Mary N. Sheppard

MMP12 induces fibrogenic macrophage differentiation to drive granuloma-associated cardiac fibrosis

Mario Mazic, Clarice X. Lim, Piyal Saha, Thomas El-Jammal et autres

BACKGROUND: Cardiac sarcoidosis (CS) is a granulomatous inflammatory disease that frequently progresses to irreversible myocardial fibrosis and lethal conduction abnormalities. While mTORC1-dependent macrophage activation has been implicated in this process, exactly how granulomatous inflammation is mechanistically converted into fibrotic remodeling at the …

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Calcium release deficiency syndrome in unexplained sudden death: in vitro functional study of cardiac ryanodine receptor variants of uncertain significance

David C Johnson, Mark J Specterman, Shanshan Tian, Ruiwu Wang et autres

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Fatal Prosthetic Valve Endocarditis After Transcatheter Tricuspid Valve Replacement

Samuel Rustem Panday, Mehdi Eskandari, Alexandros Papachristidis, Rupert Simpson et autres

BACKGROUND: Transcatheter tricuspid valve replacement (TTVR) is an emerging therapy for severe tricuspid regurgitation with an evolving complication profile. Fatal prosthetic valve endocarditis (PVE) following orthotopic TTVR appears exceptionally rare, with detailed pathologic description through specialist cardiovascular autopsy remaining limited. CASE SUMMARY: …

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Dysregulated T Cell–Mediated Immunity Underlies Progression of Arrhythmogenic Right Ventricular Cardiomyopathy

Alexandros Protonotarios, Silvia Fanti, Barbara Szomolay, Imogen Heenan et autres

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Current state of knowledge on the epidemiology, aetiology, diagnosis, and management of heart involvement in eosinophilia. A Clinical Consensus Statement of the ESC Working Group on Myocardial & Pericardial Diseases

Petr Kuchynka, Antonio Brucato, Carsten Tschöpe, Matteo Cameli et autres

Heart involvement in eosinophilia represents a rare entity with substantial cardiac morbidity and mortality. This disorder is often overlooked and diagnosed in its advanced stages. In a subgroup of patients with eosinophilic heart disease, peripheral blood eosinophilia may not be present, and …

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Prospective use of genomics in the evaluation of sudden cardiac death: results from a national health service population pathway

Cian Wade, Richard Sandford, Frances Elmslie, Mary N. Sheppard et autres

BACKGROUND: Sudden cardiac death (SCD) is a major cause of premature and potentially avoidable mortality. Determining whether a SCD was caused by an inherited cardiac condition (ICC) enables identification and appropriate clinical management of at-risk relatives. We report findings from the NHS …

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A case of rapid and extensive cardiac myocyte microcalcification in a patient admitted to intensive care following out-of-hospital cardiac arrest

Gayath Bimal Jayarathna, Joseph Westaby, Mary N. Sheppard

Background: Early myocardial calcification is an uncommon histopathological finding and is usually associated with chronic myocardial injury. Rapid intramyocyte microcalcification following global ischemia is rarely described. Case presentation: A 42-year-old previously healthy male suffered an out-of-hospital cardiac arrest while cycling. Following prolonged …

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Atrial fibrillation and sudden cardiac death, a nested case-control study looking at cardiac pathology

Isaac Chung, Mary N. Sheppard, Joseph Westaby

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Genetic counselling implementation in dilated cardiomyopathy

Job A J Verdonschot, Karin Y van Spaendonck-Zwarts, Debby M.E.I. Hellebrekers, F W Asselbergs et autres

Genetic testing has become an integral part of the diagnostic workup of patients with dilated cardiomyopathy (DCM). While the initial goal of genetic testing was to identify family members at risk, recent advances have now extended their relevance to clinical decision-making. Our …

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The importance of diagnosing and treating cardiomyopathies

Mary N. Sheppard

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Quantitative Histological Insights Into Sudden Arrhythmic Death Syndrome: Findings From a Forensic Autopsy Cohort

Pernille Heimdal Holm, Thomas Hartvig Lindkær Jensen, Joseph Westaby, Mary N. Sheppard et autres

Sudden arrhythmic death syndrome (SADS) is a major cause of sudden cardiac death in young individuals, characterized by structurally normal hearts and negative toxicology. Although guidelines recommend family screening, phenotyping remains challenging. This study applied quantitative histology and deep-learning-based cell segmentation to …

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Thrombospondin-4 correlates with MRI measures of structural damage and pain sensitisation: a new biomarker in knee osteoarthritis

Franklyn A. Howe, Soraya Koushesh, Anna Blundell, Vivian Ejindu et autres

BACKGROUND: We hypothesised thrombospondin-4 (TSP-4), a molecule mediating pain sensitisation in peripheral nerve injury, is associated with pain sensitisation in OA. METHODS: A cross-sectional study of clinical, imaging and fluid biomarkers from knee OA participants was conducted. TSP-4 was assessed by immunohistochemistry …

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