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Journal of Rare Cardiovascular Diseases
ISSN: 2299-3711 (Print)
e-ISSN: 2300-5505 (Online)
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Sudden Cardiac Death and Rare Cardiovascular Disorders: Forensic Autopsy Findings, Diagnostic Challenges, and Legal Implications: A Systematic Review
Dr Imran Sabri
,  
Dr Habeebuddin Shaji Mohammed
,  
Dr Naheed Kausar
,  
Dr Syed Gulfishan
,  
Dr Omer Musa
,  
Dr Shahina M. Khan
,  
Dr Mubeena Shaikh
,  
Dr Sujatha Tejavat
,  
Dr Asmaa Metwally Abdel Tawab
,  
Dr Naveed Gani
,  
Dr Zaid Waqar
,  
Dr Abdul Wahab Pathath
,  
Ayesha Pervez
,  
Nurjahan Begum
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Abstract
Background: Sudden cardiac death (SCD) in young individuals often results from rare cardiovascular disorders that present significant challenges in forensic pathology. Understanding the autopsy findings, diagnostic limitations, and legal implications is crucial for improving death investigation practices and family care. Objective: To systematically review the literature on forensic autopsy findings, diagnostic challenges, and legal implications associated with sudden cardiac death caused by rare cardiovascular disorders. Methods: A comprehensive systematic literature review was conducted following PRISMA 2020 guidelines. We searched SciSpace, PubMed, Google Scholar, and other databases from 2010 to 2025. Studies were included if they reported on sudden cardiac death cases involving rare cardiovascular disorders with forensic autopsy findings, diagnostic challenges, or legal implications. Data extraction focused on autopsy findings, diagnostic techniques, genetic testing results, and medicolegal aspects. Results: From 240 initially identified papers, 227 unique studies remained after deduplication. The literature revealed that rare cardiovascular disorders including arrhythmogenic cardiomyopathies, ion channelopathies, and inherited cardiomyopathies account for a significant proportion of SCD in young individuals. Molecular autopsy identifies pathogenic variants in approximately 20-25% of unexplained SCD cases. Key diagnostic challenges include negative autopsy findings, limited access to specialized testing, and inconsistent tissue handling protocols. Legal implications encompass family screening obligations, insurance considerations, and expert testimony requirements. Conclusions: Forensic investigation of SCD requires standardized protocols incorporating molecular autopsy, multidisciplinary expertise, and systematic family follow-up. Significant gaps exist in diagnostic standardization, genetic counseling implementation, and legal frameworks. Enhanced training, resource allocation, and policy development are needed to optimize forensic practice and family care in rare cardiovascular disorder-related SCD.
Keywords
sudden cardiac death, rare cardiovascular disorders, forensic pathology, molecular autopsy, genetic testing, legal implications
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Keywords
Classification of Rare Cardiovascular Diseases anticoagulation atrial fibrillation atrial septal defect cardiomyopathy computed tomography congenital heart disease echocardiography electrocardiogram electrocardiography heart failure implantable cardioverter‑defibrillator magnetic resonance imaging pregnancy pulmonary arterial hypertension pulmonary hypertension rare cardiovascular disease rare disease right heart catheterization right ventricular failure
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