TY - JOUR

T1 - Genetically determined cardiomyopathies at autopsy

T2 - the pivotal role of the pathologist in establishing the diagnosis and guiding family screening

AU - Sheppard, Mary N.

AU - van der Wal, Allard C.

AU - Banner, Jytte

AU - d’Amati, Giulia

AU - De Gaspari, Monica

AU - De Gouveia, Rosa

AU - Di Gioia, Cira

AU - Giordano, Carla

AU - Larsen, Maiken Kudahl

AU - Lynch, Matthew J.

AU - Lucena, Joaquin

AU - Molina, Pilar

AU - Parsons, Sarah

AU - Suarez-Mier, M. Paz

AU - Rizzo, Stefania

AU - Suvarna, Simon Kim

AU - Rijdt, Wouter P.te

AU - Thiene, Gaetano

AU - Vink, Aryan

AU - Westaby, Joseph

AU - Michaud, Katarzyna

AU - Basso, Cristina

AU - on behalf of the Association for European Cardiovascular Pathology (AECVP)

N1 - Funding Information: Open access funding provided by Università degli Studi di Padova within the CRUI-CARE Agreement. Open access funding provided by the University of Padua, Padua, Italy. Publisher Copyright: © 2023, The Author(s).

PY - 2023

Y1 - 2023

N2 - Cardiomyopathies (CMP) comprise a heterogenous group of diseases affecting primarily the myocardium, either genetic and/or acquired in origin. While many classification systems have been proposed in the clinical setting, there is no internationally agreed pathological consensus concerning the diagnostic approach to inherited CMP at autopsy. A document on autopsy diagnosis of CMP is needed because the complexity of the pathologic backgrounds requires proper insight and expertise. In cases presenting with cardiac hypertrophy and/or dilatation/scarring with normal coronary arteries, a suspicion of inherited CMP must be considered, and a histological examination is essential. Establishing the actual cause of the disease may require a number of tissue-based and/or fluid-based investigations, be it histological, ultrastructural, or molecular. A history of illicit drug use must be looked for. Sudden death is frequently the first manifestation of disease in case of CMP, especially in the young. Also, during routine clinical or forensic autopsies, a suspicion of CMP may arise based on clinical data or pathological findings at autopsy. It is thus a challenge to make a diagnosis of a CMP at autopsy. The pathology report should provide the relevant data and a cardiac diagnosis which can help the family in furthering investigations, including genetic testing in case of genetic forms of CMP. With the explosion in molecular testing and the concept of the molecular autopsy, the pathologist should use strict criteria in the diagnosis of CMP, and helpful for clinical geneticists and cardiologists who advise the family as to the possibility of a genetic disease.

AB - Cardiomyopathies (CMP) comprise a heterogenous group of diseases affecting primarily the myocardium, either genetic and/or acquired in origin. While many classification systems have been proposed in the clinical setting, there is no internationally agreed pathological consensus concerning the diagnostic approach to inherited CMP at autopsy. A document on autopsy diagnosis of CMP is needed because the complexity of the pathologic backgrounds requires proper insight and expertise. In cases presenting with cardiac hypertrophy and/or dilatation/scarring with normal coronary arteries, a suspicion of inherited CMP must be considered, and a histological examination is essential. Establishing the actual cause of the disease may require a number of tissue-based and/or fluid-based investigations, be it histological, ultrastructural, or molecular. A history of illicit drug use must be looked for. Sudden death is frequently the first manifestation of disease in case of CMP, especially in the young. Also, during routine clinical or forensic autopsies, a suspicion of CMP may arise based on clinical data or pathological findings at autopsy. It is thus a challenge to make a diagnosis of a CMP at autopsy. The pathology report should provide the relevant data and a cardiac diagnosis which can help the family in furthering investigations, including genetic testing in case of genetic forms of CMP. With the explosion in molecular testing and the concept of the molecular autopsy, the pathologist should use strict criteria in the diagnosis of CMP, and helpful for clinical geneticists and cardiologists who advise the family as to the possibility of a genetic disease.

KW - Autopsy

KW - Cardiomyopathies

KW - Genetic

KW - Sudden cardiac death

U2 - 10.1007/s00428-023-03523-8

DO - 10.1007/s00428-023-03523-8

M3 - Review

C2 - 36897369

AN - SCOPUS:85149783011

VL - 482

SP - 653

EP - 669

JO - Virchows Archiv

JF - Virchows Archiv

SN - 0945-6317

ER -