Sudden arrhythmic death syndrome

BACKGROUND AND AIMS: The relationship between ethnicity and causes of sudden cardiac death (SCD) in athletes is poorly understood. OBJECTIVES: To investigate etiology of SCD among different ethnicities in a large cohort of athletes. METHODS: Between 1994 and November 2022, 7880 cases of SCD were consecutively referred from all over the United Kingdom to our national cardiac pathology centre; 848 (11%) were athletes. All cases underwent detailed autopsy evaluation by expert cardiac pathologists...

BACKGROUND: A rare gene variant in SCN5A can be found in approximately 20-25% of patients with Brugada syndrome (BrS). OBJECTIVE: The aim of this systematic review and meta-analysis is to evaluate: (1) differences in clinical characteristics of BrS patients with and without SCN5A rare variants and (2) the prognostic role of SCN5A for ventricular arrhythmias in BrS. METHODS: PubMed and Cochrane Central Register of Controlled Trials (CENTRAL) were systematically searched from inception to January 2024 to identify all relevant studies...

BACKGROUND: Mitral annular disjunction (MAD) refers to the arrhythmic mitral valve prolapse (MVP) syndrome associated with ventricular arrhythmias and sudden cardiac death. Although the pathophysiology of this disease is still under investigation, specific imaging criteria that establish the diagnosis have been recognized. In this article, we demonstrate most of these criteria using three-dimensional transthoracic echocardiography (3D-TTE) and provide added value in the management of MAD syndrome...

Although mitral valve prolapse (MVP) is the most prevalent valvular abnormality in Western countries and generally carries a good prognosis, a small subset of patients is exposed to a significant risk of malignant ventricular arrhythmias (VAs) and sudden cardiac death (SCD), the so-called arrhythmic MVP (AMVP) syndrome. Recent work has emphasized phenotypical risk features of severe AMVP and clarified its pathophysiology. However, the appropriate assessment and risk stratification of patients with suspected AMVP remains a clinical conundrum, with the possibility of both overestimating and underestimating the risk of malignant VAs, with the inappropriate use of advanced imaging and invasive electrophysiology study on one hand, and the catastrophic occurrence of SCD on the other...

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary arrhythmia syndrome predominantly affecting children and young adults. It manifests through bidirectional or polymorphic ventricular arrhythmia, often culminating in syncope triggered by physical exertion or emotional stress which can lead to sudden cardiac death. Most cases stem from mutations in the gene responsible for encoding the cardiac ryanodine receptor ( RyR2 ), or in the Calsequestrin 2 gene ( CASQ2 ), disrupting the handling of calcium ions within the cardiac myocyte sarcoplasmic reticulum...

Quadricuspid pulmonic valve (QPV) is a rare congenital abnormality and because of its difficult non-invasive assessment, it is usually discovered incidentally at autopsies (reported prevalence in post-mortem specimens ranges from 1 in 400 to 1 in 2000) [1,12]. Unlike a bicuspid pulmonary valve, it rarely presents with clinical complications, such as valvular insufficiency or stenosis [3]. Abnormal function is rarely reported in cases that are not associated with other congenital heart disease. With increased sophistication of imaging coincidental quadricuspid valves autopsy studies are important to understand the anatomical consequences of this finding...

INTRODUCTION: Maternal diabetes is a recognized risk factor for both short-term and long-term complications in offspring. Beyond the direct teratogenicity of maternal diabetes, the intrauterine environment can influence the offspring's cardiovascular health. Abnormalities in the cardiac sympathetic system are implicated in conditions such as sudden infant death syndrome, cardiac arrhythmic death, heart failure, and certain congenital heart defects in children from diabetic pregnancies...

The wearable cardioverter defibrillator (WCD) is becoming a more and more widely used instrument for the prevention of sudden cardiac death of patients either with a secondary prevention implantable cardioverter defibrillator indication or with a transient high risk of sudden cardiac death. Although clinical practice has demonstrated a benefit of protecting patients for a period as long as 3-6 months with such devices, the current European guidelines concerning ventricular arrhythmias and sudden cardiac death are still extremely restrictive in the patient selection in part because of the costs derived from such a prevention device, in part because of the lack of robust randomised trials...

BACKGROUND: Risk stratification in Brugada syndrome (BrS) remains controversial. In this respect, the role of electrophysiology study (EPS) has been subject of debate. In some centers, it is common practice to use an implantable loop recorder (ILR) after a negative EPS to help risk stratification. However, the diagnostic value of this approach has never been specifically addressed. OBJECTIVE: To describe the baseline characteristics and the main findings of a diagnostic work-up strategy using an ILR after a negative EPS in BrS...

BACKGROUND AND AIMS: Available data on continuous rhythm monitoring by implantable loop recorders (ILRs) in patients with Brugada syndrome (BrS) are scarce. The aim of this multi-centre study was to evaluate the diagnostic yield and clinical implication of a continuous rhythm monitoring strategy by ILRs in a large cohort of BrS patients and to assess the precise arrhythmic cause of syncopal episodes. METHODS: A total of 370 patients with BrS and ILRs (mean age 43...

BACKGROUND: This study aimed to investigate the characteristics and outcomes of patients diagnosed with Brugada syndrome (BrS) who underwent implantable loop recorder (ILR) insertion during routine clinical activity. METHODS: We conducted a comprehensive screening of all consecutive patients diagnosed with BrS at our institution. We analyzed baseline clinical characteristics, arrhythmic findings, and outcomes. RESULTS: Out of 147 BrS patients, 42 (29 %) received an ILR, 13 (9 %) underwent implantable cardioverter-defibrillator (ICD) placement, and 92 patients (63 %) continued regular cardiological follow-up...

Telemedicine and remote monitoring devices, including implantable loop recorders (ILR), are increasingly adopted in the cardiologic setting. These are valuable tools in the arrhythmic stratification of patients at risk of sudden cardiac death, providing a tailored therapeutic management to prevent lethal arrhythmias. We report a case of an asymptomatic 18-year-old boy with a family history of syncope and cardiac arrest, who had a diagnosis of Brugada syndrome with an inducible type 1 pattern and carrier of a missense mutation of the SCN5A gene...

BACKGROUND: Sudden cardiac death (SCD) may occur in apparently healthy individuals, including athletes. We report the diagnostic role of post-mortem genetic testing, molecular autopsy (MA), in elucidating the cause of SCD in athletes. METHODS: We reviewed a database of 6860 consecutive cases of SCD referred to our specialist cardiac pathology centre. All cases underwent detailed cardiac autopsy and 748 were deemed to be athletes. Of these, 42 (6%) were investigated with MA (28 using a targeted sequencing, 14 exome sequencing)...

BACKGROUND: Sudden cardiac death (SCD) is relatively common and may occur in apparently healthy individuals. The role of seasonal variation as a risk factor for SCD is poorly understood. The aim of this study was to investigate whether SCD exhibits a predilection for specific seasons. METHODS: We reviewed a database of 4751 cases of SCD (mean age 38 ± 17 years) referred to our center for cardiac pathology at St George's University of London between 2000 and 2018...

BACKGROUND: Early repolarization syndrome (ERS) is an idiopathic ventricular fibrillation (VF) associated with inferolateral J waves. While electrical storms (ES) in ERS is not rare, their characteristics and risk factors are not fully understood. OBJECTIVE: This study aimed to clarify the significance of ES in ERS. METHODS: We evaluated 44 patients with ERS who experienced VF/sudden cardiac death or arrhythmic syncope. We assessed clinical characteristics to identify the risk factors for ES...

INTRODUCTION: Sudden cardiac death (SCD) is a serious threat. In individuals under the age of 35 years sudden arrhythmic death is the most frequent cause. In younger persons, genetically determined cardiac diseases (eg, cardiomyopathies and ion-channel diseases) account for an important proportion of these cases. METHODS: We investigated the case of a 23-year-old male with SCD, specific ECG changes and left ventricular hypertrophy. Family history was significant for SCD in the paternal line...

Over the last three decades, what is referred to as Brugada syndrome (BrS) has developed from a clinical observation of initially a few cases of sudden cardiac death (SCD) in the absence of structural heart disease with ECG signs of "atypical right bundle brunch block" to a predominantly electrocardiographic, and to a lesser extent genetic, diagnosis. Today, BrS is diagnosed in patients without overt structural heart disease and a spontaneous Brugada type 1 ECG pattern regardless of symptoms...

Mitral valve prolapse (MVP) is the most common valve disease in the western world and recently emerged as a possible substrate for sudden cardiac death (SCD). It is estimated an annual risk of sudden cardiac death of 0.2 to 1.9% mostly caused by complex ventricular arrhythmias (VA). Several mechanisms have been recognized as potentially responsible for arrhythmia onset in MVP, resulting from the combination of morpho-functional abnormality of the mitral valve, structural substrates (regional myocardial hypertrophy, fibrosis, Purkinje fibers activity, inflammation), and mechanical stretch...

BACKGROUND: Few clinical data are available on NEXN mutation carriers, and the gene's involvement in cardiomyopathies or sudden death has not been fully established. Our objectives were to assess the prevalence of putative pathogenic variants in NEXN and to describe the phenotype and prognosis of patients carrying the variants. METHODS: DNA samples from consecutive patients with cardiomyopathy or sudden cardiac death/sudden infant death syndrome/idiopathic ventricular fibrillation were sequenced with a custom panel of genes...

BACKGROUND: Brugada syndrome (BrS) is associated with abnormal electrophysiological properties at right ventricular epicardium, consisting of fragmented electrograms extending well beyond QRS termination. We aimed to evaluate the utility of signal-averaged electrocardiogram (SA-ECG) for the noninvasive assessment of late potentials (LP) and risk stratification of BrS patients. METHODS: A prospective, observational, single-center study of BrS patients is submitted to SA-ECG with the determination of the total filtered QRS duration (fQRS), root mean square voltage of the 40 ms terminal portion of the QRS (RMS40), and duration of the low-amplitude electric potential component of the terminal portion of the QRS (LAS40)...