Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.

Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be clinically silent, and sudden unexpected death due to malignant arrhythmias may be the first manifestation. Thus, the HCM diagnosis could be performed at a clinical and judicial autopsy and offer useful findings on morphological features; moreover, it could integrate the knowledge on the genetic aspect of the disease. This review aims to systematically analyze the literature on the main post-mortem investigations and the related findings of HCM to reach a well-characterized and stringent diagnosis; the review was performed using PubMed and Scopus databases. The articles on the post-mortem evaluation of HCM by gross and microscopic evaluation, imaging, and genetic test were selected; a total of 36 studies were included. HCM was described with a wide range of gross findings, and there were cases without morphological alterations. Myocyte hypertrophy, disarray, fibrosis, and small vessel disease were the main histological findings. The post-mortem genetic tests allowed the diagnosis to be reached in cases without morpho-structural abnormalities; clinical and forensic pathologists have a pivotal role in HCM diagnosis; they contribute to a better definition of the disease and also provide data on the genotype-phenotype correlation, which is useful for clinical research.

Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular myocardium, leading to myocardial atrophy. Although the structural changes usually affect the right ventricle, the pathology may also manifest with either isolated left ventricular myocardium or biventricular involvement. As ARVC shows an autosomal dominant pattern of inheritance with variable penetrance, the clinical presentation of the disease is highly heterogeneous, with different degrees of severity and patterns of myocardial involvement even in patients of the same familiar group with the same gene mutation: the pathology spectrum ranges from the absence of symptoms to sudden cardiac death (SCD) sustained by ventricular arrhythmias, which may, in some cases, be the first manifestation of an otherwise silent pathology. An evidence-based systematic review of the literature was conducted to evaluate the state of the art of the diagnostic techniques for the correct post-mortem identification of ARVC. The research was performed using the electronic databases PubMed and Scopus. A methodological approach to reach a correct post-mortem diagnosis of ARVC was described, analyzing the main post-mortem peculiar macroscopic, microscopic and radiological alterations. In addition, the importance of performing post-mortem genetic tests has been underlined, which may lead to the correct identification and characterization of the disease, especially in those ARVC forms where anatomopathological investigation does not show evident morphostructural damage. Furthermore, the usefulness of genetic testing is not exclusively limited to the correct diagnosis of the pathology, but is essential for promoting targeted screening programs to the deceased's family members. Nowadays, the post-mortem diagnosis of ARVC performed by forensic pathologist remains very challenging: therefore, the identification of a clear methodological approach may lead to both a reduction in under-diagnoses and to the improvement of knowledge on the disease.

A case report of complex suicide in physician: attempt drugs poisoning and adhesive tape asphyxia.

Complex suicides are rare occurrences that can be categorized into planned (or primary) cases and unplanned (or secondary) cases. Additionally, individuals often select suicide methods based on their availability and accessibility. The body of a 58-year-old man was discovered deceased inside his medical office. He was found seated on the waiting room sofa, with his airways obstructed by several layers of adhesive tape wrapped around his head. An intravenous needle was observed in his left arm, and on the table in front of him, an empty 50 ml syringe, two empty vials of 10 ml potassium chloride, and an empty 10 mg vial of Valium (diazepam) were found. A roll of adhesive tape, similar to the one around his head, was also present. The autopsy, conducted 36 h after the body's discovery, revealed therapeutic concentrations of diazepam and its metabolite nordiazepam in the blood samples, while potassium chloride was not detected. Integrating forensic findings obtained from autopsy, histology, and other postmortem investigation, including toxicological analysis, can aid in defining suicidal behavior and preventing misinterpretation, particularly in differentiating diagnosis between homicide and suicide. It is crucial to consider circumstantial data and professional knowledge in such cases.

An Insight into Kounis Syndrome: Bridging Clinical Knowledge with Forensic Perspectives.

Kounis syndrome (KS) is an acute coronary syndrome triggered by allergic or hypersensitivity reactions. Incidence rates vary, with studies reporting 19.4 per 100.000 among all admissions and 3.4% among allergy patients. This review explores the expanding understanding of KS, encompassing various manifestations, and focusing on both clinical data and forensic findings useful in performing a diagnosis. The pathophysiology of this syndrome involves a complex interplay between allergic reactions and the cardiovascular system. Mast cell activation, histamine release, leukotrienes, cytokines, and platelet activation can contribute to coronary events. Three types of classification systems (allergic angina, allergic myocardial infarction, allergic stent thrombosis) aid in categorizing presentations. The diagnosis of KS relies on clinical presentation, laboratory findings, and imaging. Postmortem assessment of KS is based on the integration of circumstantial data, autopsy, and histological findings. Biochemical and immunohistochemical analyses also contribute to postmortem diagnosis. In conclusion, a combined, multidisciplinary approach should be used to ease the diagnostic process, which is crucial for forensic practitioners in confirming KS occurrence.

Postmortem Biochemistry and Immunohistochemistry in Anaphylactic Death Due to Hymenoptera Sting: A Forensic Case Report.

BACKGROUND: Postmortem assessment of anaphylactic death is a challenge for forensic pathologists. One of the most frequent elicitors of anaphylaxis is insect venom. Here, a case of anaphylactic death due to Hymenoptera stings is reported to highlight the contribution of postmortem biochemistry and immunohistochemistry in assessing the cause of death. CASE REPORT: A 59-year-old Caucasian man working on his farm was presumably stung by a bee and died. He had a history of previous sensitization to insect venom. The autopsy revealed no signs of insect puncture, mild edema of the larynx, and foamy edema in the bronchial tree and lungs. Routine histology showed endo-alveolar edema and hemorrhage, bronchospasm, and scattered bronchial obstruction due to mucus hyperproduction. Biochemical analysis was performed, and serum tryptase was equal to 189 µg/L, total IgE was 200 kU/L, and specific IgE dosage was positive for bee and yellow jacket species. Immunohistochemistry for tryptase detection was carried out, revealing mast cells and degranulated tryptase expression in the larynx, lungs, spleen, and heart. These findings led to the diagnosis of anaphylactic death due to Hymenoptera stings. CONCLUSIONS: The case highlights that the role of biochemistry and immunohistochemistry in the postmortem assessment of anaphylactic reactions should be stressed by forensic practitioners.