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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.

Journal of Forensic Sciences
|February 8, 2014
PubMed

Insights

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.
Keywords:
Marfan syndromedissecting aneurysmforensic pathologyforensic sciencesudden deaththoracic aorta

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