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Hellenic J Cardiol 2022 May 15. Epub 2022 May 15.

Onassis Cardiac Surgery Canter, Leof. Andrea Siggrou 356, Kallithea 176 74, Athens.

Hypertrophic cardiomyopathy (HCM) represents the most common genetically inherited cardiovascular disorder and a leading cause of heart failure and sudden cardiac death. Atrial fibrillation (AF) is the most common arrhythmia encountered in HCM patients, primarily due to the process of left atrium dilatation and remodeling. Its presence typically leads to progressive functional decline, increased frequency of heart failure hospitalizations and increased thromboembolic risk. Read More

JAMA Cardiol 2022 May 18. Epub 2022 May 18.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

Importance: Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death in young people. Although rare genetic variants are well-established contributors to HCM risk, common genetic variants have recently been implicated in disease pathogenesis.

Objective: To assess the contributions of rare and common genetic variation to risk of HCM in the general population. Read More

Sci Rep 2022 May 17;12(1):7996. Epub 2022 May 17.

Department of Pathology, Duke University Medical Center, 217AM Davison Bldg, 40 Duke Medicine Circle, Box 3712 DUHS, Durham, NC, 27710, USA.

Hypertrophic cardiomyopathy (HCM) is a genetic disease of the sarcomere that causes otherwise unexplained cardiac hypertrophy and is associated with sudden death. While previous studies showed the role of the epigenetic modifier Brg1 in mouse models of HCM, additional work is needed to identify its role in humans. We tested the hypothesis that BRG1 expression is increased in periods of cardiac remodeling during fetal growth and in development of HCM. Read More

Structure 2022 May 12. Epub 2022 May 12.

Department of Physiology and Cellular Biophysics, Columbia University, New York, NY, USA; Clyde & Helen Wu Center for Molecular Cardiology, Columbia University, New York, NY, USA. Electronic address:

The ryanodine receptor (RyR)/calcium release channel on the sarcoplasmic reticulum (SR) is required for excitation-contraction coupling in skeletal and cardiac muscle. Inherited mutations and stress-induced post-translational modifications result in an SR Ca leak that causes skeletal myopathies, heart failure, and exercise-induced sudden death. A class of therapeutics known as Rycals prevent the RyR-mediated leak, are effective in preventing disease progression and restoring function in animal models, and are in clinical trials for patients with muscle and heart disorders. Read More

JCI Insight 2022 May 17. Epub 2022 May 17.

Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, United States of America.

Background: Sudden cardiac death (SCD) remains a worldwide public health problem in need of better noninvasive predictive tools. Current guidelines for primary preventive SCD therapies such as implantable cardioverter defibrillators (ICDs) are based on left ventricular ejection fraction (LVEF), but these are imprecise with fewer than 5% of ICDs delivering life-saving therapy per year. Impaired cardiac metabolism and ATP depletion cause arrhythmias in experimental models, but a link between arrhythmias and cardiac energetic abnormalities in people has not been explored, nor the potential for metabolically predicting clinical SCD risk. Read More

Circ Genom Precis Med 2022 May 17:101161CIRCGEN121003530. Epub 2022 May 17.

Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (A.S., C.T., B.M., H.T., H.C., C.A.J.).

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a complex cardiomyopathy with autosomal dominant inheritance and age-related incomplete penetrance, characterized by a high risk of sudden cardiac death. Recent professional consensus guidelines recommend clinical cardiac lifelong serial screening for at-risk family members refined only by age, but family genotype might influence necessary screening. Although numerous studies report prevalence of disease and arrhythmia in family members and explore predictors of penetrance and arrhythmic risk, a systematic review consolidating this evidence is lacking. Read More

Commun Biol 2022 May 16;5(1):470. Epub 2022 May 16.

Department of Cardiology, Shanghai Children's Hospital, School of medicine, Shanghai Jiao Tong University, Shanghai, 200062, China.

Sudden cardiac death (SCD) caused by ventricular arrhythmias is the leading cause of mortality of cardiovascular disease. Mutation in TECRL, an endoplasmic reticulum protein, was first reported in catecholaminergic polymorphic ventricular tachycardia during which a patient succumbed to SCD. Using loss- and gain-of-function approaches, we investigated the role of TECRL in murine and human cardiomyocytes. Read More

J Comp Pathol 2022 Jun 26;194:34-38. Epub 2022 Apr 26.

Mouse and Animal Pathology Laboratory, Fondazione Unimi, Milano, Italy; Department of Veterinary Medicine and Animal Sciences, University of Milan, Lodi, Italy.

A 5-year-old female Springer Spaniel dog was submitted for necropsy after sudden death following vaccination against Leptospira spp. Gross examination revealed a diffuse dark red discolouration of skeletal musculature, severe diffuse congestion of all the abdominal organs and a contracted spleen. Severe dilation and reduction in wall width was seen in the right ventricle and histological examination revealed multifocal replacement of the right ventricular myocardium by a large amount of fibrofatty tissue. Read More

J Forensic Leg Med 2022 May 11;89:102369. Epub 2022 May 11.

Department of Pathology, Fattouma Bourguiba University Hospital, Monastir, 5000, Tunisia; Faculty of Medicine, University of Monastir, Monastir, 5000, Tunisia.

Cirrhosis cardiomyopathy is defined by cardiac dysfunction in cirrhotic patients. It is characterized by the reduced contractile response to stress and/or impaired diastolic relaxation associated with electrophysiological disturbances with unknown cardiac disease. Here we report a case of sudden death in a 44-year-old woman, with no personal and family medical history and in apparently good health before death. Read More

Cardiovasc Res 2022 May 16. Epub 2022 May 16.

Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW) and University Medical Center Utrecht, Utrecht, Netherlands.

Aims: Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disorder that is characterized by progressive loss of myocardium that is replaced by fibro-fatty cells, arrhythmias, and sudden cardiac death. While myocardial degeneration and fibro-fatty replacement occur in specific locations, the underlying molecular changes remain poorly characterized. Here we aim to delineate local changes in gene expression to identify new genes and pathways that are relevant for specific remodelling processes occurring during ACM. Read More

Europace 2022 May 16. Epub 2022 May 16.

Department of Electrophysiology, Heart Center Leipzig at University of Leipzig, Leipzig, Germany.

Front Physiol 2022 29;13:835761. Epub 2022 Apr 29.

UCLA Neurocardiology Research Program of Excellence, Los Angeles, CA, United States.

Neural control of the heart involves continuous modulation of cardiac mechanical and electrical activity to meet the organism's demand for blood flow. The closed-loop control scheme consists of interconnected neural networks with central and peripheral components working cooperatively with each other. These components have evolved to cooperate control of various aspects of cardiac function, which produce measurable "functional" outputs such as heart rate and blood pressure. Read More

JACC Case Rep 2022 May 4;4(9):507-511. Epub 2022 May 4.

Department of Cardiology, Inova Heart and Vascular Institute, Falls Church, Virginia, USA.

We report the case of a patient with anomalous right coronary artery (RCA) unmasked by acute perimyocarditis who continued to have ischemic symptoms despite total resolution of perimyocarditis and required surgical intervention of the anomalous RCA. This case was further complicated by ventricular arrhythmia after surgical repair. Collaboration among different cardiac specialists was essential in this case. Read More

Cureus 2022 Apr 12;14(4):e24084. Epub 2022 Apr 12.

Rheumatology, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Davie, USA.

Myocarditis is an inflammatory disease of the heart muscle, with manifestations that include myocardial infarction, arrhythmia, and even sudden death. The primary etiology of myocarditis is a viral infection, with studies demonstrating that infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can lead to myocarditis. This enzyme is involved in many body tissues, including the gastrointestinal system and the cardiac system. Read More

Front Cardiovasc Med 2022 29;9:882181. Epub 2022 Apr 29.

Cardiovascular Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.

Background: Coronary artery disease (CAD) is one of the leading causes of morbidity and mortality in patients with type 2 diabetes mellitus (T2DM), who are at a greater risk of acute myocardial infarction (AMI) and sudden cardiac death. Sodium-glucose cotransporter 2 (SGLT2) inhibitors have been shown to reduce cardiovascular events and mortality in T2DM patients with a risk of cardiovascular disease. This study aimed to investigate the effect of SGLT2 inhibitor use on the adverse cardiovascular and renal outcomes in T2DM patients with AMI. Read More

Intern Med 2022 May 14. Epub 2022 May 14.

Division of Cardiology, Iruma Heart Hospital, Japan.

Coronavirus disease 2019 (COVID-19) has become a pandemic, and vaccines remain the only effective tools available for ending it. However, their side effects, such as syncope, which mimics sudden cardiac death, are serious concerns. We herein report 6 cases of delayed vasovagal syncope and presyncope (VVR) caused by COVID-19 vaccination among 25,530 COVID-19 patients. Read More

J Clin Endocrinol Metab 2022 May 14. Epub 2022 May 14.

Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy.

Context: Involvement of the pituitary gland in SARS-CoV-2 infection has been clinically suggested by pituitary hormone deficiency in severe COVID-19 cases, by altered serum ACTH levels in hospitalized patients, and by cases of pituitary apoplexy. However, the direct viral infection of the gland has not been investigated.

Objectives: To evaluate whether the SARS-CoV-2 genome and antigens could be present in pituitary glands of lethal cases of COVID-19, and to assess possible changes in the expression of immune-related and pituitary-specific genes. Read More

Hum Mol Genet 2022 May 14. Epub 2022 May 14.

Division of Cardiology, Department of Internal Medicine, Heart Failure Research Center, Chang Gung Memorial Hospital, Keelung Branch, Keelung, Taiwan.

Myotonic dystrophy (DM) is caused by expansions of C(C)TG repeats in the non-coding regions of the DMPK and CNBP genes, and DM patients often suffer from sudden cardiac death due to lethal conduction block or arrhythmia. Specific molecular changes that underlie DM cardiac pathology have been linked to repeat-associated depletion of Muscleblind-like (MBNL) 1 and 2 proteins and upregulation of CUGBP, Elav-like family member 1 (CELF1). Hypothesis solely targeting MBNL1 or CELF1 pathways that could address all the consequences of repeat expansion in heart remained inconclusive, particularly when the direct cause of mortality and results of transcriptome analyses remained undetermined in Mbnl compound knockout (KO) mice with cardiac phenotypes. Read More

Annu Rev Genomics Hum Genet 2022 May 13. Epub 2022 May 13.

Leon H. Charney Division of Cardiology, Grossman School of Medicine, New York University, New York, NY, USA; email:

Brugada syndrome is a heritable channelopathy characterized by a peculiar electrocardiogram (ECG) pattern and increased risk of cardiac arrhythmias and sudden death. The arrhythmias originate because of an imbalance between the repolarizing and depolarizing currents that modulate the cardiac action potential. Even if an overt structural cardiomyopathy is not typical of Brugada syndrome, fibrosis and structural changes in the right ventricle contribute to a conduction slowing, which ultimately facilitates ventricular arrhythmias. Read More

Heart Lung Circ 2022 May 10. Epub 2022 May 10.

Department of Cardiology, Western Health, Melbourne, Vic, Australia.

Background: Takotsubo syndrome (TTS), an acute and usually reversible condition, is associated with both tachy- and bradyarrhythmias. Such arrhythmias can be life-threatening, e.g. Read More

Heart Rhythm 2022 May 10. Epub 2022 May 10.

Department of Cardiology, Copenhagen University Hospital - Rigshospitalet, Denmark; Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Medical Sciences, University of Copenhagen, Denmark. Electronic address:

Heart Rhythm 2022 May 10. Epub 2022 May 10.

Department of Medicine II, Kansai Medical University.

Background: The utility of late potentials on signal-averaged electrocardiography (SAECG) for risk stratification in patients with Brugada syndrome (BrS) remains controversial. Late potentials on conventional SAECG with Frank leads may be insufficiently sensitive to detect the site-specific late potentials in right precordial leads.

Objective: We evaluated the utility of site-specific late potentials using a novel unipolar Holter-SAECG system for risk stratification in patients with BrS. Read More

Leg Med (Tokyo) 2022 May 2;58:102084. Epub 2022 May 2.

Legal Medicine, Department of Medical, Surgical and Advanced Technologies "G.F. Ingrassia", University of Catania, 95123 Catania, Italy. Electronic address:

The purpose of this study is to show a very rare complication of acute cocaine poisoning, namely heart rupture. In the present case report, acute cocaine intoxication caused massive myocardial infarction, resulting in heart rupture and cardiac tamponade. A crime scene investigation found a dead body on the street in a drug dealing district. Read More

Sci Rep 2022 May 12;12(1):7910. Epub 2022 May 12.

Heart Failure Unit and Cardiology Department, Hospital Universitari Germans Trias i Pujol, Carretera de Canyet s/n, Badalona, 08916, Barcelona, Spain.

Primary ventricular fibrillation (PVF) is a life-threatening complication of ST-segment elevation myocardial infarction (STEMI). It is unclear what roles viral infection and/or systemic inflammation may play as underlying triggers of PVF, as a second hit in the context of acute ischaemia. Here we aimed to evaluate whether the circulating virome and inflammatory proteome were associated with PVF development in patients with STEMI. Read More

Radiat Oncol 2022 May 12;17(1):92. Epub 2022 May 12.

Department of Oncology and Palliative Medicine, Nordland Hospital, 8092, Bodø, Norway.

Background: Established prognostic models, such as the diagnosis-specific graded prognostic assessment, were not designed to specifically address very short survival. Therefore, a brain metastases-specific 30-day mortality model may be relevant. We hypothesized that in-depth evaluation of a carefully defined cohort with short survival, arbitrarily defined as a maximum of 3 months, may provide signals and insights, which facilitate the development of a 30-day mortality model. Read More

Heart 2022 05 12;108(11):816-818. Epub 2022 May 12.

Division of Cardiology, University of Washington, Seattle, Washington, USA

Future Cardiol 2022 May 13. Epub 2022 May 13.

Penn State Milton S Hershey Medical Center, Hershey, PA 17033, USA.

Only a few studies describe the pathophysiology and outcomes of dilated cardiomyopathy (DCM) in pregnancy, which the authors aim to review here. DCM causes enlargement of the ventricles and reduced systolic function. Fluid overload and raised cardiac output in pregnancy may contribute to cardiac complications that lead to cardiac remodeling and heart failure, a common cause of maternal mortality. Read More

JAMA Cardiol 2022 May 11. Epub 2022 May 11.

Department of Medicine, Division of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.

Importance: Patients with early-onset atrial fibrillation (AF) are enriched for rare variants in cardiomyopathy and arrhythmia genes. The clinical significance of these rare variants in patients with early-onset AF is unknown.

Objective: To assess the association between rare variants in cardiomyopathy and arrhythmia genes detected in patients with early-onset AF and time to death. Read More

Circ Genom Precis Med 2022 May 11:101161CIRCGEN121003695. Epub 2022 May 11.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL (T.A., A.L.G.).

Circ Genom Precis Med 2022 May 11:101161CIRCGEN121003491. Epub 2022 May 11.

Division of Pediatric Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC. (M.B.R., I.M.L., A.P.L.).

Background: Accurately determining variant pathogenicity is critical in the diagnosis of cardiac channelopathies; however, it remains unknown how variant pathogenicity status changes over time. Our aim is to use a comprehensive analysis of ClinVar to understand mutability of variant evaluation in channelopathy-associated genes to inform clinical decision-making around variant calling.

Methods: We identified 10 genes () strongly associated with cardiac channelopathies, as well as 3 comparison gene sets (disputed long QT syndrome, sudden unexpected death in epilepsy, and all ClinVar). Read More