tachycardias, was admitted to the Department of Invasive Cardiology with VES after an initial antiarrhythmic approach, analgesia, and defibrillation in the Emergency Department. The patient had a temporary pacing wire implanted, but overdrive therapy was not successful. The medical treatment and multiple defibrillations did not stop the arrythmia. Due to the hemodynamic instability, extracorporeal membrane oxygenation (ECMO) was performed at the Department of Cardiac Surgery. Consequently, the patient was stabilized and an electrophysiology exam and RF ablation of arrhythmogenic focus were conducted in the Department of Cardiology. One day after the procedure, the patient had pulmonary edema caused by pericardial tamponade. The patient was successfully operated on in the Department of Cardiac Surgery. Then, the next complication appeared - a femoral artery embolism - which was treated in the Department of Vascular Surgery. After patient stabilization and exclusion of serious neurological damage, an implantable cardioverter-defibrillator (ICD) was implanted for secondary prevention of sudden cardiac death (SCD). CONCLUSIONS This case has shown the importance of the rapid diagnosis of VES and emergency management with cardiac defibrillation. Multidisciplinary clinical follow-up is required to investigate and treat any reversible causes and to ensure long-term stabilization of cardiac rhythm.


Subject(s)
Defibrillators, Implantable , Tachycardia, Ventricular , Adult , Anti-Arrhythmia Agents , Arrhythmias, Cardiac/complications , Death, Sudden, Cardiac/etiology , Defibrillators, Implantable/adverse effects , Female , Humans , Tachycardia, Ventricular/therapy
6.
Ann Intern Med ; 175(6): JC66, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35667075

ABSTRACT

SOURCE CITATION: Yafasova A, Butt JH, Elming MB, et al. Long-term follow-up of DANISH (The Danish Study to Assess the Efficacy of ICDs in Patients With Nonischemic Systolic Heart Failure on Mortality). Circulation. 2022;145:427-36. 34882430.


Subject(s)
Defibrillators, Implantable , Heart Failure, Systolic , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/prevention & control , Defibrillators, Implantable/adverse effects , Humans
7.
Am J Cardiol ; 175: 127-130, 2022 Jul 15.
Article in English | MEDLINE | ID: mdl-35662474

ABSTRACT

Coronary artery anomalies (CAAs) have been previously implicated as a major cause of young sudden cardiac death (SCD), particularly in exercise-related SCD, with a prevalence of up to 33%. A state-wide prospective out-of-hospital cardiac arrest registry identified all patients aged 1 to 50 years who experienced an SCD and underwent autopsy from April 2019 to April 2021. Rates of normal anatomy, normal variants, and CAAs were identified, and circumstances and causes of death for patients with CAAs examined. Of 1,477 patients who experienced cardiac arrest during the study period, 490 underwent autopsy and were confirmed to have experienced SCD. Of these 490 patients, 5 (1%) had a CAA identified, with 3 having anomalies of coronary origin and 2 having anomalies of coronary course. In no cases were the CAA deemed responsible for the SCD. In 2 cases, severe coronary disease and intra-coronary thrombus with histological evidence of acute myocardial infarction were identified. In the third, critical coronary disease was found, the fourth had an unrelated thoracic aortic dissection, and the fifth had cardiomegaly in the setting of illicit drug use. Of 27 patients who experienced their SCD during exercise, only 1 had a CAA identified (the patient with thoracic aortic dissection). In conclusion, in this prospective cohort of consecutive young patients with SCD who underwent autopsy, CAAs occurred in 1% of patients and did not cause any deaths. The role of CAAs in causing young and middle-aged SCD appears to be less significant than previously hypothesized.


Subject(s)
Aneurysm, Dissecting , Coronary Artery Disease , Heart Defects, Congenital , Aneurysm, Dissecting/complications , Coronary Artery Disease/complications , Coronary Artery Disease/epidemiology , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/pathology , Heart Defects, Congenital/complications , Humans , Middle Aged , Prevalence , Prospective Studies , Registries
8.
BMC Cardiovasc Disord ; 22(1): 252, 2022 Jun 03.
Article in English | MEDLINE | ID: mdl-35658897

ABSTRACT

BACKGROUND: Commotio cordis is an event in which a blunt, non-penetrating blow to the chest occurs, triggering a life-threatening arrhythmia and often sudden death. This phenomenon is often seen in young, male athletes and has become increasingly well-known over the past few decades. We present a unique case in which ventricular fibrillation occurs in an older male athlete after blunt trauma. CASE PRESENTATION: Patient with no known medical history was brought to the ER after being found unconscious after a soccer ball kick to the chest. He was found to be in ventricular fibrillation and successfully resuscitated on the soccer field. Patient was admitted to the hospital and lab workup and initial imaging were unremarkable, except elevated troponin and lactate, which returned to normal levels. An echocardiogram showed global left ventricular systolic dysfunction with a visually estimated ejection fraction of 45-50%. Coronary showed angiographically nonobstructive coronary arteries. The patient was diagnosed with commotio cordis and discharged from the hospital in stable condition. Follow-up echocardiogram continued to show low ejection fraction and event monitor demonstrated frequent polymorphic ventricular tachycardia with periods of asystole. CONCLUSION: This case is unique in that blunt trauma to the chest from a soccer ball immediately triggered ventricular fibrillation in a patient with a possible cardiomyopathy. It is possible that the blunt trauma caused primary commotio cordis that led to cardiomyopathy in a previous healthy man, or that an underlying cardiomyopathy made it more likely for this to occur. Overall, increased awareness and prevention efforts of blunt chest trauma are required to reduce the high mortality associated life-threatening arrhythmias. There is limited data regarding the interplay between these two entities.


Subject(s)
Commotio Cordis , Thoracic Injuries , Wounds, Nonpenetrating , Adult , Arrhythmias, Cardiac/complications , Commotio Cordis/complications , Commotio Cordis/etiology , Death, Sudden, Cardiac/etiology , Humans , Male , Thoracic Injuries/complications , Ventricular Fibrillation/diagnosis , Ventricular Fibrillation/etiology , Ventricular Fibrillation/therapy , Wounds, Nonpenetrating/complications , Wounds, Nonpenetrating/diagnostic imaging
9.
J Am Soc Echocardiogr ; 35(6): 533-569, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35659037

ABSTRACT

Hypertrophic cardiomyopathy (HCM) is defined by the presence of left ventricular hypertrophy in the absence of other potentially causative cardiac, systemic, syndromic, or metabolic diseases. Symptoms can be related to a range of pathophysiologic mechanisms including left ventricular outflow tract obstruction with or without significant mitral regurgitation, diastolic dysfunction with heart failure with preserved and heart failure with reduced ejection fraction, autonomic dysfunction, ischemia, and arrhythmias. Appropriate understanding and utilization of multimodality imaging is fundamental to accurate diagnosis as well as longitudinal care of patients with HCM. Resting and stress imaging provide comprehensive and complementary information to help clarify mechanism(s) responsible for symptoms such that appropriate and timely treatment strategies may be implemented. Advanced imaging is relied upon to guide certain treatment options including septal reduction therapy and mitral valve repair. Using both clinical and imaging parameters, enhanced algorithms for sudden cardiac death risk stratification facilitate selection of HCM patients most likely to benefit from implantable cardioverter-defibrillators.


Subject(s)
Cardiology , Cardiomyopathy, Hypertrophic , Heart Failure , Cardiomyopathy, Hypertrophic/diagnosis , Cardiomyopathy, Hypertrophic/diagnostic imaging , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/prevention & control , Echocardiography , Humans , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy , United States
10.
Pediatr Ann ; 51(6): e228-e233, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35667100

ABSTRACT

Sudden death of an infant can be from numerous causes. The leading cardiac causes include major congenital heart disease, myocarditis, cardiomyopathies, and channelopathies. There are new approaches to evaluating these patients and surviving family members. Pediatricians are a key component in support of the family, investigation of other at-risk family members, and coordination of subspecialty consultation. [Ped Ann. 2022;51(6):e228-e233.].


Subject(s)
Cardiomyopathies , Channelopathies , Sudden Infant Death , Cardiomyopathies/complications , Channelopathies/complications , Death, Sudden, Cardiac/etiology , Humans , Infant , Pediatricians , Sudden Infant Death/diagnosis , Sudden Infant Death/etiology
12.
Eur Rev Med Pharmacol Sci ; 26(10): 3712-3717, 2022 May.
Article in English | MEDLINE | ID: mdl-35647853

ABSTRACT

OBJECTIVE: Spontaneous coronary artery dissection (SCAD) is a spontaneous separation of the coronary artery wall whose etiology appears to be poorly understood. SCAD is a rare cause of acute coronary syndromes, and it is a life-threatening condition. CASE REPORT: We report the case of a young woman who developed SCAD during a thyroid storm (TS). RESULTS: To the best of our knowledge, this is the first reported case of SCAD during a TS, and it suggests a possible association between high levels of circulating thyroid hormones and SCAD susceptibility. CONCLUSIONS: Early identification of SCAD predisposing factors is important to identify high-risk patients. In patients presenting to the emergency department because of chest pain with a history of dysthyroidism, early determination of thyroid hormones and troponin could prevent certain forms of sudden cardiac death.


Subject(s)
Aneurysm, Dissecting , Coronary Aneurysm , Thyroid Crisis , Aneurysm, Dissecting/etiology , Coronary Aneurysm/complications , Coronary Vessel Anomalies , Coronary Vessels , Death, Sudden, Cardiac/etiology , Female , Humans , Thyroid Crisis/complications , Thyroid Crisis/diagnosis , Vascular Diseases/congenital
13.
Forensic Sci Int Genet ; 59: 102723, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35640313

ABSTRACT

Risk of sudden cardiac death (SCD) increases with age, and several studies have examined the impact of different drugs on cardiovascular function. However, few studies have integrated epidemiological drug consumption data and genetic background in the context of cardiac death. We performed a retrospective population-based study in forensic sudden death cases from a 9-year period in Catalonia. The young cohort included 924 cases 18-50 years old, 566 of which had a cardiac cause of death. Complete autopsy, toxicological, and histopathological studies were performed. Molecular autopsy using next-generation sequencing was performed in nearly 400 cardiac cases. Cases related with fatal acute intoxication were excluded. Drug consumption prevalence was similar between forensic cases of cardiac and non-cardiac origin (62.5% versus 69.5%), with the exception of alcohol, which was more prevalent in the cardiac group than in the non-cardiac group (23.3% versus 17.1%). Individuals in the toxicology-positive group were carriers of more rare genetic variants and were significantly younger than the toxicology-negative group. Psychopharmacological drugs were identified in 22.3% of cardiac cases, and molecular autopsy identified an association between antiepileptic drugs or caffeine and pathogenic or likely pathogenic variants in arrhythmogenic genes. Specific substances could therefore play an essential role as triggers of SCD in genetically predisposed young people.


Subject(s)
Arrhythmias, Cardiac , Death, Sudden, Cardiac , Adolescent , Adult , Arrhythmias, Cardiac/genetics , Autopsy , Death, Sudden, Cardiac/etiology , High-Throughput Nucleotide Sequencing , Humans , Middle Aged , Retrospective Studies , Young Adult
14.
Lancet ; 399(10339): 1933, 2022 05 21.
Article in English | MEDLINE | ID: mdl-35598616
15.
JACC Clin Electrophysiol ; 8(5): 687-706, 2022 05.
Article in English | MEDLINE | ID: mdl-35589186

ABSTRACT

Congenital long QT syndrome (LQTS) encompasses a group of heritable conditions that are associated with cardiac repolarization dysfunction. Since its initial description in 1957, our understanding of LQTS has increased dramatically. The prevalence of LQTS is estimated to be ∼1:2,000, with a slight female predominance. The diagnosis of LQTS is based on clinical, electrocardiogram, and genetic factors. Risk stratification of patients with LQTS aims to identify those who are at increased risk of cardiac arrest or sudden cardiac death. Factors including age, sex, QTc interval, and genetic background all contribute to current risk stratification paradigms. The management of LQTS involves conservative measures such as the avoidance of QT-prolonging drugs, pharmacologic measures with nonselective ß-blockers, and interventional approaches such as device therapy or left cardiac sympathetic denervation. In general, most forms of exercise are considered safe in adequately treated patients, and implantable cardioverter-defibrillator therapy is reserved for those at the highest risk. This review summarizes our current understanding of LQTS and provides clinicians with a practical approach to diagnosis and management.


Subject(s)
Defibrillators, Implantable , Long QT Syndrome , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/prevention & control , Defibrillators, Implantable/adverse effects , Electrocardiography , Female , Heart , Humans , Long QT Syndrome/diagnosis , Long QT Syndrome/epidemiology , Long QT Syndrome/genetics , Male
16.
JCI Insight ; 7(12)2022 Jun 22.
Article in English | MEDLINE | ID: mdl-35579938

ABSTRACT

BACKGROUNDSudden cardiac death (SCD) remains a worldwide public health problem in need of better noninvasive predictive tools. Current guidelines for primary preventive SCD therapies, such as implantable cardioverter defibrillators (ICDs), are based on left ventricular ejection fraction (LVEF), but these guidelines are imprecise: fewer than 5% of ICDs deliver lifesaving therapy per year. Impaired cardiac metabolism and ATP depletion cause arrhythmias in experimental models, but to our knowledge a link between arrhythmias and cardiac energetic abnormalities in people has not been explored, nor has the potential for metabolically predicting clinical SCD risk.METHODSWe prospectively measured myocardial energy metabolism noninvasively with phosphorus magnetic resonance spectroscopy in patients with no history of significant arrhythmias prior to scheduled ICD implantation for primary prevention in the setting of reduced LVEF (≤35%).RESULTSBy 2 different analyses, low myocardial ATP significantly predicted the composite of subsequent appropriate ICD firings for life-threatening arrhythmias and cardiac death over approximately 10 years. Life-threatening arrhythmia risk was approximately 3-fold higher in patients with low ATP and independent of established risk factors, including LVEF. In patients with normal ATP, rates of appropriate ICD firings were several-fold lower than reported rates of ICD complications and inappropriate firings.CONCLUSIONTo the best of our knowledge, these are the first data linking in vivo myocardial ATP depletion and subsequent significant arrhythmic events in people, suggesting an energetic component to clinical life-threatening ventricular arrhythmogenesis. The findings support investigation of metabolic strategies that limit ATP loss to treat or prevent life-threatening cardiac arrhythmias and herald noninvasive metabolic imaging as a complementary SCD risk stratification tool.TRIAL REGISTRATIONClinicalTrials.gov NCT00181233.FUNDINGThis work was supported by the DW Reynolds Foundation, the NIH (grants HL61912, HL056882, HL103812, HL132181, HL140034), and Russell H. Morgan and Clarence Doodeman endowments at Johns Hopkins.


Subject(s)
Heart Failure , Ventricular Function, Left , Adenosine Triphosphate , Arrhythmias, Cardiac , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/prevention & control , Heart Failure/complications , Humans , Stroke Volume
17.
J Forensic Leg Med ; 89: 102369, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35576798

ABSTRACT

Cirrhosis cardiomyopathy is defined by cardiac dysfunction in cirrhotic patients. It is characterized by the reduced contractile response to stress and/or impaired diastolic relaxation associated with electrophysiological disturbances with unknown cardiac disease. Here we report a case of sudden death in a 44-year-old woman, with no personal and family medical history and in apparently good health before death. The death was occurred when performing agricultural activities. The autopsy revealed an elevated weight of the heart with heterogeneous myocardium. The liver was heavy and had a variegated appearance. The histologic examination showed fibrosis and partially disturbance of the texture of the left ventricular myocardial tissue with storiform patterns and circumscribed hypertrophic cardiomyocytes. The microscopic examination of the liver showed cirrhosis with no specific features of etiology. The death was attributed to arrythmia due to cirrhotic cardiomyopathy. Our case highlighted the importance of pathological examination to con-sider the diagnosis of cirrhotic cardiomyopathy in case of sudden death for patient with known or unknown cirrhosis.


Subject(s)
Cardiomyopathies , Heart Diseases , Adult , Autopsy , Cardiomyopathies/diagnosis , Death, Sudden/etiology , Death, Sudden, Cardiac/etiology , Female , Fibrosis , Heart Diseases/pathology , Humans , Liver Cirrhosis/complications , Liver Cirrhosis/pathology , Myocardium/pathology
18.
BMJ Open ; 12(5): e055557, 2022 05 10.
Article in English | MEDLINE | ID: mdl-35537790

ABSTRACT

PURPOSE: The rationale behind the SUDden cardiac Death in the Young (SUDDY) cohort was to provide a complete nationwide, high-quality platform with integrated multisource data, for clinical and genetic research on sudden cardiac death (SCD) in the young, with the ultimate goal to predict and prevent SCD. PARTICIPANTS: The cohort contains all SCD victims <36 years, in Sweden during the period 2000-2010. We assigned five population-based controls per case, together with parents of cases and controls, in total 15 633 individuals. Data of all individuals were extracted from multiple mandatory registries; the National Patient Registry, the Medical Birth Registry, the Prescribed Drug registry, the Cause of Death registry, the Multigeneration Registry, combined with socioeconomic data from Statistics Sweden. From SCD victims, the autopsy report, medical records, ECGs, parental information and biological samples were gathered. FINDINGS TO DATE: We identified 903 individuals diagnosed with SCD (67% men, 33% women). The cases comprised 236 infants <1 year of age (26%), 90 individuals aged 1-15 years (10%), 186 individuals aged 15-25 years (21%) and 391 aged 25-35 years (43%). Hospitalisations and outpatient clinic visits due to syncope were significantly more common among cases than controls. DNA obtained from dried blood spots tests (DBS) stored from birth was equally suitable as venous blood samples for high-throughput genetic analysis of SCD cases. FUTURE PLANS: We will explore the SUDDY cohort for symptoms and healthcare consumption, socioeconomic variables and family history of SCD. Furthermore, we will perform whole exome sequencing analysis on DNA of cases obtained from DBS or postmortem samples together with parental blood samples in search for gene variants associated with cardiac disease. The genetic analysis together with data compiled in the nationwide cohort is expected to improve current knowledge on the incidence, aetiology, clinical characteristics and family history of SCD.


Subject(s)
Death, Sudden, Cardiac , Electrocardiography , Cohort Studies , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Female , Humans , Incidence , Infant , Male , Risk Factors , Sweden/epidemiology
20.
Curr Sports Med Rep ; 21(5): 159-162, 2022 May 01.
Article in English | MEDLINE | ID: mdl-35522440

ABSTRACT

ABSTRACT: Preparticipation cardiovascular screening, designed to identify cardiovascular pathology responsible for sudden unexpected death, is recommended by all major professional medical organizations overseeing the clinical care of competitive athletes. Data from several large, prospective, cohort studies indicate that cardiac imaging findings consistent with inflammatory heart disease following COVID-19 infection are more common than most forms of heart disease associated with sudden death during exercise. This call-to-action document is intended to provide recommendations about how routine preparticipation cardiovascular screening for young competitive athletes - which has the capacity to detect both COVID-19 cardiovascular complications and pathology unrelated to infection - should be altered to account for recent scientific advances.


Subject(s)
COVID-19 , Cardiovascular Diseases , Cardiovascular System , Athletes , Cardiovascular Diseases/prevention & control , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/prevention & control , Electrocardiography/adverse effects , Humans , Mass Screening/methods , Pandemics , Physical Examination , Prospective Studies
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