Update on cardiomyopathies and sudden cardiac death
Stefania Rizzo1, Elisa Carturan1, Monica De Gaspari1
1Cardiovascular Pathology, Department of Cardio-Thoracic-Vascular Sciences & Public Health and Azienda Ospedaliera, University of Padua Medical School, Padua, Italy.
Insights
Sudden cardiac death (SCD) is a major cause of mortality. Autopsies are crucial for diagnosing SCD, especially non-ischemic causes in young individuals, guiding genetic screening for families.
Area of Science:
- Cardiovascular Pathology
- Forensic Medicine
- Genetics
Background:
- Sudden cardiac death (SCD) is a leading cause of mortality in Western countries.
- SCD can be the sole clinical manifestation of underlying cardiovascular disease.
- Autopsy is often the only diagnostic tool available for SCD.
Purpose of the Study:
- To emphasize the importance of standardized autopsy protocols for diagnosing SCD.
- To highlight the role of non-ischemic causes, including cardiomyopathies and ion channel diseases, in SCD, particularly in younger populations.
- To underscore the necessity of postmortem molecular testing and cascade genetic screening for heredo-familial conditions.
Main Methods:
- Adherence to Association for European Cardiovascular Pathology guidelines for autopsy.
- Standardized autopsy protocol.
- Blood sampling for potential postmortem molecular testing.
Main Results:
- Coronary artery disease is the most common cause of SCD.
- Non-ischemic causes, such as cardiomyopathies (arrhythmogenic, hypertrophic, inflammatory) and ion channel diseases, account for up to 50% of SCD cases in younger individuals.
- Pathologists play a critical role in diagnosing SCD and advising on genetic screening.
Conclusions:
- Standardized autopsy, including molecular testing, is essential for SCD diagnosis.
- Identifying non-ischemic causes is crucial, especially in young SCD cases.
- Genetic screening is vital for families affected by heredo-familial cardiovascular diseases.
Abstract:
Sudden cardiac death (SCD) remains a leading mode of death in western countries. Since SCD can be the first and last clinical presentation of the underlying disease, autopsy could be the only medical examination available for early diagnosis and it should be performed according to the guidelines of the Association for European Cardiovascular Pathology. Although the vast majority of SCD are due to coronary artery disease, non-ischemic causes of SCD do exist and are prevalent in young people with structural (i.e. arrhythmogenic, hypertrophic and inflammatory cardiomyopathy) and non-structural (ion channel diseases) cardiomyopathies, accounting for up to one half of cases. A standardized autopsy protocol, in combination with blood sampling to ensure feasibility of postmortem molecular testing if needed, is mandatory. The pathologist is called to provide the correct diagnosis and to advice the relatives on the need of a cascade clinical and genetic screening in the presence of a heredo-familial disease.
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