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Sudden death due to a novel nonsense mutation in Marfan syndrome.

Legal medicine (Tokyo, Japan) - 1 Nov 2021

Zhao Shuquan, Duan Yijie, Ma Longda, Shi Qing, Wang Kang, Zhou Yiwu

Abstract excerpt

BACKGROUND: Marfan syndrome is a hereditary connective tissue disease accompanied by autosomal dominant inheritance; that mainly arises from a mutation in the fibrillin-1 gene (FBN1). Aortic dissection and rupture are the common and lethal complications of MFS and may cause sudden unexpected death. METHOD: A man aged 34 was admitted to the hospital due to persistent pain in his abdomen 12 h post-drinking and...

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PMID: 34598112
DOI: 10.1016/j.legalmed.2021.101967

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