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Heart Failure Reviews Jul 2022Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and non-genetic etiologies, leading to left ventricular systolic dysfunction and... (Review)
Review
Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not explained by abnormal loading conditions or coronary artery disease. The clinical presentation can vary from asymptomatic to heart failure symptoms or sudden cardiac death (SCD) even in previously asymptomatic individuals. In the last 2 decades, there has been striking progress in the understanding of the complex genetic basis of DCM, with the discovery of additional genes and genotype-phenotype correlation studies. Rigorous clinical work-up of DCM patients, meticulous family screening, and the implementation of advanced imaging techniques pave the way for a more efficient and earlier diagnosis as well as more precise indications for implantable cardioverter defibrillator implantation and prevention of SCD. In the era of precision medicine, genotype-directed therapies have started to emerge. In this review, we focus on updates of the genetic background of DCM, characteristic phenotypes caused by recently described pathogenic variants, specific indications for prevention of SCD in those individuals and genotype-directed treatments under development. Finally, the latest developments in distinguishing athletic heart syndrome from subclinical DCM are described.
Topics: Cardiomyopathy, Dilated; Death, Sudden, Cardiac; Humans; Phenotype; Precision Medicine; Ventricular Dysfunction, Left
PubMed: 34263412
DOI: 10.1007/s10741-021-10139-0 -
Europace : European Pacing,... May 2023Sudden cardiac death and ventricular arrhythmias are a global health issue. Recently, a new guideline for the management of ventricular arrhythmias and prevention of... (Review)
Review
Sudden cardiac death and ventricular arrhythmias are a global health issue. Recently, a new guideline for the management of ventricular arrhythmias and prevention of sudden cardiac death has been published by the European Society of Cardiology that serves as an update to the 2015 guideline on this topic. This review focuses on 10 novel key aspects of the current guideline: As new aspects, public basic life support and access to defibrillators are guideline topics. Recommendations for the diagnostic evaluation of patients with ventricular arrhythmias are structured according to frequently encountered clinical scenarios. Management of electrical storm has become a new focus. In addition, genetic testing and cardiac magnetic resonance imaging significantly gained relevance for both diagnostic evaluation and risk stratification. New algorithms for antiarrhythmic drug therapy aim at improving safe drug use. The new recommendations reflect increasing relevance of catheter ablation of ventricular arrhythmias, especially in patients without structural heart disease or stable coronary artery disease with only mildly impaired ejection fraction and haemodynamically tolerated ventricular tachycardias. Regarding sudden cardiac death risk stratification, risk calculators for laminopathies, and long QT syndrome are now considered besides the already established risk calculator for hypertrophic cardiomyopathy. Generally, 'new' risk markers beyond left ventricular ejection fraction are increasingly considered for recommendations on primary preventive implantable cardioverter defibrillator therapy. Furthermore, new recommendations for diagnosis of Brugada syndrome and management of primary electrical disease have been included. With many comprehensive flowcharts and practical algorithms, the new guideline takes a step towards a user-oriented reference book.
Topics: Humans; Stroke Volume; Ventricular Function, Left; Arrhythmias, Cardiac; Death, Sudden, Cardiac; Heart; Defibrillators, Implantable
PubMed: 37102266
DOI: 10.1093/europace/euad091 -
Circulation. Cardiovascular Quality and... Aug 2023
Topics: Humans; Defibrillators, Implantable; Death, Sudden, Cardiac
PubMed: 37492957
DOI: 10.1161/CIRCOUTCOMES.123.010266 -
European Heart Journal Mar 2023This study aimed to report the long-term findings of the Italian programme of cardiovascular preparticipation screening (PPS) in young, competitive athletes.
AIMS
This study aimed to report the long-term findings of the Italian programme of cardiovascular preparticipation screening (PPS) in young, competitive athletes.
METHODS AND RESULTS
The study assessed the diagnostic yield for diseases at risk of sudden cardiac death (SCD), the costs of serial evaluations, and the long-term outcomes of PPS in a large population of Italian children (age range, 7-18 years). The PPS was repeated annually and included medical history, physical examination, resting electrocardiogram, and stress testing; additional tests were reserved for athletes with abnormal findings. Over an 11-year study period, 22 324 consecutive children [62% males; mean age, 12 (interquartile range, 10-14) years at first screening] underwent a total of 65 397 annual evaluations (median 2.9/child). Cardiovascular diseases at risk of SCD were identified in 69 children (0.3%) and included congenital heart diseases (n = 17), channelopathies (n = 14), cardiomyopathies (n = 15), non-ischaemic left ventricular scar with ventricular arrhythmias (n = 18), and others (n = 5). At-risk cardiovascular diseases were identified over the entire age range and more frequently in children ≥12 years old (n = 63, 91%) and on repeat evaluation (n = 44, 64%). The estimated cost per diagnosis was 73 312€. During a follow-up of 7.5 ± 3.7 years, one child with normal PPS findings experienced an episode of resuscitated cardiac arrest during sports activity (event rate of 0.6/100.000 athletes/year).
CONCLUSION
The PPS programme led to the identification of cardiovascular diseases at risk of SCD over the whole study age range of children and more often on repeat evaluations. Among screened children, the incidence of sport-related cardiac arrest during long-term follow-up was low.
Topics: Male; Child; Humans; Adolescent; Female; Death, Sudden, Cardiac; Sports; Electrocardiography; Athletes; Heart Arrest; Mass Screening
PubMed: 36760222
DOI: 10.1093/eurheartj/ehad017 -
Heart Rhythm Jan 2021This international multidisciplinary document intends to provide clinicians with evidence-based practical patient-centered recommendations for evaluating patients and...
This international multidisciplinary document intends to provide clinicians with evidence-based practical patient-centered recommendations for evaluating patients and decedents with (aborted) sudden cardiac arrest and their families. The document includes a framework for the investigation of the family allowing steps to be taken, should an inherited condition be found, to minimize further events in affected relatives. Integral to the process is counseling of the patients and families, not only because of the emotionally charged subject, but because finding (or not finding) the cause of the arrest may influence management of family members. The formation of multidisciplinary teams is essential to provide a complete service to the patients and their families, and the varied expertise of the writing committee was formulated to reflect this need. The document sections were divided up and drafted by the writing committee members according to their expertise. The recommendations represent the consensus opinion of the entire writing committee, graded by Class of Recommendation and Level of Evidence. The recommendations were opened for public comment and reviewed by the relevant scientific and clinical document committees of the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS); the document underwent external review and endorsement by the partner and collaborating societies. While the recommendations are for optimal care, it is recognized that not all resources will be available to all clinicians. Nevertheless, this document articulates the evaluation that the clinician should aspire to provide for patients with sudden cardiac arrest, decedents with sudden unexplained death, and their families.
Topics: Arrhythmias, Cardiac; Consensus; Death, Sudden, Cardiac; Family; Global Health; Humans; Morbidity; Survival Rate
PubMed: 33091602
DOI: 10.1016/j.hrthm.2020.10.010 -
Journal of the American College of... May 2021
Topics: Cardiopulmonary Resuscitation; Death, Sudden, Cardiac; Humans
PubMed: 33985680
DOI: 10.1016/j.jacc.2021.03.321 -
European Journal of Heart Failure May 2020
Topics: Death, Sudden, Cardiac; Heart Failure; Humans; Myocardial Infarction
PubMed: 31975546
DOI: 10.1002/ejhf.1744 -
Annual Review of Medicine Jan 2024Dilated cardiomyopathy (DCM) is defined as dilation and/or reduced function of one or both ventricles and remains a common disease worldwide. An estimated 40% of cases... (Review)
Review
Dilated cardiomyopathy (DCM) is defined as dilation and/or reduced function of one or both ventricles and remains a common disease worldwide. An estimated 40% of cases of familial DCM have an identifiable genetic cause. Accordingly, there is a fast-growing interest in the field of molecular genetics as it pertains to DCM. Many gene mutations have been identified that contribute to phenotypically significant cardiomyopathy. DCM genes can affect a variety of cardiomyocyte functions, and particular genes whose function affects the cell-cell junction and cytoskeleton are associated with increased risk of arrhythmias and sudden cardiac death. Through advancements in next-generation sequencing and cardiac imaging, identification of genetic DCM has improved over the past couple decades, and precision medicine is now at the forefront of treatment for these patients and their families. In addition to standard treatment of heart failure and prevention of arrhythmias and sudden cardiac death, patients with genetic cardiomyopathy stand to benefit from gene mechanism-specific therapies.
Topics: Humans; Cardiomyopathy, Dilated; Arrhythmias, Cardiac; Death, Sudden, Cardiac; Mutation; Heart Failure
PubMed: 37788487
DOI: 10.1146/annurev-med-052422-020535 -
Ugeskrift For Laeger Feb 2023In this case report, a previously asymptomatic 11-year-old boy presented with sudden palpitations and syncope. He eventually went into cardiac arrest and was...
In this case report, a previously asymptomatic 11-year-old boy presented with sudden palpitations and syncope. He eventually went into cardiac arrest and was successfully resuscitated. The ECG showed pre-excited atrial fibrillation degenerating into pulseless ventricular tachycardia. The patient was found to have Wolff-Parkinson-White syndrome (WPW) with an accessory pathway between right atrium and ventricle which was successfully ablated. Sudden cardiac death (SCD) is rare in WPW, however, early diagnosis is essential for eliminating the risk of SCD.
Topics: Male; Humans; Child; Wolff-Parkinson-White Syndrome; Heart Arrest; Death, Sudden, Cardiac; Atrial Fibrillation; Syncope; Electrocardiography
PubMed: 36892318
DOI: No ID Found -
Sports Medicine (Auckland, N.Z.) Aug 2023Since the nationally televised cardiac arrest of American National Football League player Damar Hamlin in January 2023, commotio cordis has come to the forefront of... (Review)
Review
Since the nationally televised cardiac arrest of American National Football League player Damar Hamlin in January 2023, commotio cordis has come to the forefront of public attention. Commotio cordis is defined as sudden cardiac arrest due to direct trauma to the precordium resulting in ventricular fibrillation or ventricular tachycardia. While the precise incidence of commotio cordis is not known due to a lack of standardized, mandated reporting, it is the third most common cause of sudden cardiac death in young athletes, with more than 75% of cases occurring during organized and recreational sporting events. Given that survival is closely tied to how quickly victims receive cardiopulmonary resuscitation and defibrillation, it is crucial to raise awareness of commotio cordis so that athletic trainers, coaches, team physicians, and emergency medical personnel can rapidly diagnose and treat this often-fatal condition. Broader distribution of automated external defibrillators in sporting facilities as well as increased presence of medical personnel during sporting events would also likely lead to higher survival rates.
Topics: Humans; Commotio Cordis; Cardiopulmonary Resuscitation; Death, Sudden, Cardiac; Arrhythmias, Cardiac; Football
PubMed: 37382827
DOI: 10.1007/s40279-023-01873-6