Sudden death in young South European population: a cross-sectional study of postmortem cases.

To describe the annual incidence and the leading causes of sudden non-cardiac and cardiac death (SCD) in children and young adult Portuguese population. We retrospectively reviewed autopsy of sudden unexpected deaths reports from the Portuguese National Institute of Legal Medicine and Forensic Sciences' database, between 2012 and 2016, for the central region of Portugal, Azores and Madeira (ages 1-40: 26% of the total population). During a 5-year period, 159 SD were identified, corresponding to an annual incidence of 2,4 (95%confidence interval, 1,5-3,6) per 100.000 people-years. Victims had a mean age of 32 ± 7 years-old, and 72,3% were male. There were 70,4% cardiac, 16,4% respiratory and 7,5% neurologic causes of SD. The most frequent cardiac anatomopathological diagnosis was atherosclerotic coronary artery disease (CAD) (33,0%). There were 15,2% victims with left ventricular hypertrophy, with a diagnosis of hypertrophic cardiomyopathy only possible in 2,7%. The prevalence of cardiac pathological findings of uncertain significance was 30,4%. In conclusion, the annual incidence of SD was low. Atherosclerotic CAD was diagnosed in 33,0% victims, suggesting the need to intensify primary prevention measures in the young. The high prevalence of pathological findings of uncertain significance emphasizes the importance of molecular autopsy and screening of first-degree relatives.

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

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.

Voices from the past: results of the ESP history of pathology working group survey on pathology museums.

While keeping their original purpose of training medical students, pathology museums hold great biological value, offering unique specimens for scientific research through modern radiological, pathological and biomolecular techniques. Moreover, the artefacts, models and drawings displayed in these museums are a precious cultural and artistic heritage. Preservation of the anatomical samples and maintenance of the facilities are neither easy nor inexpensive and call for patronage. The development of a European Pathology Museum Network would undoubtedly facilitate study, access and divulgation of antique pathology collections. Data from a survey conducted by the European Society of Pathology (ESP) History of Pathology Working Group have allowed creation of a comprehensive, multifaceted portrait of European university museums, reflecting their history, diversity, geography, institutional status, stakeholders, projects, professionals, audiences, policies and best practices.

Wax hearts: seeking the antiquity of cardiac pathology.

Wax models of normal and diseased organs were formerly essential medical teaching tools. The ceroplastic heart models from two 19th century pathology museums at the Universities of Florence (n = 8) and Coimbra (n = 10) were analysed. The Florentine collection comprised congenital malformations as well as infectious and inflammatory disorders. The Coimbra waxworks included congenital defects, cardiac hypertrophy and dilation, valvular pathology and cardiac adiposity. This study focuses on heart diseases and teaching resources in European university hospitals during the 19th century. It also highlights the importance of wax models in medical education both then and today, in an era of informatics and digital photography.

Autopsy in adults with congenital heart disease (ACHD).

The adult congenital heart diseases (ACHD) population is exceeding the pediatric congenital heart diseases (CHD) population and is progressively expanding each year, representing more than 90% of patients with CHD. Of these, about 75% have undergone surgical and/or percutaneous intervention for palliation or correction. Autopsy can be a very challenging procedure in ACHD patients. The approach and protocol to be used may vary depending on whether the pathologists are facing native disease without surgical or percutaneous interventions, but with various degrees of cardiac remodeling, or previously palliated or corrected CHD. Moreover, interventions for the same condition have evolved over the last decades, as has perioperative myocardial preservations and postoperative care, with different long-term sequelae depending on the era in which patients were operated on. Careful clinicopathological correlation is, thus, required to assist the pathologist in performing the autopsy and reaching a diagnosis regarding the cause of death. Due to the heterogeneity of the structural abnormalities, and the wide variety of surgical and interventional procedures, there are no standard methods for dissecting the heart at autopsy. In this paper, we describe the most common types of CHDs that a pathologist could encounter at autopsy, including the various types of surgical and percutaneous procedures and major pathological manifestations. We also propose a practical systematic approach to the autopsy of ACHD patients.

Sudden cardiac death and valvular pathology.

Sudden death due to valvular heart disease is reported to range from 1% to 5% in native valves and around 0.2%-0.9%/year in prosthesis. The nature of the diseases is varied, from heritable, congenital to acquired. It may affect both genders in multiple age groups. The authors show and comment examples of the major nosologic aetiologies underlying unexpected exitus letalis of valvular nature.

Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology.

Although sudden cardiac death (SCD) is one of the most important modes of death in Western countries, pathologists and public health physicians have not given this problem the attention it deserves. New methods of preventing potentially fatal arrhythmias have been developed and the accurate diagnosis of the causes of SCD is now of particular importance. Pathologists are responsible for determining the precise cause and mechanism of sudden death but there is still considerable variation in the way in which they approach this increasingly complex task. The Association for European Cardiovascular Pathology has developed these guidelines, which represent the minimum standard that is required in the routine autopsy practice for the adequate investigation of SCD. The present version is an update of our original article, published 10 years ago. This is necessary because of our increased understanding of the genetics of cardiovascular diseases, the availability of new diagnostic methods, and the experience we have gained from the routine use of the original guidelines. The updated guidelines include a detailed protocol for the examination of the heart and recommendations for the selection of histological blocks and appropriate material for toxicology, microbiology, biochemistry, and molecular investigation. Our recommendations apply to university medical centers, regionals hospitals, and all healthcare professionals practicing pathology and forensic medicine. We believe that their adoption throughout Europe will improve the standards of autopsy practice, allow meaningful comparisons between different communities and regions, and permit the identification of emerging patterns of diseases causing SCD. Finally, we recommend the development of regional multidisciplinary networks of cardiologists, geneticists, and pathologists. Their role will be to facilitate the identification of index cases with a genetic basis, to screen appropriate family members, and ensure that appropriate preventive strategies are implemented.

AECVP and SCVP 2009 recommendations for training in cardiovascular pathology.

Cardiovascular disease is of continuing importance as the result of a growing burden of risk factors in both developing and developed countries and the increasing number of elderly people worldwide. The recruitment and training of a new generation of Cardiovascular Pathologists is crucial to sustaining clinical excellence and to advancing our knowledge of cardiovascular disease. These pathologists will also have a key role in undergraduate and postgraduate training. In 2005 a task force of the Society for Cardiovascular Pathology published a document on the role of Cardiovascular Pathology as subspecialty of Anatomical Pathology (Pathological Anatomy). The 2005 report emphasized the need for a core curriculum and structured learning for residents and fellows in Cardiovascular Pathology. This new consensus statement on training is the result of collaboration between Cardiovascular Pathology Societies based in Europe and North America. It includes a detailed curriculum and describes three levels of expertise that can be developed.

Guidelines for autopsy investigation of sudden cardiac death.

Although sudden cardiac death is one of the most important mode of death in Western Countries, pathologists and public health physicians have not given this problem the attention it deserves. New methods of preventing potentially fatal arrhythmias have been developed, and the accurate diagnosis of the causes of sudden cardiac death is now of particular importance. Pathologists are responsible for determining the precise cause of sudden death but there is considerable variation in the way in which they approach this increasingly complex task. The Association for European Cardiovascular Pathology developed guidelines, which represent the minimum standard that is required in the routine autopsy practice for the adequate assessment of sudden cardiac death, including not only a protocol for heart examination and histological sampling, but also for toxicology and molecular investigation. Our recommendations apply to university medical centres, regional and district hospitals and all types of forensic medicine institutes. If a uniform method of investigation is adopted throughout the European Union, this will lead to improvements in standards of practice, allow meaningful comparisons between different communities and regions and, most importantly, permit future trends in the patterns of disease causing sudden death to be monitored.

A rare histiocytosis with severe cardiac involvement: Erdheim-Chester disease.

The term histiocytosis covers various disorders that lead to primary proliferation, infiltration and accumulation of cells of the mononuclear-phagocytic system within the affected tissues. Its pathophysiology is still unclear and the clinical course variable, which explains the lack of specific treatment and the need for a high level of suspicion to arrive at the diagnosis. The authors present the case of a patient with a complex cardiological clinical history, recently referred for surgical treatment of severe mitral insufficiency. Severe thickening of both atrial walls made it impossible to proceed with the intervention. After a complex etiological evaluation, a diagnosis of Erdheim-Chester disease was made. This is a rare, non-Langerhans cell histiocytosis and, to our knowledge, this represents the first case reported in Portugal. The authors also review the literature, particularly of the few cases with cardiac involvement.

Guidelines for autopsy investigation of sudden cardiac death.

Although sudden cardiac death is one of the most important mode of death in Western Countries, pathologists and public health physicians have not given this problem the attention it deserves. New methods of preventing potentially fatal arrhythmias have been developed, and the accurate diagnosis of the causes of sudden cardiac death is now of particular importance. Pathologists are responsible for determining the precise cause of sudden death but there is considerable variation in the way in which they approach this increasingly complex task. The Association for European Cardiovascular Pathology developed guidelines, which represent the minimum standard that is required in the routine autopsy practice for the adequate assessment of sudden cardiac death, including not only a protocol for heart examination and histological sampling, but also for toxicology and molecular investigation. Our recommendations apply to university medical centres, regional and district hospitals and all types of forensic medicine institutes. If a uniform method of investigation is adopted throughout the European Union, this will lead to improvements in standards of practice, allow meaningful comparisons between different communities and regions and, most importantly, permit future trends in the patterns of disease causing sudden death to be monitored.

Comparison of the healing mechanisms of myocardial lesions induced by dry radiofrequency and microwave epicardial ablation.

BACKGROUND: Histological assessment of the evolution of lesions induced on a pig's left atrium by microwave (MW) epicardial applications and comparison with dry radiofrequency (RF) lesions. METHODS: MW (40 W, 40 seconds) and dry RF (80 degrees C, 2 minutes) were epicardially applied on nine pigs' left atrium. Samples were procured following application (n = 2), at day 3 (n = 2), day 7 (n = 2), day 14 (n = 2), and at 1 month (n = 1). They were fixed in formalin, embedded in paraffin, sectioned (2 mu), stained with histochemical dyes, immunomarked, and histologically analyzed. RESULTS: Histological features of acute stage MW lesion are interstitial hemorrhage, adipose, and muscular tissues' coagulation necrosis, thrombosis of myocardial interstitium small vessels at damaged and optically undamaged areas, epicardial coronary branches, and endocardial parietal thrombosis. Day 3-lymphohistiocytic infiltration (lysosyme+) highlights lesion limits. Day 7-lymphohistiocytic infiltration increases, multi-nucleated giant cells appear surrounding/fagocyting necrotic tissue. Neovessels and scarce myofibroblasts appear. Lesion edges are now better defined. Day 14-myofibroblastic proliferation (actin++, vimentin+) creates "young" scar tissue, as in "healing by second intention." Lesions are deeper and wider than appeared at acute stage. One month-dense fibrous tissue scar appears. Endothelial cells covering endocardium are morphologically intact. RF lesions are histologically identical to MW's, although no vessel thrombosis was identified at acute optically undamaged areas and cytomorphologic elements emerge at later stages in the healing process. CONCLUSIONS: (1) Microwave scars are deeper and wider than the lesions observed at the acute stage. (2) Evolution of microwave lesions is faster and induces broader scars than dry radiofrequency. (3) Scar formation (both energies) is "healing by second intention." (4) Endocardial thrombosis may occur despite morphologically intact endothelium.

Cardiac MICE--tumor or thrombus?

INTRODUCTION: Mesothelial/monocytic incidental cardiac excrescence (cardiac MICE) is a rare intracardiac lesion, which can cause severe disease and lead to misdiagnosis. MATERIAL AND METHODS: A 66-year-old woman with floppy mitral valve and coronary atherosclerosis underwent diagnostic coronary angiography, mitral valve surgery and aortocoronary bypass. During surgery, a thrombus was detected inside the left atrium and sent for pathology analysis. The sample was routinely processed, stained with histochemical dyes and immunomarked for epithelial (keratin) and mesenchymal cells (vimentin), histiocytes (lysozyme) and endothelial cells (Factor VIII). RESULTS: Histologically, the lesion contained mesothelial cells (keratin/vimentin coexpression), histiocytes (lysozyme/vimentin positive) and fibrin, leading to a diagnosis of MICE. DISCUSSION AND CONCLUSIONS: Cardiac MICE is a benign cardiac tumor-like lesion. It may be misdiagnosed as a thrombus or neoplasia, either primary or metastatic. Through embolization, it may cause myocardial or multiorgan infarctions, in some cases fatal. Developments in cardiothoracic surgery and interventional cardiology may increase its incidence; hence the importance of recognizing this entity.

Small aortic root as a cause of sudden death in a young adult: a controversial topic revisited.

BACKGROUND: Sudden cardiac death over the age of 35 years is mostly due to coronary atherosclerosis, whereas under the age of 35 years, a variety of mainly congenital malformations prevail. However, hypoplasia of the aortic root in adults, first introduced by Laurie in 1968 as a cause of sudden cardiac death in adults, is never included. CASE REPORT: We present a case of a 29-year-old female who suddenly and unexpectedly collapsed during recreational bicycling. Ventricular fibrillation was recorded, but resuscitation attempts failed, and the patient was declared dead about 1 h after the event. Autopsy revealed cardiac hypertrophy with extensive scarring and a small aortic root (calculated inlet/outlet diameters=14.9/14.3 mm), without obstructive coronary artery disease or any other plausible cause for sudden cardiac death. CONCLUSIONS: The observations strongly suggest that small aortic root (less than 2 cm in diameter) provided the background for cardiac hypertrophy and, eventually, myocardial ischemia and ventricular fibrillation. Pathologists should be aware of this possibility while evaluating cases of sudden cardiac death without an obvious pathologic substrate.