Sudden unexplained death

X is a 22-month-old White male infant with a complex medical history, including diagnoses of FBXO11 mutation, hypotonia, restrictive lung disease and mild intermittent asthma, laryngotracheomalacia, obstructive sleep apnea (OSA), feeding difficulties with a history of aspiration, gastroesophageal reflux disease (GERD), and developmental delays. X's medical presentation has resulted in multiple prior medical admissions for respiratory failure due to acute illnesses, procedures and treatments including gastrojejunostomy (GJ) tube dependence, supraglottoplasty to reshape tissues of the upper larynx, and the use of biphasic positive airway pressure (BiPAP) at night and room air during the day when he is at baseline...

Hypertrophic cardiomyopathy (HCM), defined clinically by the presence of unexplained left ventricular hypertrophy (LVH) with wall-thickness ≥ 1.5 cm is a phenotype in search of a diagnosis which is most often a genetically determined, cardiac exclusive or systemic disorder. Familial evaluation and genetic testing are required for definitive diagnosis. The role of genetic findings in predicting disease development, outcomes, and increasingly to guide management is evolving with access to larger data sets...

BACKGROUND: There are limited real-world data about the extended prognosis of patients with drug-induced type 1 Brugada electrocardiogram (ECG). OBJECTIVE: We assessed the clinical outcomes and predictors of life-threatening arrhythmias in patients with drug-induced type 1 Brugada ECG. MATERIALS AND METHODS: This multicenter retrospective study, conducted at 21 Italian and Swiss hospitals from July 1997 to May 2021, included consecutive patients with drug-induced type 1 ECG...

The diagnosis of cardiomyopathy often relies on the subjective judgment of pathologists due to the variety of morphologic changes in the condition and its low specificity. This uncertainty can contribute to unexplained sudden cardiac deaths (USCD). To enhance the accuracy of hereditary cardiomyopathy diagnosis in forensic medicine, we proposed a combination of molecular autopsy and pathologic autopsy. By analyzing 16 deceased patients suspected of cardiomyopathy, using whole exome sequencing (WES) in molecular autopsy, and applying a combined diagnostic strategy, the study found pathogenic or likely pathogenic variants in 6 cases...

The objective of this study is to investigate the impact of heparin-induced thrombocytopenia syndrome on individuals undergoing hemodialysis. Heparin-induced thrombocytopenia in hemodialysis patients (HD-HIT) is a condition believed to occur in hemodialysis patients who experience a sudden decrease in platelet count or unexplained blood clotting, particularly when there is evidence of thrombosis in the dialysis circuit despite adequate heparin dosage. HD-HIT is thought to be caused by a drug reaction and hyper immunoglobulin syndrome...

OBJECTIVE: Evidence on the increased risk of sports-related sudden cardiac arrest and death (SCA/D) and the potential benefit of cardiovascular preparticipation screening (PPS) in children is limited. We assessed the burden and circumstances of SCA/D and the diagnostic yield of cardiovascular PPS in children aged 8-15 years. METHODS: Data on the incidence and causes of SCA/D from 2011 to 2020 were obtained from the Veneto region (Italy) sudden death registry, hospital records and local press...

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder characterised by unexplained left ventricular hypertrophy in the absence of abnormal loading conditions. The global prevalence of HCM is estimated to be 1 in 250 in the general population. It is caused due to mutations in genes coding for sarcomeric proteins. α-tropomyosin (TPM1) is an important protein in the sarcomeric thin filament which regulates sarcomere contraction. Mutations in TPM1 are known to cause hypertrophic cardiomyopathy, dilated cardiomyopathy and left ventricular non-compaction...

KEY CLINICAL MESSAGE: Ventricular myocardial rupture is a rare complication of myocardial infarction. It occurs within hours to weeks after an infarction. Mortality is high. Antemortem diagnosis is a challenge in low-resource settings, leading to potential misdiagnosis. ABSTRACT: Left ventricular myocardial rupture is a potentially fatal yet common complication in acute myocardial infarction patients. Rupture can occur as early as hours after an infarction. However, rupture may also occur later in the first week in the setting of myocardial necrosis and neutrophilic infiltration...

Background Sudden infant death syndrome (SIDS) refers to the unexpected and unexplained death of a child under one year old. The pathogenesis of SIDS remains unclear. However, certain factors such as the child's sleeping position, sleeping on a soft mattress, and maternal smoking have been suggested to contribute to its occurrence. The objective of this study was to evaluate the level of awareness of SIDS among Saudi Arabian women in 2023...

Many physicians and researchers are familiar with the tragic phenomenon known as sudden infant death syndrome (SIDS), the leading cause of postneonatal mortality in high-resource countries. A less familiar category of unexplained deaths is the problem of sudden unexplained death in childhood (SUDC), a more rare and unusual presentation of sudden death in children who are no longer infants and whose reasons for death defy explanation. A substantial body of research in SUDC now supports the possibility of an overlap with epilepsy and associated sudden death in that context (SUDEP)...

BACKGROUND AND OBJECTIVES: More than 2,900 US children aged younger than 4 years die from unknown causes each year, accounting for more than 219,000 life years lost annually. They are mostly sleep-related and unwitnessed with unremarkable autopsies, limiting our understanding of death mechanisms. We sought to understand potential mechanisms of death by evaluating videos of sudden deaths in toddlers. METHODS: In our registry of 301 sudden unexplained child deaths, a series of 7 consecutively enrolled cases with home video recordings of the child's last sleep period were independently assessed by 8 physicians for video quality, movement, and sound...

OBJECTIVE: Patients with epilepsy have high risk of experiencing uncommon causes of death. This study aimed to evaluate patients who underwent unusual deaths related to epilepsy and identify factors that may contribute to these deaths and may also include sudden unexpected death in epilepsy (SUDEP). METHODS: We analyzed 5291 cases in which a postmortem imaging (PMI) study was performed using plane CT, because of an unexplained death. A rapid troponin T assay was performed using peripheral blood samples...

Mitral annular disjunction (MAD) refers to atrial displacement of the hinge point of the mitral valve annulus from the ventricular myocardium. MAD leads to paradoxical expansion of the annulus in systole and may often be associated with mitral valve prolapse (MVP), leaflet degeneration, myocardial and papillary muscle fibrosis, and, potentially, malignant cardiac arrhythmias. Patients with MAD and MVP may present similarly, and MAD is potentially the missing link in explaining why some patients with MVP experience adverse outcomes...

BACKGROUND: Trabecular complexity can be quantified by fractal analysis based on cine images of cardiovascular magnetic resonance (CMR), yielding fractal dimension (FD) index. We aimed to investigate the prognostic value of biventricular FD in patients with hypertrophic cardiomyopathy (HCM). METHODS: This retrospective study included 284 (192 men, median age 53 years) patients with HCM who underwent CMR, with median follow-up of 24 months. Biventricular trabeculae complexity was quantified as FD using short-axis cine images...

BACKGROUND: Knowledge of toxicological findings among sports-related sudden cardiac death (SrSCD) is scarce. OBJECTIVES: This study aimed to describe postmortem toxicology findings in a multinational cohort of young SrSCD. METHODS: Patients with sudden cardiac death (SCD) aged 12 to 49 years with a complete post mortem were included from Denmark, Spain, and Australia. Postmortem findings were compared between SrSCD and non-SrSCD, and toxicology findings in SrSCD were assessed...

Sudden cardiac arrest (SCA) is a common cause of death. The majority of SCA is caused by ventricular arrhythmia due to underlying CHD. Aborted SCA with no apparent diagnosis after initial assessment with ECG, echocardiography and coronary assessment is referred to as unexplained cardiac arrest (UCA). Systematic evaluation of such patients may reveal a specific diagnosis in up to half of patients before a diagnosis of idiopathic VF is assigned. Specific diagnoses include inherited cardiac conditions, such as latent cardiomyopathies or inherited primary electrical disease...

BACKGROUND: We hypothesized that a prolonged follow-up of survivors of unexplained sudden cardiac arrest (USCA) would subsequently unmask electrical heart disorders in a significant proportion of cases. PATIENTS AND METHODS: We retrospectively analyzed all out-of-hospital cardiac arrest (OHCA) admitted alive in our cardiac arrest center over 20-years (2002-2022). The diagnosis of USCA was made when no etiology was found after thorough initial hospital investigations...

Vascular gas embolism is a rare medical condition, resulting from the existence of air or gas in the venous or arterial system. Gas embolism is associated with a wide range of circulatory, cardiovascular, and neurological complications that can lead to sudden and unexplained death. Despite the recent increase in related studies, gas embolism remains under-reported with a poor understanding of its genesis and pathophysiology. In this work, intravascular bubble formation is investigated in an array of biomimetic microscale systems, where the endogenous generation of gas bubbles is induced by variations in the surrounding pressure...

BACKGROUND: Multiple causes of death are increasingly reported, particularly in older populations. Rates of multiple causes of young sudden death have not been quantified. METHOD: The End Unexplained Cardiac Death (EndUCD) registry was utilised to identify cases of young sudden death (aged 1-50 years) referred for forensic assessment from April 2019 to April 2022. Causes of death were coded according to whether one or more underlying causes of death were identified...

Spina bifida (SB) is one of the most common birth defects in children. The care for patients with SB continues to evolve, and there has been notable improvement in survival outcomes, degree of disability and quality of life for these children. However, patients with SB continue to remain at higher risk for sleep-related breathing disorders (SRBD), unexplained sudden death, and potential alterations in their sleep chronotype. Previous studies report on abnormalities in the spinal cord, brainstem function, and dysfunction of upper airway maintenance as the likely mechanisms behind SRBD that is commonly seen in SB...