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Sudden death in Marfan syndrome
Basappa S Hugar1, Shivaramareddy Praveen, Sunil K Kainoor
1Department of Forensic Medicine, MS Ramaiah Medical College, Bangalore, 560054, India.
Marfan syndrome, a connective tissue disorder, can cause fatal thoracic aortic aneurysms. This case highlights a rare autopsy finding of sudden death from a ruptured dissecting aortic aneurysm in a young male patient.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Marfan syndrome is an autosomal dominant genetic disorder affecting connective tissue.
- Thoracic aortic aneurysms are a severe complication, potentially leading to sudden death.
- Ruptured aortic aneurysms are rarely encountered during autopsy due to timely clinical detection.
Observation:
- A case of sudden death in a 33-year-old male is presented.
- The patient experienced chest pain radiating to the back, breathlessness, and cyanosis.
- Death occurred en route to the hospital.
Findings:
- The cause of death was cardiac tamponade resulting from a ruptured dissecting aortic aneurysm.
- This highlights a fatal complication of Marfan syndrome.
- The autopsy revealed a dissecting aortic aneurysm as the cause of death.
Implications:
- This case underscores the critical importance of early diagnosis and management of Marfan syndrome to prevent fatal aortic complications.
- It emphasizes the need for vigilance in identifying risk factors for thoracic aortic aneurysms.
- The rarity of such autopsy findings highlights the effectiveness of current screening protocols for Marfan syndrome.
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