ArticleInternational journal of legal medicine2009
Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture.
Article in International journal of legal medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments.International journal of legal medicine · 2024Pooled it
- A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.Forensic science, medicine, and pathology · 2024Article
- Article
- A novel frameshift mutation in Allan-Herndon-Dudley syndrome.International journal of legal medicine · 2022Article
- A novel splicing mutation in Marfan syndrome.International journal of legal medicine · 2020Article
- Sudden aortic death-proposal for a comprehensive diagnostic approach in forensic and in clinical pathology practice.International journal of legal medicine · 2017Article
- Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.International journal of legal medicine · 2017Article
- Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine.British journal of clinical pharmacology · 2011Review
- Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices.International journal of legal medicine · 2011Article
- [Aortic dissection - a not so rare disease].Medizinische Klinik (Munich, Germany : 1983) · 2010Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To investigate the sudden death of a 31-year-old man, a medicolegal autopsy was performed. Major findings were a dilated aortic root with a longitudinal rupture of the intima and dissection of aorta and right coronary artery and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities in combination with the histological finding of a pseudocystic medionecrosis of the aortic wall were noted. By sequencing of the FBN1 gene, a mutation (1622G>A) leading to the diagnosis of Marfan syndrome was found. Genetic counseling was recommended to the relatives who reported that the father of the deceased had died at the same age from aortic rupture. While fortunately the child of the deceased lacked this mutation, it was found in his younger sister. The results of the autopsy thus enabled early diagnosis and beginning of treatment in the sister and thus a considerable statistical increase in lifespan. With this report, we want to show that medicolegal autopsies can also have medical consequences for relatives. We argue that in all sudden and unexpected deaths in young persons up to 35 years an autopsy should be performed, not only to detect unnatural causes of death but also to identify heritable diseases and thus aid the relatives.
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