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Aortic regurgitation (AR) is a common valvular heart disease, but the optimal timing of surgical intervention remains controversial. In the natural history of chronic severe AR, sudden death is rare, and the annual mortality rate is comparatively low. Considering the hemodynamic features of combined volume and pressure overload and long-term compensation in patients with chronic AR, symptoms related to AR do not frequently occur. Therefore, the progression of left ventricular (LV) dysfunction is a key factor in determining the timing of surgical intervention in patients with severe chronic AR. In addition to symptoms, an ejection fraction 45 mm are appropriate cutoff values for surgical intervention in Japanese patients, whereas LV end-diastolic diameter is not a good indicator. An LVESD index of 25 mm/m2is controversial, because adjusting for body size may cause overcorrection in Japanese patients who have a small body size compared with Westerners. Accumulation of data from the Japanese population is indispensable for establishing guidelines on optimal management of patients with chronic AR.

Objectives This study aimed to characterize the clinical and histopathological features of arrhythmogenic right ventricular cardiomyopathy (ARVC) in English Bulldogs, American Bulldogs, and Bulldog-type mixed breed dogs and assess affected Bulldogs for a striatin gene mutation previously reported in Boxers with ARVC. Animals Seventy-one Bulldogs fit the inclusion criteria. Genetic analysis was performed on five dogs. Cardiac post-mortem evaluations were performed on two dogs. Methods Medical records from a single veterinary cardiology group (CVCA) were retrospectively evaluated. Tissue and blood samples were submitted for histopathological analysis and genetic testing in select patients. Results Presenting complaints included syncope (38%), arrhythmia (81.7%), or murmur (34.2%) documented on examination. On presentation, congestive heart failure (CHF) was diagnosed in 22 (31%) dogs, and 58 (81.7%) had ventricular arrhythmias. On bivariable analyses, the two-dimensional (2D) left atrial-to-aortic root ratio (LA:Ao) was the only prognostic variable significantly associated with survival time. Dogs with 2D LA:Ao below the mean (1.41) had longer median survival to all-cause mortality (12 months; 95% confidence interval [CI] 6.0–15.0 months) than those with 2D LA:Ao above the mean (four months; 95% CI 2.0–6.0 months; p=0.0384). Most dogs (54%) died from cardiac disease, with 42.1% experiencing sudden death. The median time from diagnosis to cardiac death was four months. Conclusions Arrhythmogenic right ventricular cardiomyopathy affects Bulldogs with both arrhythmogenic and dilated-type phenotypes. Despite variable arrhythmia severity and predominantly right-sided involvement in many dogs, an increase in left atrial size was the only significant predictor of mortality in this sample of dogs.

Refractory epilepsy confers a considerable lifetime risk of sudden unexplained death in epilepsy (SUDEP). Mechanisms may overlap with sudden cardiac death (SCD), particularly regarding QTc prolongation. Guidelines in the United States do not mandate the use of electrocardiography (ECG) in diagnostic evaluation of seizures or epilepsy.The purpose of this study was to determine the frequency of ECG use and of QT prolongation, and whether QT prolongation predicts mortality in patients with seizures.We performed a retrospective cohort study including all patients seen at Mayo Clinic in Rochester, Minnesota, from January 1, 2000, to July 31, 2015, with index evaluation for seizure or epilepsy. Patients with an ECG were categorized by the presence of a prolonged QT interval with a primary endpoint of all-cause mortality after the 15-year observation period.Optimal cutoff QT intervals most predictive of mortality were identified. Median age was 40.0 years. An ECG was obtained in 18,222 patients (57.4%). After patients with confounding ECG findings were excluded, primary prolonged QT intervals were seen in 223 cases (1.4%), similar to the general population. Kaplan-Meier analysis demonstrated a significant increase in mortality (Cox hazard ratio [HR] 1.90; 95% confidence interval [CI] 1.76-2.05) for prolonged optimal cutoff QT, maintained after adjustments for age, Charlson comorbidity index, and sex (HR 1.48; 95% CI 1.37-1.59).Use of ECG in diagnostic workup of patients with seizures is poor. A prolonged optimal cutoff QTc interval predicts all-cause mortality in patients evaluated for seizure and those diagnosed with epilepsy. We advocate the routine use of a 12-lead ECG at index evaluation in patients with seizure or epilepsy.

Introduction/objectives Whether the aldosterone antagonist spironolactone has beneficial survival effects in dogs with dilated cardiomyopathy (DCM) is not known. The primary objective of the study was to evaluate the effect of spironolactone, when added to conventional therapy, on survival time in Doberman pinschers with congestive heart failure (CHF) due to DCM. Animals Sixty-seven client-owned Doberman pinschers with CHF due to DCM. Materials and methods The trial design was prospective, randomized, blinded, and placebo controlled. Dogs were randomized to receive 50–75 mg of spironolactone twice daily (n = 34) or a placebo (n = 33), in addition to standard CHF therapy. Follow-up visits were targeted every 1–6 weeks until endpoint. Quality-of-life questionnaire and physical examination were performed at every visit, while renal biochemistry, ECG, echocardiography, and thoracic radiography were reassessed as needed. The primary endpoint was time to cardiac death, defined as death or euthanasia from CHF or sudden death. Results Median time to primary endpoint in the spironolactone group (183 days) was not statistically significantly different than that for the placebo group (124 days) (p = 0.254). The development of atrial fibrillation (AF) was significantly less frequent in the spironolactone group (n = 7) than the placebo group (n = 15, p = 0.037). Conclusions While median time to cardiac death in the spironolactone group was not statistically significantly different than that in the placebo group, adding spironolactone to conventional therapy resulted in reduced occurrence of AF.

Objectives This study sought to report our single-center experience with left cardiac sympathetic denervation (LCSD) for long QT syndrome (LQTS) since 1973. Background LCSD is still underutilized because clinicians are often uncertain whether to use it versus an implantable cardioverter-defibrillator (ICD). Methods We performed LCSD in 125 patients with LQTS (58% women, mean QT interval corrected for frequency [QTc] 527 ± 60 ms, 90% on beta blockers) with a follow-up of 12.9 ± 10.3 years. They were retrospectively divided into 4 groups according to the clinical/genetic status: very high risk (n = 18, symptomatic in the first year of life or with highly malignant genetics), with aborted cardiac arrest (ACA; n = 31), with syncope and/or ICD shocks on beta blockers (n = 45), in primary prevention (n = 31). Results After LCSD, 17% in the very high risk group remained asymptomatic, compared with 52%, 47%, and 97% in the other 3 groups (P Conclusions We provide definitive evidence for the long-term efficacy of LCSD in LQTS. The degree of antiarrhythmic protection is influenced by patient’s specificity and amount of QTc shortening. This novel approach to the analysis of the outcome allows cardiologists to rationally decide and tailor their management strategies to the individual features of their patients.

Heart failure with reduced ejection fraction (HFrEF) and chronic obstructive pulmonary disease (COPD) individually cause significant morbidity and mortality. Their coexistence is associated with even worse outcomes, partly due to suboptimal heart failure therapy, especially underutilisation of beta-blockers. Our aim was to investigate outcomes in HFrEF patients with and without COPD, and the effects of mineralocorticoid receptor antagonists (MRAs) on outcomes.\ud \ud Methods and results:\ud \ud We studied the effect of MRA therapy in a post-hoc pooled analysis of 4397 HFrEF patients in the RALES and EMPHASIS-HF trials. The primary endpoint was the composite of heart failure hospitalisation or cardiovascular death. A total of 625 (14.2%) of the 4397 patients had COPD. Patients with COPD were older, more often male, and smokers, but less frequently treated with a beta-blocker. In patients with COPD, event rates (per 100 person-years) for the primary endpoint and for all-cause mortality were 25.2 (95% confidence interval 22.1–28.7) and 17.2 (14.9–19.9), respectively, compared with 19.9 (18.8–21.1) and 12.8 (12.0–13.7) in participants without COPD. The risks of all-cause hospitalisation and sudden death were also higher in patients with COPD. The benefit of MRA, compared with placebo, was consistent in patients with or without COPD for all outcomes, e.g. hazard ratio for the primary outcome 0.66 (0.50–0.85) for COPD and 0.65 (0.58–0.73) for no COPD (interaction p = 0.93). MRA-induced hyperkalaemia was less frequent in patients with COPD.\ud \ud Conclusions:\ud \ud In RALES and EMPHASIS-HF, one-in-seven patients with HFrEF had coexisting COPD. HFrEF patients with COPD had worse outcomes than those without. The benefits of MRAs were consistent, regardless of COPD status.

The decision to perform an intervention for asymptomatic severe aortic stenosis (AS) requires careful weighing of the risks of early intervention against those of watchful observation, and the optimal timing of intervention remains controversial. With improvements in surgical and postoperative care, long-term survival after surgical aortic valve (AV) replacement (AVR) is excellent in low-risk patients, and the emergence of transcatheter AVR may change the thresholds for early preemptive intervention, although a durability issue has to be resolved. A watchful observation strategy also has a risk of sudden death, irreversible myocardial damage, and increase in operative risk while waiting for symptoms to develop. We have been waiting for a prospective randomized trial to solve the intense debate between early AVR and watchful observation, and the RECOVERY (Randomized Comparison of Early Surgery versus Conventional Treatment in Very Severe Aortic Stenosis) trial provides the evidence to support early AVR for asymptomatic severe AS. Risk assessment with severity of AS and staging classification may help to facilitate the identification of patients who may benefit from early intervention. Based on the results of the RECOVERY trial, early surgical AVR is reasonable for asymptomatic patients with very severe AS (aortic jet velocity ≥4.5 m/s) and low surgical risk. Further evidence is required to extend the indications of surgical AVR and to consider transcatheter AVR in asymptomatic patients with severe AS.

Pulmonary artery aneurysms (PAAs) are rare, but clinically important because their rupture can cause sudden death. We present the first case of an asymptomatic patient with an unruptured PAA that was successfully diagnosed by dynamic digital chest radiography (DDCR) and was treated surgically. DDCR is a state-of-the-art temporally resolved radiographic technique that offers high-quality fluoroscopy-like images at a low radiation dose. Although noncontrast chest computed tomography (CT) revealed only a nonspecific nodule, DDCR delineated this lesion as a pulsatile nodule synchronized with cardiac pulsations, establishing the diagnosis of PAA. This diagnosis was confirmed by CT pulmonary angiography and surgery.

Background The aim of our study was to assess the performance of the new American College of Cardiology (ACC)/American Heart Association (AHA) Guidelines, with respect to sudden cardiac death (SCD) prevention, in comparison with the established risk score of the European Society of Cardiology (hypertrophic cardiomyopathy [HCM] Risk-SCD), in a large Mediterranean cohort of HCM patients. Methods The clinical and imaging characteristics of 784 HCM patients (mean age at first evaluation 52 ± 16 years, 67.2% males) were analyzed retrospectively. The sensitivity, specificity, and negative predictive value for SCD events of the presence of ≥1 risk factor for SCD according to the ACC/AHA Guidelines 2020 and of the HCM Risk-SCD≥6% and HCM Risk-SCD≥4% were estimated during follow-up. Results During follow-up, 47 (6%) patients suffered an SCD event. The presence of ≥1 major risk factor for SCD according to the new ACC/AHA Guidelines had 96% sensitivity (95% CI 85.5-99.5%) with modest specificity of 59% (95% CI 55-62.2%) and negative predictive value of 99.5% (95% CI 98.2-99.9%). On the contrary, HCM- Risk-SCD≥6% had a relatively low sensitivity (32%, 95% CI 19.1-47.1%) and high specificity of 95% (95% CI 93.1-96.4%), whereas, HCM-Risk-SCD≥4% had sensitivity of 60% (95% CI 44-74%) and specificity of 83.9% (95% CI 80-85.6%). Both the HCM Risk-SCD cut-off values demonstrated lower negative predictive value but higher accuracy than the ACC/AHA algorithm for SCD prediction. Conclusion The novel ACC/AHA proposed algorithm identifies most of the patients with an SCD event with the cost of numerous defibrillator implantations. HCM-Risk-SCD demonstrated higher specificity, whereas its sensitivity and negative predictive value are modest.

For over 50 years, surgical septal myectomy has been the preferred treatment for drug-refractory heart failure symptoms in obstructive hypertrophic cardiomyopathy (HCM). However, given the relatively youthful adult ages at which HCM surgery is usually performed, it is informative to evaluate longer-term results of myectomy after ≥10 years. We identified 139 consecutive obstructive HCM patients (50 ± 15 years of age; 55% men) who underwent surgical myectomy, 2003 to 2010 at Tufts HCM Center and followed 11.3 ± 2.7 years (range to 17). Operative mortality was low (0.6%) and left ventricular (LV) outflow gradients at rest were reduced from 56 ± 40 mm Hg preoperatively to 1 ± 7 mm Hg postoperatively, durable over the study period, with no patient requiring reoperation for the residual gradient. Over follow-up, 129 of 139 patients (93%) were alive ≥10 years after myectomy, including 17 patients ≥15 years. Of 118 patients with complete long-term clinical follow-up data, 109 (92%) experienced clinical improvement to New York Heart Association classes I or II. In 9 patients (8%) refractory class III/IV symptoms reoccurred 6.6 ± 3.9 years postoperatively, including 4 who ultimately underwent a heart transplant. After myectomy, there were 2 late HCM-related deaths, but none suddenly; notably 6 patients (12%) with prophylactic implantable cardioverter-defibrillators experienced appropriate therapy terminating ventricular tachycardia/ventricular fibrillation after myectomy. Survival following myectomy was 91% at 10 years (95% confidence interval: 85, 96%) not different from the age- and gender-matched general United States population (log-rank p = 0.64). In conclusion, myectomy provides permanent abolition of outflow gradients with reversal of heart failure and highly favorable long-term survival, representing a low-risk:high-benefit option when performed in experienced HCM centers. Myectomy did not protect absolutely against arrhythmic sudden death events, underscoring the importance of risk stratification in operative patients.

Pulmonary arteriovenous fistulae (PAFs) occur congenitally or are acquired. A PAF can cause hypoxemia, sudden death from rupture, abscess formation, and embolism. Treatment for PAF is transcatheter embolization or surgery. Transcatheter embolization is the first choice of treatment; however, this treatment is impossible to perform if a patient has had tricuspid or pulmonary valve replacement. In this paper, we describe a case of PAFs complicated with tricuspid valve replacement with a ball valve (which had been performed 40 years earlier) that was treated with transcatheter embolization.

International audience; ObjectivesThis study aimed at investigating the additional contribution of coronary artery calcium (CAC) score to SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) risk equation (SAFEHEART-RE) for cardiovascular risk prediction in heterozygous familial hypercholesterolemia (HeFH).BackgroundCommon cardiovascular risk equations are imprecise for HeFH. Because of the high phenotype variability of HeFH, CAC score could help to better stratify the risk of atherosclerotic cardiovascular disease (ASCVD).MethodsREFERCHOL (French Registry of Familial Hypercholesterolemia) and SAFEHEART are 2 ongoing national registries on HeFH. We analyzed data from primary prevention HeFH patients undergoing CAC quantification. We used probability-weighted Cox proportional hazards models to estimate HRs. Area under the receiver-operating characteristic curve (AUC) and net reclassification improvement (NRI) were used to compare the incremental contribution of CAC score when added to the SAFEHEART-RE for ASCVD prediction. ASCVD was defined as coronary heart disease, stroke or transient ischemic attack, peripheral artery disease, resuscitated sudden death, and cardiovascular death.ResultsWe included 1,624 patients (mean age: 48.5 ± 12.8 years; men: 45.7%) from both registries. After a median follow-up of 2.7 years (interquartile range: 0.4-5.0 years), ASCVD occurred in 81 subjects. The presence of a CAC score of >100 was associated with an HR of 32.05 (95% CI: 10.08-101.94) of developing ASCVD as compared to a CAC score of 0. Receiving-operating curve analysis showed a good performance of CAC score alone in ASCVD prediction (AUC: 0.860 [95% CI: 0.853-0.869]). The addition of log(CAC + 1) to SAFEHEART-RE resulted in a significantly improved prediction of ASCVD (AUC: 0.884 [95% CI: 0.871-0.894] for SAFEHEART-RE + log(CAC + 1) vs AUC: 0.793 [95% CI: 0.779-0.818] for SAFEHEART-RE; P < 0.001). These results were confirmed also when considering only hard cardiovascular endpoints. The addition of CAC score was associated with an estimated overall net reclassification improvement of 45.4%.ConclusionsCAC score proved its use in improving cardiovascular risk stratification and ASCVD prediction in statin-treated HeFH.

Aims Fabry disease (FD) is an X‐linked genetic disease caused by mutations in the GLA gene that leads to deficient activity of lysosomal enzymes, accumulation of globotriaosylceramide in multi‐organ systems, and variant clinical manifestations. We aimed to detail the clinical and genetic spectrum of FD in Chinese families. Methods and results Five male probands with unexplained left ventricular hypertrophy and their family members were investigated. Genetic screening was available in 11 subjects of the 5 families, 10 of whom proved to be carriers of either GLA gene mutation, including 3 previous reported missense mutations (c.128G > A, c.811G > A, c.950T > C), 1 novel missense mutation (c.37G > C), and 1 novel deletion mutation (c.1241delT). A total of 17 patients were definitely or possibly diagnosed of FD, given their clinical manifestations and hereditary nature of FD. Echocardiography demonstrated normal cardiac structure and function in six female patients. Electrocardiographic pre‐excitation occurred in 80% (4/5) of men and 16.7% (1/6) of women. Six patients (6/14, 42.9%) had chronic kidney disease with decreased renal function and all were male (6/7, 85.7%). Six patients presented with acroparesthesia, hypohidrosis, or both. Three female patients and two male patients experienced sudden death, and one male patient with the mutation (c.128G > A) died of progressive heart failure, between 41 and 66 years of age. Conclusions We reported five unrelated families of FD with different GLA mutations. Clinical manifestations were highly heterogeneous between male and female patients even within the same family. Female patients showed relatively low risks of structural heart disease and renal insufficiency. However, the long‐term outcomes might be adverse in both sexes. Our study underlines the importance of molecular screening of the GLA gene for early identification and clinical decision making in patients with FD.

Vasorin (VASN) is an important transmembrane protein associated with development and disease. However, it is not clear whether the death of mice with VASN deficiency (VASN −/−) is related to cardiac dysfunction. The aim of this research was to ascertain whether VASN induces pathological cardiac hypertrophy by targeting myosin light chain 7 (MYL7). VASN −/− mice were produced by CRISPR/Cas9 technology and inbreeding. PCR amplification, electrophoresis, real‐time PCR and Western blotting were used to confirm VASN deficiency. Cardiac hypertrophy was examined by blood tests, histological analysis and real‐time PCR, and key downstream factors were identified by RNA sequencing and real‐time PCR. Western blotting, immunohistochemistry and electron microscopy analysis were used to confirm the downregulation of MYL7 production and cardiac structural changes. Our results showed that sudden death of VASN −/− mice occurred 21–28 days after birth. The obvious increases in cardiovascular risk, heart weight and myocardial volume and the upregulation of hypertrophy marker gene expression indicated that cardiac hypertrophy may be the cause of death in young VASN −/− mice. Transcriptome analysis revealed that VASN deficiency led to MYL7 downregulation, which induced myocardial structure abnormalities and disorders. Our results revealed a pathological phenomenon in which VASN deficiency may lead to cardiac hypertrophy by downregulating MYL7 production. However, more research is necessary to elucidate the underlying mechanism.

A multivariate risk score model was proposed by Sieira et al in 2017 for sudden death in Brugada syndrome; their validation in 150 patients was highly encouraging, with a C-index of 0.81; however, this score is yet to be validated by an independent group. A total of 192 records of patients with Brugada syndrome were collected from 2 centers in the United Kingdom and retrospectively scored according to a score model by Sieira et al. Data were compiled summatively over follow-up to mimic regular risk re-evaluation as per current guidelines. Sudden cardiac death survivor data were considered perievent to ascertain the utility of the score before cardiac arrest. Scores were compared with actual outcomes. Sensitivity in our cohort was 22.7%, specificity was 57.6%, and C-index was 0.58. In conclusion, up to 75% of cardiac arrest survivors in this cohort would not have been offered a defibrillator if evaluated before their event. This casts doubt on the utility of the score model for primary prevention of sudden death. Inherent issues with modern risk scoring strategies decrease the likelihood of success even in robustly designed tools such as the Sieira score model.

In heart failure (HF), acute decompensation can occur quickly and unexpectedly because of worsening of chronic HF or to new‐onset HF diagnosed for the first time (‘de novo’). Patients presenting with acute HF (AHF) have a poor prognosis comparable with those with acute myocardial infarction, and any delay of treatment initiation is associated with worse outcomes. Recent HF guidelines and recommendations have highlighted the importance of a timely diagnosis and immediate treatment for patients presenting with AHF to decrease disease progression and improve prognosis. However, based on the available data, there is still uncertainty regarding the optimal ‘time‐to‐treatment’ effect in AHF. Furthermore, the immediate post‐worsening HF period plays an important role in clinical outcomes in HF patients after hospitalization and is known as the ‘vulnerable phase’ characterized by high risk of readmission and early death. Early and intensive treatment for HF patients in the ‘vulnerable phase’ might be associated with lower rates of early readmission and mortality. Additionally, in the chronic stable HF outpatient, treatments are often delayed or not initiated when symptoms are stable, ignoring the risk for adverse outcomes such as sudden death. Consequently, there is a dire need to better identify HF patients during hospitalization and after discharge and treating them adequately to improve their prognosis. HF is an urgent clinical scenario along all its stages and disease conditions. Therefore, time plays a significant role throughout the entire patient's journey. Therapy should be optimized as soon as possible, because this is beneficial regardless of severity or duration of HF. Time lavished before treatment initiation is recognized as important modifiable risk factor in HF.

Background: Sudden cardiac death (SCD) remains a major open clinical and public health problem, with an estimated 300,000 deaths per year in the United States. The possibility of identifying potential SCD victims is limited by the large size of the large number of SCD victims and the apparent time-dependent risk of sudden death. The latter refers to the tendency of SCDs to detect other cardiovascular events during the most dangerous period of 6–18 months following a major cardiovascular event and the risk of subsequent collapse. The combination of time and lake size provides the basis for future research to find more vulnerable people. Pathologically, SCD can be seen as an interaction between some electrophysiological events that causes abnormalities in cardiac structure, temporal dysfunction, and malignant arrhythmias. Structural deformities represent an anatomical matrix of chronic risk and include the effects of electrophysiological anatomical abnormalities such as coronary artery disease, left ventricular hypertrophy, myopathic ventricles, and bypass leaflets in the myocardium. Conclusion: Macroscopic cardiac features are common in about one-third of young SCD victims. However, in 79% of them, histological studies reveal hidden pathological features such as local myocarditis, heart disease and motor system disorders. A total of 16 (6%) victims had no evidence of systemic heart disease and the mechanism of SCD was not described.

Ventricular diverticulum is a rare congenital malformation. Although most patients are asymptomatic, it can present with rupture and sudden death, for which surgical repair is indicated. The authors report the case of a 5-year-old boy with a prenatal diagnosis of an isolated left ventricular diverticulum. It was decided for surgical closure; however, a persisting leakage at the patch repair site was observed, for which a transcatheter percutaneous closure approach was used, achieving complete occlusion of the defect. Transcatheter closure of suitable ventricular diverticula is a safe and effective option.

Coronary artery anomalies involve either their origin, course, or termination of the vessel. Coronary artery anomalies are congenital and relatively few develop symptoms, which can include potentially serious effects like arrhythmia, chest pain, syncope, myocardial infarction, or sudden death. Conventional coronary angiography has been used extensively in the past few decades for evaluation of coronary anomalies. With recent advancements in the software and hardware, noninvasive nature, and excellent temporal and spatial resolution; coronary computed tomographic angiography (CTA) is now the mainstay in the diagnosis of coronary arterial anomalies. Many studies have shown better performance of cardiac CTA compared to invasive angiography in detection of anomalous coronary arteries.

Background Brugada syndrome is a rare inherited arrhythmic syndrome with a coved type 1 ST-segment elevation on ECG and an increased risk of sudden death. Many studies have evaluated risk stratification performance based on ECG-derived parameters. However, since historical Brugada patient cohorts included mostly paper ECGs, most studies have been based on manual ECG parameter measurements. We hypothesized that it would be possible to run automated algorithm-based analysis of paper ECGs. We aimed: 1) to validate the digitization process for paper ECGs in Brugada patients; and 2) to quantify the acute class I antiarrhythmic drug effect on relevant ECG parameters in Brugada syndrome. Methods A total of 176 patients (30% female, 43 ± 13 years old) with induced type 1 Brugada syndrome ECG were included in the study. All of the patients had paper ECGs before and during class I antiarrhythmic drug challenge. Twenty patients also had a digital ECG, in whom printouts were used to validate the digitization process. Paper ECGs were scanned and then digitized using ECGScan software, version 3.4.0 (AMPS, LLC, New York, NY, USA) to obtain FDA HL7 XML format ECGs. Measurements were automatically performed using the Bravo (AMPS, LLC, New York, NY, USA) and Glasgow algorithms. Results ECG parameters obtained from digital and digitized ECGs were closely correlated (r = 0.96 ± 0.07, R2 = 0.93 ± 0.12). Class I antiarrhythmic drugs significantly increased the global QRS duration (from 113 ± 20 to 138 ± 23, p Conclusions Automated algorithm-based measurements of depolarization and repolarization parameters from digitized paper ECGs are reliable and could quantify the acute effects of class 1 antiarrhythmic drug challenge in Brugada patients. Our results support using computerized automated algorithm-based analyses from digitized paper ECGs to establish risk stratification decision trees in Brugada syndrome.

Abnormalities of an athlete’s electrocardiogram may be the result of an underlying heart disease and may carry a risk of sudden death. It is important that electrocardiographic abnormalities are correctly distinguished. We present the case of a young marathon athlete presenting with syncope and incomplete right bundle block pattern suggestive of a type 2 Brugada pattern. (Level of Difficulty: Advanced.), Central Illustration

Matrix metalloproteinase (MMP) activity is tightly regulated by the endogenous tissue inhibitors (TIMPs), and dysregulated activity contributes to extracellular matrix remodelling. Accordingly, MMP/TIMP balance is associated with atherosclerotic plaque progression and instability, alongside adverse post-infarction cardiac fibrosis and subsequent heart failure. Here, we demonstrate that prolonged high-fat feeding of apolipoprotein (Apo)e-deficient mice triggered the development of unstable coronary artery atherosclerosis alongside evidence of myocardial infarction and progressive sudden death. Accordingly, the contribution of select MMPs and TIMPs to the progression of both interrelated pathologies was examined in Apoe-deficient mice with concomitant deletion of Mmp7, Mmp9, Mmp12, or Timp1 and relevant wild-type controls after 36-weeks high-fat feeding. Mmp7 deficiency increased incidence of sudden death, while Mmp12 deficiency promoted survival, whereas Mmp9 or Timp1 deficiency had no effect. While all mice harboured coronary disease, atherosclerotic burden was reduced in Mmp7-deficient and Mmp12-deficient mice and increased in Timp1-deficient animals, compared to relevant controls. Significant differences in cardiac fibrosis were only observed in Mmp-7-deficient mice and Timp1-deficient animals, which was associated with reduced capillary number. Adopting therapeutic strategies in Apoe-deficient mice, TIMP-2 adenoviral-overexpression or administration (delayed or throughout) of a non-selective MMP inhibitor (RS-130830) had no effect on coronary atherosclerotic burden or cardiac fibrosis. Taken together, our findings emphasise the divergent roles of MMPs on coronary plaque progression and associated post-MI cardiac fibrosis, highlighting the need for selective therapeutic approaches to target unstable atherosclerosis alongside adverse cardiac remodelling while negating detrimental adverse effects on either pathology, with targeting of MMP-12 seeming a suitable target.

Therapeutic treatment of severe COVID-19 infection involves the administration of multiple pharmacologic agents to reduce the risk of serious complications; this may result in drug interactions and possible adverse reactions and induced cardiotoxicity. The risk–benefit ratio associated with the use of medications to treat COVID-19 should be carefully monitored. In addition, the severe COVID-19 patient may experience cardiac damage, and alteration of normal cardiac electrophysiology function. Severe COVID-19 with cardiac involvement and the risk of drug-induced adverse reactions may cause cardiac arrhythmias, including long qt syndrome, which in some cases may lead to sudden death. In this short review we briefly review the pharmacological agents used to treat severe COVID-19 with increased risk of causing long qt forms.

A genetic risk of sudden cardiac arrest and sudden death due to an arrhythmic cause, known as sudden cardiac death (SCD), has become apparent from epidemiological studies in the general population and in patients with ischaemic heart disease. However, genetic susceptibility to sudden death is greatest in young people and is associated with uncommon, monogenic forms of heart disease. Despite comprehensive pathology and genetic evaluations, SCD remains unexplained in a proportion of young people and is termed sudden arrhythmic death syndrome, which poses challenges to the identification of relatives from affected families who might be at risk of SCD. In this Review, we assess the current understanding of the epidemiology and causes of SCD and evaluate both the monogenic and the polygenic contributions to the risk of SCD in the young and SCD associated with drug therapy. Finally, we analyse the potential clinical role of genomic testing in the prevention of SCD in the general population.

Introduction Studies have reported higher risks of mortality for patients with schizophrenia, compared to the general population. This study aimed to evaluate the risk of all-cause, sudden death, and cardiovascular mortality among patients with schizophrenia in terms of types of antipsychotics. Methods A retrospective cohort study assessed the risk of mortality among antipsychotic-treated patients with schizophrenia. The study linked the Taiwan National Health Insurance (NHI) claims and National Register of Death databases from 2001 to 2015. Patients were hierarchically assigned to the following index antipsychotic treatment groups: atypical long acting injection (LAI), typical LAI, atypical oral, and typical oral. Results A total of 68,159 antipsychotic-treated patients with schizophrenia were analyzed. Under the hierarchical grouping, the largest percentages of patients were on atypical oral antipsychotic regimens (65.51%), followed by typical oral (14.00%), typical LAI (12.84%), and atypical LAI (7.65%). Typical oral patients had the highest incidence of all-cause mortality of 27.48 per 1000 patient-years and the atypical LAI group had the lowest incidence (13.95 per 1000 patient-years). Compared to typical oral users, there were lower risks of all-cause mortality for users of atypical LAI (aHR = 0.62, 95% CI: 0.47–0.81), typical LAI (aHR = 0.65, 95% CI: 0.55–0.78), and atypical orals (aHR = 0.55, 95% CI: 0.49–0.62). Conclusion Compared to typical oral users, we found a lower risk of all-cause mortality, sudden death, and cardiovascular mortality among schizophrenia users of LAIs and oral atypicals. Further research is warranted to characterize the risk of mortality among users of more recently available LAIs in the Asia Pacific region and elsewhere.

Pulmonary arterial dissection (PAD) is a rare and often lethal complication of chronic pulmonary arterial hypertension (PAH), which may occurs in patients with idiopathic pulmonary arterial hypertension (IPAH) and potentially in those with connective tissue disorders. While rare, sudden death often occurs secondary to acute cardiac tamponade, as the pulmonary artery dissects into the pericardium; this diagnosis is often made postmortem. Nevertheless, with the proliferation of multidetector computed tomography (MDCT) as a diagnostic test, patients may be identified very early after symptom onset, prompting rapid intervention with decreased morbidity and mortality. We report a case of IPAH complicated by pulmonary artery aneurysm (PAA) and PAD, diagnosed by CT pulmonary angiogram (CTPA), and treated with bilateral lung transplantation, pulmonic valve replacement, and re-anastomosis of the donor main PA to a pulmonary valve conduit.

Background Certain types of enteroviruses, including coxsackieviruses, cause encephalitis, and other neurological complications. However, these pathogens rarely cause fatal infections, especially in immunocompetent infants. In this study, we present a rare case of acute encephalopathy caused by coxsackievirus A2 (CV-A2), which progressed rapidly in a previously healthy female child. Case presentation In June 2013, a 26-month-old female child from Kanagawa, Japan, was found unresponsive during sleep. She was healthy until that morning. Her temperature was 37 °C at 08:00. She was feeling fine and went to the nursery that same morning. However, her condition worsened around noon. Therefore, she went home and slept at around 13:00. Surprisingly, after 2 h, her parents checked on her and found that she was lying on her back and was not breathing. Hence, she was immediately taken to a hospital by ambulance, but she was declared dead on arrival at the hospital. Subsequently, pathological autopsy and pathogenetic analysis, including multiple pathogen detection real-time PCR, were conducted to investigate the cause of death. The examination results revealed that she had an infectious respiratory disease and acute encephalopathy due to a CV-A2 infection. Conclusions Based on our findings, we concluded that a previously healthy girl who had no immediate history of underlying medical condition were susceptible to death by acute encephalopathy due to CV-A2 infections. We proposed this conclusion because the patient’s condition progressed rapidly in less than 2 h and eventually led to her death. This is the first report on an acute encephalitis-dependent death in a child due to CV-A2 infection.

Background Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly where the left main coronary artery arises from the pulmonary artery, instead of the coronary sinus of the ascending aorta. ALCAPA is divided into infant and adult types. Life-threatening complications such as malignant arrhythmia and sudden death could ensue in adult type of ALCAPA. Imaging is the current preferred modality for ALCAPA. It is indeed a challenge to diagnose ALCAPA due to its non-specific clinical presentation and laboratory findings. We report a case of adult type ALCAPA presented with unstable angina surprisingly surviving into adulthood with no symptoms prior to presentation, which is extremely rare. Case presentation A 53-year-old lady presented with sudden onset of chest pain and worsening shortness of breath. She was initially treated as unstable angina. Physical examination revealed normal heart sound. Computed tomography coronary angiography (CTCA) showed an anomalous origin of the left coronary artery from the posterior wall of the proximal pulmonary artery, compatible with ALCAPA. The anomalous left coronary artery bifurcates into left anterior descending and left circumflex arteries. Cardiothoracic surgeon planned for occlusion of ALCAPA via the pulmonary artery, owing to the fact that unfeasible rerouting in the presence of well-established collateral supply. Conclusions ALCAPA is a rare and life-threatening condition in adults which may lead to myocardial infarction and sudden death in untreated cases. CTCA is one of the preferred modern imaging modality in ALCAPA owing to its superior ability for direct visualization of the anomaly. Hence, early identification and surgical intervention of the anomaly are paramount to reduce the morbidity and mortality.

Depending on the stage of the disease, autopsy findings of COVID-19 may include a spectrum of cardiopulmonary pathologies including alveolar hyaline membrane formation, vascular thrombosis, and intracardiac thrombi. Identification of a COVID-19 positive decedent in the absence of clinical history relies primarily on post-mortem nasopharyngeal (NP) or oropharyngeal (OP) swabs for real time polymerase chain reaction (RT-PCR). In the absence of definitive microbiology testing, post-mortem computed tomography (PMCT) may be a powerful adjunct tool for screening. Persistence of pathological changes may prolong physiological alterations and increase the risk of cardiopulmonary compromise. This current case outlines the forensic presentation, utilization of screening tools including PMCT, and the autopsy findings of a recent toxicology related sudden death case in the context of severe sequelae of COVID-19 pneumonia. This case demonstrates the limitation of NP and OP swabs in the post-mortem setting, the value of PMCT as an adjunct screening tool, and raises the consideration of COVID-19 sequelae as a potential contributing risk factors in sudden death cases in the community.

Idiopathic giant cell myocarditis (GCM) is a rare rapidly progressing and usually fatal autoimmune disorder, which predominantly affects middle-aged people. It is usually associated with other autoimmune disorders, such as Crohn’s disease, rheumatoid arthritis, ulcerative colitis. We report an autopsy case of sudden death of a 38-year-old woman. At autopsy the heart was enlarged, with a motley appearance on sections. Microscopic examination showed abundant inflammatory infiltrates consisting of lymphocytes, leukocytes and multinucleated giant cells. Different staining methods and immunohistochemical examinations were performed for the diagnosis of GCM.

Ein 17-jahriger Patienten mit ventrikularer Extrasystolie und normaler linksventrikularer Funktion wurde nach erfolgloser Katheterablation zur Reablation vorgestellt. Im Langzeit-EKG fiel eine massive, uber den gesamten Tag verteilte polymorphe ventrikulare Extrasystolie auf. Der Patient berichtete uber gelegentliche Lahmungserscheinungen, in seinem Gesicht fielen weit auseinanderstehende Augen, ein tiefsitzender Ohrenansatz und eine sehr hohe Stirn auf. Diese 3 Auffalligkeiten ergaben eine Verdachtsdiagnose, die molekularbiologisch bestatigt wurde und eine vollig andere Therapiestrategie zur Folge hatte.

Despite the decrease in infant mortality in our conditions by almost 7 times in comparison with the pre-revolutionary one, its further decrease still remains one of the most urgent tasks of Soviet health care.

A 26-year-old man who suddenly collapsed and died was found at autopsy to have a ruptured aortic aneurysm which had the classic "tree bark" appearance of tertiary syphilis. Tracking of blood into the pericardial sac had resulted in sudden death from cardiac tamponade. Serological results were consistent with syphilis and HIV was excluded. Sudden death in a young HIV-negative man from the effects of syphilis is exceedingly rare nowadays.

Introdução: A corrida de maratona é um esporte aeróbico que requer treinamento de alto volume. Corredores de maratona podem eventualmente estar expostos a condições ambientais desfavoráveis associadas a alterações no volume sanguíneo e nível de hidratação que podem aumentar o risco de ocorrência de arritmias cardíacas que podem provocar parada cardíaca e morte súbita. Objetivo: Identificar os riscos à vida existentes para os corredores de maratona relacionados às ocorrências de morte súbita e parada cardíaca e as causas mais prevalentes destes eventos. Métodos: Revisão integrativa, de natureza descritivo-qualitativa nas bases de dados: Google, Google Acadêmico, Medline, Scielo e Pubmed. Resultados: As taxas de incidência de morte súbita variaram entre 0,75 a 2,0 por 100.000 corredores enquanto as taxas de parada cardíaca variaram de 1,01 a 2,6 por 100.000 corredores sendo os homens mais susceptíveis a estes eventos. Entre as causas de morte súbita e parada cardíaca os estudos apontam que em atletas mais idosos (idade > 45 anos) a doença arterial coronariana é a mais prevalente e em atletas mais jovens (idade < 45 anos) causas estruturais e congênitas são as mais comuns a exemplo de cardiomiopatia hipertrófica. A maior parte dos eventos de morte súbita e parada cardíaca ocorreram no último quartil da prova ou após a linha de chegada. Conclusão: Os riscos de morte súbita e parada cardíaca em maratonas são baixos e maiores em homens, sendo a doença arterial coronariana e cardiomiopatia hipertrófica as causas mais prevalentes destes eventos.

Bodies from the water are not commonly encountered in everyday practice, either by the forensic pathologist or by the coroner's pathologist. The body recovered from water can pose particular difficulty to the unsuspecting pathologist, especially if there is evidence of decomposition or if the body is injured. However, it is important to have an understanding for the necessity of the post-mortem examination and to identify those findings which may support drowning or immersion, in the absence of other relevant findings. Limited autopsy has no place in the pathological examination of a body recovered from water as arriving at a conclusion of drowning relies on excluding all other causes. Currently, it is recognized that non-invasive autopsy is not ideal in diagnosing death in cases recovered from water and therefore conventional invasive post-mortem examination with histology and toxicology remains paramount.

Practical relevance: The feline cardiomyopathies are the most prevalent type of heart disease in adult domestic cats. Several forms have been identified (see Parts 2 and 3), with hypertrophic cardiomyopathy (HCM) being the most common. Clinically the cardiomyopathies are often indistinguishable. Cats with subclinical cardiomyopathy may or may not have characteristic physical examination findings (eg, heart murmur, gallop sound), or radiographic cardiomegaly. Cats with severe disease may develop signs of heart failure (eg, dyspnea, tachypnea) or systemic arterial thromboembolism (ATE; eg, pain and paralysis). Sudden death is possible. Treatment usually does not alter the progression from subclinical to clinical disease and often the treatment approach, once clinical signs are apparent, is the same regardless of the type of cardiomyopathy. However, differentiating cardiomyopathy from normal variation may be important prognostically. Patient group: Domestic cats of any age from 3 months upward, of either sex and of any breed, can be affected. Mixed-breed cats are most commonly affected but certain breeds are disproportionately prone to developing HCM. Diagnostics: Subclinical feline cardiomyopathies may be suspected based on physical examination findings, thoracic radiographs and cardiac biomarker results but often the disease is clinically silent. The definitive clinical confirmatory test is echocardiography. Left heart failure (pulmonary edema and/or pleural effusion) is most commonly diagnosed radiographically, but point-of-care ultrasound and amino terminal pro-B-type natriuretic peptide (NT-proBNP) biomarker testing can also be useful, especially when the stress of taking radiographs is best avoided. Key findings: Knowledge of pathophysiological mechanisms helps the practitioner identify the feline cardiomyopathies and understand how these diseases progress and how they manifest clinically (heart failure, ATE). Existing diagnostic tests have strengths and limitations, and being aware of these can help a practitioner deliver optimal recommendations regarding referral. Conclusions: Several types of feline cardiomyopathies exist in both subclinical (mild to severe disease) and clinical (severe disease) phases. Heart failure and ATE are the most common clinical manifestations of severe cardiomyopathy and are therapeutic targets regardless of the type of cardiomyopathy. The long-term prognosis is often guarded or poor once overt clinical manifestations are present. Areas of uncertainty: Some cats with presumed cardiomyopathy do not have echocardiographic features that fit the classic cardiomyopathies (cardiomyopathy – nonspecific phenotype). Although no definitive treatment is usually available, understanding how cardiomyopathies evolve remains worthy of investigation.

Background Purkinje ectopics (PurkEs) are major triggers of idiopathic ventricular fibrillation (VF). Identifying clinical factors associated with specific PurkE characteristics could yield insights into the mechanisms of Purkinje-mediated arrhythmogenicity. Objective The purpose of this study was to examine the associations of clinical, environmental, and genetic factors with PurkE origin in patients with PurkE-initiated idiopathic VF. Methods Consecutive patients with PurkE-initiated idiopathic VF from 4 arrhythmia referral centers were included. We evaluated demographic characteristics, medical history, clinical circumstances associated with index VF events, and electrophysiological characteristics of PurkEs. An electrophysiology study was performed in most patients to confirm the Purkinje origin. Results Eighty-three patients were included (mean age 38 ± 14 years; 44 [53%] women), of whom 32 had a history of syncope. Forty-four patients had VF at rest. PurkEs originated from the right ventricle (RV) in 41 patients (49%), from the left ventricle (LV) in 36 (44%), and from both ventricles in 6 (7%). Seasonal and circadian distributions of VF episodes were similar according to PurkE origin. The clinical characteristics of patients with RV vs LV PurkE origins were similar, except for sex. RV PurkEs were more frequent in men than in women (76% vs 24%), whereas LV and biventricular PurkEs were more frequent in women (81% vs 19% and 83% vs 17%, respectively) (P Conclusion PurkEs triggering idiopathic VF originate dominantly from the RV in men and from the LV or both ventricles in women, adding to other sex-related arrhythmias such as Brugada syndrome or long QT syndrome. Sex-based factors influencing Purkinje arrhythmogenicity warrant investigation.

Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). CTD features include developmental delay, seizures, and autism spectrum disorder. This study was designed to investigate CTD cardiac phenotype and sudden death risk. We performed a cross-sectional analysis of CTD males between 2017 and 2020. Subjects underwent evaluation with electrocardiogram (ECG), echocardiography, and ambulatory ECG with comparable analysis in creatine transporter deficient mice (Slc6a8−/y) using ECG, echocardiography, exercise testing, and indirect calorimetry. Eighteen subjects with CTD (18 males, age 7.4 [3.8] years) were evaluated: seven subjects (39%) had QTc ≥ 470 milliseconds: 510.3 ± 29.0 vs. 448.3 ± 15.9, P

Background Anomalous aortic origin of a coronary artery (AAOCA) is the second leading cause of sudden death in youth. However, its significance and optimal management in adults is poorly understood. Our objective is to characterize AAOCA in a large single-center adult cohort based on coronary anatomic variants and surgical management strategies. Methods We reviewed imaging, clinic, and operative reports for 645 adults with an encounter diagnosis code of congenital coronary anomaly from July 2015 to July 2017. After excluding other congenital heart defects, we characterized 167 patients with AAOCAs by anatomic variant, symptoms at diagnosis, indication for advanced imaging, and if performed, surgical repair. To describe the anatomic variant, we classified the origin and course by following the atomization scheme developed by the Congenital Heart Surgeon’s Society’s AAOCA registry. Results Among adults with AAOCA, the anomalous origin involved the right coronary artery in 57% (96 of 167), left main coronary artery in 23% (39 of 167), left anterior descending in 2% (4 of 167), circumflex in 16% (26 of 167), and multiple coronaries in 1% (2 of 167). Anomalous right coronary arteries were diagnosed at an older median age than anomalous left main coronary arteries (55 vs 51 years, respectively; P = .026). Surgical repair of AAOCA occurred in 22% (36 of 167) of patients. Concomitant cardiac surgical procedures accompanied 36% (13 of 36) of them. No deaths occurred over a median follow-up of 2.5 years. Conclusions Most patients in our single-center AAOCA registry were diagnosed in the presence of cardiac symptoms. Concomitant aortic valve disease and coronary atherosclerotic burden complicate both the evaluation and surgical approach to adult AAOCA repair.

The association of mitral valve prolapse (MVP) with ventricular arrhythmias has long been known and has generally been considered a benign condition. In recent years, however, a small but not negligible risk of malignant ventricular arrhythmias and sudden cardiac death has been documented in the large population of subjects with MVP. The main predictors of major arrhythmic risk identified so far include history of syncope, ventricular repolarization abnormalities in the inferior-lateral electrocardiogram leads, right bundle branch block morphology of ventricular ectopic beats, finding of areas of myocardial fibrosis on cardiac magnetic resonance, and mitral annular disjunction (MAD) on echocardiogram, as well as a possible pro-arrhythmic genetic substrate. The stratification of arrhythmic risk, with the active search for red flags and in particular of MAD, is important to identify patients with the malignant arrhythmic variant of MVP in whom to implement closer surveillance and possible therapeutic interventions.

Chagas disease is a parasitic illness caused by Trypanosoma cruzi. This is an intracellular parasite that can cause cardiomyopathy, megaesophagus and megacolon in the chronic phase of the disease. One of the characteristics is sudden death due to heart failure. In this study, a 15-month-old, intact female bat-eared fox (Otocyon megalotis) kept in a private collection presented for sudden death with no preceding signs of illness. Annual health exam was unremarkable one month prior. On gross necropsy, yellow-white, irregular lesions were found in the ventricles near the apex of the heart. Histopathology found severe focally extensive suppurative myocarditis and PCR was positive for Trypanosoma cruzi within the heart tissue. To date, this is the only reported case of a bat-eared fox infected with Trypanosoma cruzi.

espanolLas cardiopatias congenitas son defectos estructurales del corazon presentes al nacimiento. Con la mejora de la asistencia y las tecnicas quirurgicas, hoy muchos pacientes con cardiopatias congenitas llegan a la edad adulta. Estos pacientes requieren un seguimiento de por vida, ya que presentan un alto riesgo de eventos cardiovasculares, asi como un aumento de la mortalidad por insuficiencia cardiaca y muerte subita. En la primera parte de esta actualizacion, se abordan complicaciones comunes a las cardiopatias congenitas, como la insuficiencia cardiaca, las arritmias, la endocarditis infecciosa, la hipertension pulmonar y la cianosis. Posteriormente, se discuten en detalle la anatomia y fisiopatologia subyacentes a cada defecto, asi como las principales tecnicas quirurgicas empleadas en su reparacion, con el objetivo de comprender las complicaciones especificas que aparecen a largo plazo y como abordarlas. EnglishCongenital heart diseases are structural defects of the heart that are present at birth. With improved care and surgical techniques, many patients with congenital heart disease now reach adulthood. These patients require lifelong follow-up, as they are at high risk of cardiovascular events, and increased mortality from heart failure and sudden death. In the first part of this update, we address complications common to congenital heart disease, such as heart failure, arrhythmias, infective endocarditis, pulmonary hypertension, and cyanosis. We then discuss in detail the anatomy and pathophysiology underlying each defect, and the main surgical techniques used for their repair, to gain an understanding of the specific complications that arise in the long term and how to address them.

The system of death investigation in England and Wales is complex, resulting in a distinction between ‘non-forensic’ and ‘forensic’ medicolegal autopsies. This article reviews the medicolegal investigation of sudden death and the actions of the police at the scene, and features in the history, external examination and internal examination that ‘non-forensic’ pathologists should be attune to in their everyday practice.

An 81-year-old woman presented with a 2-year history of progressive dysarthria and gait disturbance. Subsequently, she developed orthostatic hypotension, obstructive sleep apnea, right-sided resting tremor, and rigidity. Together with characteristic findings of imaging studies, she was diagnosed with multiple system atrophy (MSA). Despite progressive dysphagia and repeated choking episodes, the patient elected not to use artificial feeding or tracheostomy. She died suddenly at age 91 after 12 years of illness. The autopsy revealed neuropathological features of both MSA and of Parkinson’s disease. The peripheral autonomic ganglia revealed both pre- and postganglionic involvement by synucleinopathy, which may have underscored the sudden death of the patient. The patient survived 10 years after onset, despite the presence of multiple poor prognostic factors in MSA including the onset of old age and early appearance of orthostatic hypotension and falls, in addition to the complication of PD pathology found by autopsy. Multidisciplinary team approach and her preserved cognitive function may have been contributory to the long-term survival.

Exercise associated deaths (EADs) in horses are a problem for the equestrian industry. Sudden death (SD) is responsible for approximately 20% of EADs. The underlying cause of SD is suspected to be cardiovascular disease but often cannot be determined post-mortem. User-friendly cardiac monitors are needed for large scale investigations of arrhythmias associated with SD in horses. We hypothesised that novel wearable devices would provide exercising electrocardiograms (ECGs) of sufficient diagnostic quality for this purpose. Diagnostic quality of ECGs generated by two wearable devices (W2nd™ and Polar Equine™) were compared to simultaneous recordings with a telemetry unit (Televet™) in 5 Thoroughbreds completing 43 separate submaximal exercise tests on a high-speed treadmill. Maximal heart rate (HRmax) generated by mobile applications (HRmaxapp), HRmax after manual correction (HRmaxcorr), percentage of diagnostic ECGs (%diag) at the gallop, and overall quality assessed by visual analogue scale (VAS) were assessed by a blinded observer. HRmaxcorr did not differ significantly between groups. HRmaxapp was significantly lower for W2nd (166.8/min, 95% confidence interval (CI): 160.5-173.1/min) but did not differ significantly between Televet (178.8/min 95% CI: 165.8-191.1/min) and Polar (181.3/min, 95% CI: 174.5-188.1/min). HRmaxcorr was accurate and precise in all runs. HRmaxapp was within a priori limits of agreement in 16/23 W2nd and 18/19 Polar recordings. %diag was significantly lower (77.1%, 95% CI: 67.4-86.8) for W2nd than Polar (100%, 95% CI: 89.9-110.3). VAS was lower for W2nd (46.2, 95% CI: 35.5-57.0) than Polar (90.6, 25% CI: 79.4-101.9). In conclusion, wearable devices appear to be promising tools for investigation of equine exercising arrhythmias in large-scale studies.

Few cases of natural sudden death presenting as an undiagnosed lymphoma have been reported in the literature, especially in adolescents. Herein we provide a report of sudden death caused by undiagnosed classic Hodgkin lymphoma (cHL). We describe an 18-year-old female who collapsed after several weeks of weight loss, decreased appetite, and dyspnea. At autopsy, a bulky mass arising in the mediastinum and neck compressed the esophagus and trachea, surrounded the great vessels, obliterated the pericardial sac, and infiltrated the myocardium. The lungs were collapsed and large pleural effusions were present. The tumor burden, which weighed at least 2710 g in aggregate, was entirely above the diaphragm. Microscopic examination of the masses showed features typical for nodular sclerosis cHL including large bands of sclerosis, numerous Hodgkin/Reed-Sternberg (HRS) cells, and an eosinophil-rich mixed inflammatory cell infiltrate. Immunohistochemical stains showed the HRS cells to be uniformly positive for CD30 and CD15 and negative for CD3, CD20, CD45, and PAX5. This case exemplifies a rare sudden natural death due to previously undiagnosed cHL in a young patient.

Single coronary artery(SCA) anomaly is a rare anomaly where the right and left coronary arteries arise from a single ostium in the sinus valsalva and feed the whole heart. Although asymptomatic in most cases, it can cause angina, syncope, myocardial infarction and sudden cardiac death. It is essential to diagnose it especially in terms of the risk of encountering clinical pictures such as sudden death at a young age and its association with other congenital anomalies. In this report, we present a patient with a SCA anomaly. During an emergency conventional angiography, a right coronary artery(RCA) arising from the left main coronary artery(LMCA) originating from a single ostium was detected in the aorta.

Cardiac myxomas (CM) are the most common type of primary cardiac tumours in adults, which have an approximate incidence of up to 0.2% in some autopsy series. The purpose of this review is to summarise the literature on CM, including clinical presentation, differential diagnosis, work-up including imaging modalities and histopathology, management, and prognosis. CM are benign neoplasms developed from multipotent mesenchyme and usually present as an undifferentiated atrial mass. They are typically pedunculated and attached at the fossa ovalis, on the left side of the atrial septum. Potentially life-threatening, the presence of CM calls for prompt diagnosis and surgical resection. Infrequently asymptomatic, patients with CM exhibit various manifestations, ranging from influenza-like symptoms, heart failure and stroke, to sudden death. Although non-specific, a classic triad for CM involves constitutional, embolic, and obstructive or cardiac symptoms. CM may be purposefully characterised or incidentally diagnosed on an echocardiogram, CT scan or cardiac MRI, all of which can help to differentiate CM from other differentials. Echocardiogram is the first-line imaging technique; however, it is fallible, potentially resulting in uncommonly situated CM being overlooked. The diagnosis of CM can often be established based on clinical, imaging and histopathology features. Definitive diagnosis requires macroscopic and histopathological assessment, including positivity for endothelial cell markers such as CD31 and CD34. Their prognosis is excellent when treated with prompt surgical resection, with postsurgical survival rates analogous to overall survival in the age-matched general population.

Background Hepatocellular carcinoma (HCC) with inferior vena cava and right atrium thrombus is rare, accounting for approximately 1.4%-4.9% of cases. These patients are rarely reported, but the condition is being increasingly discovered with advances in imaging techniques, and their prognosis is extremely pessimistic with no current effective treatment. This condition is further associated with unexpected sudden death by cardiac arrest and acute large area pulmonary embolism. Case summary A 34-year-old man with advanced HCC with a hepatic vein thrombus extending into the right atrium had a long-term, disease-free survival following 5-mo sequential treatment combined with transcatheter arterial chemoembolization and curative liver resection. No severe adverse effects were encountered, such as massive hemorrhage or pulmonary embolism. The proper selection of operative method is an important factor. Conclusion HCC with a tumor thrombus extending into the right atrium has a significant impact on the survival of patients. Thrombectomy combined with adjuvant therapy may be beneficial for these patients.

Background Epileptic seizures can be difficult to distinguish from other etiologies that cause cerebral hypoxia, especially cardiac diseases. Long QT syndrome (LQTS), especially LQTS type 2 (LQT2), frequently masquerades as seizures because of the transient cerebral hypoxia caused by ventricular arrhythmia. The high rate of sudden death in LQTS highlights the importance of accurate and early diagnosis; correct diagnosis of LQTS also prevents inappropriate treatment with anti-epileptic drugs (AEDs). Case presentation We report a case of congenital LQT2 with potassium voltage-gated channel subfamily H member 2 gene (KCNH2) mutation misdiagnosed as refractory epilepsy and treated with various AEDs for 22 years. The possibility of cardiac arrhythmia was suspected after the patient presented to the emergency room and the electrocardiograph (ECG) monitor showed paroxysmal ventricular tachycardia during attacks. Atypical seizure like attacks with prodromal uncomfortable chest sensation and palpitation, triggered by auditory stimulation, and typical ventricular tachycardia monitored by ECG raised suspicion for LQT2, which was confirmed by exome sequencing and epileptic seizure was ruled out by 24-h EEG monitoring. Although the patient rejected implantation of an implantable cardioverter defibrillator, β blocker was given and the syncope only attacked 1–2 per year when there was an incentive during the 5 years follow up. Conclusions Our case illustrates how long LQTS can masquerade convincingly as epilepsy and can be treated wrongly with AEDs, putting the patient at high risk of sudden cardiac death. Careful ECG evaluation is recommend for both patients with first seizure and those with refractory epilepsy.