Sudden Unexpected Death Associated with Arrhythmogenic Cardiomyopathy: Study of the Cardiac Conduction System

Ottaviani, Giulia; Alfonsi, Graziella; Ramos, Simone Gusmão; Buja, L. M.

doi:10.3390/diagnostics11081323

Cited by 5 publications

(5 citation statements)

References 49 publications

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“…The clinicopathological findings of the SUDA cases disclosed DCMP in one case (6.67%), myocarditis in two cases (13.33%), lymphoma metastases in two cases (13.33%), myocardial infarction in two cases (13.33%), and ARVC in five cases (33.33%). The findings of the conducting tissue of the ARVC cases, as hypoplasia in the conduction system due to fibro-fatty tissue infiltration, which now belong to the groups of SUDY and SUDA, were previously reported [12].…”

Section: Cardiac Conduction System Findingsmentioning

confidence: 67%

“…In this study, some anomalies of CCS lesions were detected mostly in fetuses and infants rather than adults, such as cartilaginous meta-hyperplasia of the CFB (Table 1) (Figure 4) and AVN duplicity. Some anomalies were not detected in the SIUD, SNUD, and SIDS groups, such as AVJ and SAN hypoplasia (Table 1) (Figure 6), which have been reported to be related to metastatic infiltration or ARVC involvement in the adult groups [12,41,42]. AVN tongue was not detected in fetuses and infants (Table 1), but it was reported to be present in 13% of the SIUD cases in a previous study [11].…”

Section: Anatomopathological Findings In the Cardiac Conduction Systemmentioning

confidence: 85%

“…We observed islands of conduction in the CFB system more frequently in SNUD (86.67%) and less frequently in SUDA (26.67%) (Table 1). In such cases, we observed islands of AVJ inside the CFB (Figure 2) as a form of persistent fetal dispersion, in part undergoing the process of resorptive degeneration (Figure 2B), which was the process of molding and reabsorption of the AVJ from the embryonic toward the adult shape [9][10][11][12]. We observed areas of fetal dispersions in the forms of AVJ undergoing the process of resorptive degeneration (Figure 3) in the vast majority (80%) of both SIUD and SNUD cases.…”

Section: Cardiac Conduction System Findingsmentioning

confidence: 99%

See 2 more Smart Citations

Autopsy for Medical Diagnostics: Finding the Cause of Sudden Unexpected Death through Investigation of the Cardiac Conduction System by Serial Sections

Ottaviani

Ramos

2023

Diagnostics

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Sudden unexpected death (SUD) is a fatal event that occurs in an apparently healthy subject in a way that such an abrupt outcome could have not been predicted. SUD—including sudden intrauterine unexplained death (SIUD), sudden neonatal unexpected death (SNUD), sudden infant death syndrome (SIDS), sudden unexpected death of the young (SUDY), and sudden unexpected death in the adult (SUDA)—occurs as the first manifestation of an unknown underlying disease or within a few hours of the presentation of a disease. SUD is a major unsolved, shocking form of death that occurs frequently and can happen at any time without warning. For each case of SUD, a review of clinical history data and performance of a complete autopsy, particularly focused on the study of the cardiac conduction system, were carried out according to the necropsy protocol devised by the Lino Rossi Research Center, Università degli Studi di Milano, Italy. Research cases collected and selected for this study were represented by 75 SUD victims that were subdivided into 15 SIUD, 15 SNUD, 15 SUDY, and 15 SUDA victims. After a routine autopsy and clinical history analysis, death remained unexplained, and hence a diagnosis of SUD was assigned to 75 subjects, which included 45 females (60%) and 30 (40%) males ranging in age from 27 gestational weeks to 76 years. Serial sections of the cardiac conduction system disclosed frequent congenital alterations of the cardiac conduction system in fetuses and infants. An age-related significant difference in distribution among the five age-related groups was detected for the following anomalies of the conduction system: central fibrous body (CFB) islands of conduction tissue, fetal dispersion, resorptive degeneration, Mahaim fiber, CFB cartilaginous meta-hyperplasia, His bundle septation, sino-atrial node (SAN) artery fibromuscular thickening, atrio-ventricular junction hypoplasia, intramural right bundle branch, and SAN hypoplasia. The results are useful for understanding the cause of death for all SUD cases that were unexpected and would have otherwise remained unexplained, so as to motivate medical examiners and pathologists to perform more in-depth studies.

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Section: Cardiac Conduction System Findingsmentioning

confidence: 67%

Section: Anatomopathological Findings In the Cardiac Conduction Systemmentioning

confidence: 85%

Section: Cardiac Conduction System Findingsmentioning

confidence: 99%

See 1 more Smart Citation

Autopsy for Medical Diagnostics: Finding the Cause of Sudden Unexpected Death through Investigation of the Cardiac Conduction System by Serial Sections

Ottaviani

Ramos

2023

Diagnostics

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“…Indeed, an upregulation of fibrosis accompanied by replacement of SAN pacemaker cells was found to increase beat-to-beat variability and may lead to arrhythmias and SCD [ 46 , 47 , 48 , 49 ]. Hence, according to current evidence, no certain significance can be given to the anomalies found at the CCS [ 50 ]. The other finding during the heart microscopic examination (fatty infiltration of the right ventricular wall) is of no pathologic significance, since the disposition of the adipose tissue follows the physiological pattern of the so-called “adipositas cordis” [ 51 ].…”

Section: Discussionmentioning

confidence: 99%

Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome

Grassi

Campuzano

Coll

et al. 2022

IJMS

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Sudden death is defined as the unexpected death of a healthy person that occurs within the first hour of the onset of symptoms or within 24 h of the victim being last seen alive. In some of these cases, rare deleterious variants of genes associated with inherited cardiac disorders can provide a highly probable explanation for the fatal event. We report the case of a 21-year-old obese woman who lost consciousness suddenly in a public place and was pronounced dead after hospital admission. Clinical autopsy showed an inconclusive gross examination, while in the histopathological analysis an eosinophilic inflammatory focus and interstitial fibrosis in the sino-atrial node were found. Molecular autopsy revealed an intronic variant in the KCNQ1 gene (c.683 + 5G > A), classified as likely pathogenic for long QT syndrome according to the guidelines provided by the American College of Medical Genetics and Genomics. Therefore, there were many anomalies that could have played a role in the causation of the sudden death, such as the extreme obesity, the cardiac anomalies and the KNCQ1 variant. This case depicts the difficult interpretation of rare cardiac structural abnormalities in subjects carrying rare variants responsible for inherited arrhythmic disorders and the challenge for the forensic pathologist to make causal inferences in the determinism of the unexpected decease.

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“…Precise interpretation of the ECG facilitates the topographic identification of the abnormal conduction pathway, pointing where to remove the tissue block and make histologic serial sectioning. 12…”

Section: Histologic Study Of the Conduction Systemmentioning

confidence: 99%

A review on role of autopsy in the diagnosis of sudden arrhythmic deaths

Mada

Parmar²,

Yadukul³

et al. 2022

IJFMTS

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Sudden death (SD) is described as “death within 24 hours from the earliest manifestation, without any proof of violence and with no pre-existing disease, where no cause of death can be identified clinically”. In about 5%–10% of cases of sudden cardiac death (SCD), no underlying heart disease can be found at autopsy. Mostly these are the arrhythmic SCD and have a morphologically normal heart. There is a scope for uncertainty among relatives and/or investigating authorities regarding the cause & manner of death specifically in unattended sudden cardiac death. The postmortem examination must include detailed history or clinically relevant information of the deceased, his/her family members, macroscopic, microscopic, toxicological & molecular examination.

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Sudden Unexpected Death Associated with Arrhythmogenic Cardiomyopathy: Study of the Cardiac Conduction System

Cited by 5 publications

References 49 publications

Autopsy for Medical Diagnostics: Finding the Cause of Sudden Unexpected Death through Investigation of the Cardiac Conduction System by Serial Sections

Autopsy for Medical Diagnostics: Finding the Cause of Sudden Unexpected Death through Investigation of the Cardiac Conduction System by Serial Sections

Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome

A review on role of autopsy in the diagnosis of sudden arrhythmic deaths

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