The concept of non-atherosclerotic coronary artery pathology in sudden cardiac death (SCD) has not been given the attention it deserves.
To determine the incidence of non-atherosclerotic coronary ...artery pathology in SCD and raise awareness among cardiologists and pathologists alike.
Retrospective non-case-controlled analysis. Setting Cardiac pathology centre at the National Heart and Lung Institute and Royal Brompton Hospital.
Between 1994 and 2008, the hearts of 1647 people undergoing SCD were referred for pathological assessment to ascertain the precise aetiology of SCD.
Fifty (3.0%) of the 1647 cases of SCD were associated with non-atherosclerotic coronary pathology (31 male subjects (62%) and 19 female subjects (38%, age range (8 weeks-71 years)). Twenty four of the 50 cases had anomalous coronary arteries (48%); eight cases had coronary artery dissection (16%); six cases had coronary artery vasculitis (12%); six cases had coronary artery spasm (12%); three cases had idiopathic arterial calcification of infancy (6%); two cases had fibromuscular dysplasia (4%) and one case had a benign tumour occluding the left coronary ostium (2%). Only 20 of the 50 patients (40%) were documented to have experienced cardiac symptoms such as syncope, chest pain on exertion or breathlessness before their SCD. Twelve of the patients (24%) died during or immediately after physical exertion.
Non-atherosclerotic coronary disease is associated with sudden death in all age groups, particularly younger, male patients. Cardiologists need to be aware of these entities and investigate any patient who has cardiac symptoms especially with exertion.
This international multidisciplinary document intends to provide clinicians with evidence-based practical patient-centered recommendations for evaluating patients and decedents with (aborted) sudden ...cardiac arrest and their families. The document includes a framework for the investigation of the family allowing steps to be taken, should an inherited condition be found, to minimize further events in affected relatives. Integral to the process is counseling of the patients and families, not only because of the emotionally charged subject, but because finding (or not finding) the cause of the arrest may influence management of family members. The formation of multidisciplinary teams is essential to provide a complete service to the patients and their families, and the varied expertise of the writing committee was formulated to reflect this need. The document sections were divided up and drafted by the writing committee members according to their expertise. The recommendations represent the consensus opinion of the entire writing committee, graded by Class of Recommendation and Level of Evidence. The recommendations were opened for public comment and reviewed by the relevant scientific and clinical document committees of the Asia Pacific Heart Rhythm Society (APHRS) and the Heart Rhythm Society (HRS); the document underwent external review and endorsement by the partner and collaborating societies. While the recommendations are for optimal care, it is recognized that not all resources will be available to all clinicians. Nevertheless, this document articulates the evaluation that the clinician should aspire to provide for patients with sudden cardiac arrest, decedents with sudden unexplained death, and their families.
Familial evaluation after a sudden death with negative autopsy (sudden arrhythmic death syndrome; SADS) may identify relatives at risk of fatal arrhythmias.
This study aimed to assess the impact of ...systematic ajmaline provocation testing using high right precordial leads (RPLs) on the diagnostic yield of Brugada syndrome (BrS) in a large cohort of SADS families.
Three hundred three SADS families (911 relatives) underwent evaluation with resting electrocardiogram using conventional and high RPLs, echocardiography, exercise, and 24-h electrocardiogram monitor. An ajmaline test with conventional and high RPLs was undertaken in 670 (74%) relatives without a familial diagnosis after initial evaluation. Further investigations were guided by clinical suspicion.
An inherited cardiac disease was diagnosed in 128 (42%) families and 201 (22%) relatives. BrS was the most prevalent diagnosis (n = 85, 28% of families; n = 140, 15% of relatives). Ajmaline testing was required to unmask the BrS in 97% of diagnosed individuals. The use of high RPLs showed a 16% incremental diagnostic yield of ajmaline testing by diagnosing BrS in an additional 49 families. There were no differences of the characteristics between individuals and families with a diagnostic pattern in the conventional and the high RPLs. On follow-up, a spontaneous type 1 Brugada pattern and/or clinically significant arrhythmic events developed in 17% (n = 25) of the concealed BrS cohort.
Systematic use of ajmaline testing with high RPLs increases substantially the yield of BrS in SADS families. Assessment should be performed in expert centers where patients are counseled appropriately for the potential implications of provocation testing.
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Hypertension is a major public health concern and poses a significant risk for sudden cardiac death (SCD). However, the characterisation of human tissues tends to be macroscopic, with little ...appreciation for the quantification of the pathological remodelling responsible for the advancement of the disease. While the components of hypertensive remodelling are well established, the timeline and comparative quantification of pathological changes in hypertension have not been shown before. Here, we sought to identify the phasing of cardiac remodelling with hypertension using post-mortem tissue from SCD patients with early and advanced hypertensive heart disease (HHD). In order to study and quantify the progression of phenotypic changes, human specimens were contrasted to a well-described angiotensin-II-mediated hypertensive mouse model. While cardiomyocyte hypertrophy is an early adaptive response in the mouse that stabilises in established hypertension and declines as the disease progresses, this finding did not translate to the human setting. In contrast, optimising fibrosis quantification methods and applying them to each setting identified perivascular fibrosis as the prevailing possible cause for overall disease progression. Indeed, assessing myocardial inflammation highlights CD45+ inflammatory cell infiltration that precedes fibrosis and is an early-phase event in response to elevated arterial pressures that may underscore perivascular remodelling. Along with aetiology insight, we highlight cross-species comparison for quantification of cardiac remodelling in human hypertension. As such, this platform could assist with the development of therapies specific to the disease phase rather than targeting global components of hypertension, such as blood pressure lowering.
Hypertrophic cardiomyopathy is a genetically determined heart muscle disease, and patients are at an increased risk for sudden cardiac death.
We report the case of a 39-year-old White man who was ...found dead at home unexpectedly. He had a cardiac transplant for congenital heart disease at the age of 12 and his condition was maintained with immunosuppression ever since with good cardiac function and right bundle branch block.
At autopsy, the heart was enlarged with a weight of 591 g and had fibrous adhesions of the pericardium with endothelialized sutures in the atria and great vessels in keeping with heart transplant. There was focal septal hypertrophy noted on short axis cut. There was diffuse thickening of the coronary arteries, but no significant stenosis was noted.
On microscopic examination of the heart, sections of right and left ventricle showed myocyte hypertrophy with extensive widespread myocyte disarray and replacement fibrosis. The histologic appearance was that of hypertrophic cardiomyopathy, which was responsible for his sudden unexpected death.
This postmortem diagnosis of hypertrophic cardiomyopathy in a transplanted heart has major implications for the donor family because of the inherited nature of the condition. Follow-up with the donor family is essential in this unique case.
This case highlights the importance of autopsy in transplant death cases. Hypertrophic cardiomyopathy in the donor heart most likely did not manifest phenotypically at the time of transplant in this case because the majority present in adolescence and early adulthood, rarely in childhood. This is first report of such a case.
Abstract Background Primary cardiac and pericardial tumours are rare with a prevalence of between 0.001% and 0.3%. Thus, general pathologists are not familiar with them. Modern advances in cardiac ...imaging have increased the number of patients identified with a primary cardiac tumour in its early stage and also improved prognosis. At the Royal Brompton Hospital, London, we did a retrospective study to investigate the pathological features of primary cardiac and pericardial tumours and compared our findings to other cardiac centres. Methods All pathologic records at the Royal Brompton Hospital between 1990 and 2008 were reviewed to identify patients with a confirmed diagnosis of primary cardiac tumours. A total of 94 patients with a histological diagnosis of primary cardiac and pericardial tumours were identified and formed the study population. Results The majority ( n =67, 71.3%) of cases were benign cardiac tumours. Myxoma was the most common histologic type accounting for 27 cases. Among cases with primary malignant tumours ( n =27, 28.7%), unclassified sarcoma ( n =11), leiomyosarcoma ( n =5), and lymphoma ( n =4) were the most common histologic types. Conclusion This study, primarily from an adult setting ( n =78, 83%) demonstrates a large spectrum of cardiac tumours seen in recent cardiologic practice. Myxoma is still the most common tumour but more fibroelastomas are being diagnosed due to increased imaging.
Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, ...postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation.
Post-mortem examination of the heart in young sudden cardiac death (SCD) is vital as the underlying aetiology is often an inherited cardiac disease with implications for surviving relatives. Our aim ...is to demonstrate the improvement in diagnostic quality offered by a specialist cardiac pathology service established to investigate SCD with fast-track reporting on hearts sent by pathologists in cases of SCD.
A tertiary centre prospective observational study was conducted. Detailed histopathological examination was performed in a tertiary centre specialized in the investigation of cardiac pathology in SCD. Hearts from 720 consecutive cases of SCD referred by coroners and pathologists from 2007 to 2009 were included. A comparison was drawn with diagnoses from referring pathologists. Most SCDs occurred in males (66%), with the median age being 32 years. The majority (57%) of deaths occurred at home. The main diagnoses were a morphologically normal heart (n = 321; 45%), cardiomyopathy (n = 207, 29%), and coronary artery pathology (n = 71; 10%). In 158 out of a sample of 200 consecutive cases, a cardiac examination was also performed by the referring pathologist with a disparity in diagnosis in 41% of the cases (κ = 0.48). Referring pathologists were more inclined to diagnose cardiomyopathy than normality with only 50 out of 80 (63%) normal hearts being described correctly.
Expert cardiac pathology improves the accuracy of coronial post-mortem diagnoses in young SCD. This is important as the majority of cases may be due to inherited cardiac diseases and the autopsy guides the appropriate cardiological evaluation of blood relatives for their risk of sudden death.
Approach to the cardiac autopsy Sheppard, Mary N
Journal of clinical pathology,
06/2012, Letnik:
65, Številka:
6
Journal Article
Recenzirano
This article deals with a detailed analysis of the dissection of the heart at autopsy. Since most of causes of death are cardiac it is essential that all pathologists are familiar with the approach ...to dissection of the heart, taking of blocks for histology and possible analysis of the conduction tissue.
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