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882 results on '"Sheppard, Mary N."'

1. Genetically determined cardiomyopathies at autopsy: the pivotal role of the pathologist in establishing the diagnosis and guiding family screening

Author

Sheppard, Mary N., van der Wal, Allard C., Banner, Jytte, d’Amati, Giulia, De Gaspari, Monica, De Gouveia, Rosa, Di Gioia, Cira, Giordano, Carla, Larsen, Maiken Kudahl, Lynch, Matthew J., Lucena, Joaquin, Molina, Pilar, Parsons, Sarah, Suarez-Mier, M. Paz, Rizzo, Stefania, Suvarna, Simon Kim, Rijdt, Wouter P te, Thiene, Gaetano, Vink, Aryan, Westaby, Joseph, Michaud, Katarzyna, and Basso, Cristina

Published
2023
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7. Sudden cardiac death in the young: A consensus statement on recommended practices for cardiac examination by pathologists from the Society for Cardiovascular Pathology

Author

Kelly, Karen L., Lin, Peter T., Basso, Cristina, Bois, Melanie, Buja, L. Maximilian, Cohle, Stephen D., d'Amati, Giulia, Duncanson, Emily, Fallon, John T., Firchau, Dennis, Fishbein, Gregory, Giordano, Carla, Leduc, Charles, Litovsky, Silvio H., Mackey-Bojack, Shannon, Maleszewski, Joseph J., Michaud, Katarzyna, Padera, Robert F., Papadodima, Stavroula A., Parsons, Sarah, Radio, Stanley J., Rizzo, Stefania, Roe, Susan J., Romero, Maria, Sheppard, Mary N., Stone, James R., Tan, Carmela D., Thiene, Gaetano, van der Wal, Allard C., and Veinot, John P.

Published
2023
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36. 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families

Author

Stiles, Martin K., Wilde, Arthur A.M., Abrams, Dominic J., Ackerman, Michael J., Albert, Christine M., Behr, Elijah R., Chugh, Sumeet S., Cornel, Martina C., Gardner, Karen, Ingles, Jodie, James, Cynthia A., Jimmy Juang, Jyh-Ming, Kääb, Stefan, Kaufman, Elizabeth S., Krahn, Andrew D., Lubitz, Steven A., MacLeod, Heather, Morillo, Carlos A., Nademanee, Koonlawee, Probst, Vincent, Saarel, Elizabeth V., Sacilotto, Luciana, Semsarian, Christopher, Sheppard, Mary N., Shimizu, Wataru, Skinner, Jonathan R., Tfelt-Hansen, Jacob, and Wang, Dao Wu

Published
2021
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37. Ethnicity and sudden cardiac death in athletes: insights from a large United Kingdom registry

Author

Finocchiaro, Gherardo, Radaelli, Davide, D’Errico, Stefano, Bhatia, Raghav, Papadakis, Michael, Behr, Elijah R, Westaby, Joseph, Sharma, Sanjay, and Sheppard, Mary N

Abstract

A sudden death in an athlete is an uncommon but highly tragic event which appears almost paradoxical, as athletes epitomize the healthiest segment of society. Inherited and familiar cardiac conditions are the main causes of sudden death in young individuals and athletes. Studies on this matter have mainly focused on Caucasian athletes and the frequency or the causes of sudden death in athletes of other ethnicities is largely unknown. Our study focuses on this aspect and reveals that causes of sudden death may highly vary among athletes of different race. The circumstances of death differ significantly among various ethnicities, even looking at the same underlying cardiac condition.

Published
2024
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39. Insights into malignant mitral valve degenerative disease from a sudden cardiac death cohort highlighting significant measurement differences from normal.

Author

Westaby, Joseph, Bicalho, Luciana, Zullo, Emelia, and Sheppard, Mary N

Subjects
CARDIAC arrest, MITRAL valve, DEGENERATION (Pathology), MITRAL valve prolapse, LEFT ventricular hypertrophy, PAPILLARY muscles
Abstract

Aims: Mitral valve prolapse (MVP) is an accepted cause of sudden cardiac death (SCD) in most autopsy series. Diagnosis at autopsy relies upon subjective assessment with no established objective pathological criteria. This study set out to establish objective measurements to help pathologists dealing with SCD. Methods: We diagnosed 120 (1.5%) cases of MVP in 8108 cases of SCD. We measured the mitral annulus, anterior and posterior leaflets, rough zone and mitral annular disjunction (MAD) in 27 MVP cases and compared them to 54 age‐ and sex‐matched normal mitral valves. Results: Age of death was 39 ± 16 years, with 59 females and 61 males. History of mild MV disease was present in 19 (16%). Eleven (9%) died associated with exertion. Left ventricular hypertrophy was present in nine (15%) females and 10 (16%) males. Both MV leaflets showed thickening and ballooning in all individuals. MVP showed highly significantly increased annular circumference, elongation and thickening of both leaflets as well as increased MAD (all P < 0.001). Left ventricular fibrosis was present in 108 (90%), with interstitial fibrosis in the posterolateral wall and papillary muscle in 88 (81%) and coexisting replacement fibrosis in 40 (37%). Conclusion: This is the largest MVP associated with SCD series highlighting a young cohort with equal representation of males and females. There is involvement of both leaflets with significant annular dilatation, elongation and thickening of both leaflets with MAD. Left ventricular fibrosis explains arrhythmia. Our quantitative measurements should serve as a reference for pathologists assessing post‐mortem hearts for MVP. [ABSTRACT FROM AUTHOR]

Published
2024
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40. Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests.

Author

Del Duca, Fabio, Ghamlouch, Alessandro, Manetti, Alice Chiara, Napoletano, Gabriele, Sonnini, Elena, Treves, Biancamaria, De Matteis, Alessandra, La Russa, Raffaele, Sheppard, Mary N., Fineschi, Vittorio, and Maiese, Aniello

Subjects
CARDIAC arrest, GENETIC testing, FORENSIC medicine, CLINICAL medicine, SUDDEN onset of disease, GENETIC disorders, CLINICAL pathology, SURGICAL pathology
Abstract

Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be "silent" even during autopsy investigation. In these cases, it is important to exclude other aetiology and assist to ask for genetic investigations. Herein, the purpose of this review is to collect the most-implicated genes in SCD and generate a panel with indications for first line and second line investigations. A systematic review of genetic disorders that may cause SCD in the general population was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We subsequently listed the genes that may be tested in the case of sudden cardiac death when the autopsy results are negative or with no evidence of acquired cardiac conditions. To make genetic tests more specific and efficient, it is useful and demanded to corroborate autopsy findings with the molecular investigation as evident in the panel proposed. The genes for first line investigations are HCM, MYBPC3, MYH7, TNNT2, TNNI3, while in case of DCM, the most implicated genes are LMNA and TTN, and in second line for these CDM, ACTN2, TPM1, C1QPB could be investigated. In cases of ACM/ARVC, the molecular investigation includes DSP, DSG2, DSC2, RYR2, PKP2. The channelopathies are associated with the following genes: SCN5A, KCNQ1, KCNH2, KCNE1, RYR2. Our work underlines the importance of genetic tests in forensic medicine and clinical pathology; moreover, it could be helpful not only to assist the pathologists to reach a diagnosis, but also to prevent other cases of SCD in the family of the descendant and to standardise the type of analysis performed in similar cases worldwide. [ABSTRACT FROM AUTHOR]

Published
2024
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47. The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

Author

Lahrouchi, Najim, Raju, Hariharan, Lodder, Elisabeth M., Papatheodorou, Stathis, Miles, Chris, Ware, James S., Papadakis, Michael, Tadros, Rafik, Cole, Della, Skinner, Jonathan R., Crawford, Jackie, Love, Donald R., Pua, Chee J., Soh, Bee Y., Bhalshankar, Jaydutt D., Govind, Risha, Tfelt-Hansen, Jacob, Winkel, Bo G., van der Werf, Christian, Wijeyeratne, Yanushi D., Mellor, Greg, Till, Janice, Cohen, Marta, Tome-Esteban, Maria, Sharma, Sanjay, Wilde, Arthur A. M., Cook, Stuart A., Sheppard, Mary N., Bezzina, Connie R., and Behr, Elijah R.

Published
2020
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