Biomaterial Database

Familial thoracic aortic aneurysms and dissections. 1998

J A Prahlow, and J J Barnard, and D M Milewicz

Southwestern Institute of Forensic Sciences, Dallas, TX, USA.

Rupture of thoracic aortic aneurysms and/or dissections is not rare, occurring in approximately 0.6% of all medicolegal autopsies. Most forensic pathologists are aware of the association between thoracic aortic aneurysms/dissections and trauma, atherosclerosis, inflammation and Marfan syndrome. In this report, we discuss a familial form of thoracic aortic dilatation and/or dissection that is distinct from Marfan syndrome. In addition, we review the topic of thoracic aortic aneurysm and dissection and encourage family notification by forensic pathologists when familial forms of aortic disease are suspected at autopsy.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008382	Marfan Syndrome	An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.	Marfan Like Connective Tissue Disorder,Marfan Syndrome Type 1,Marfan Syndrome Type 2,Marfan Syndrome, Type II,Marfan Syndrome, Type I,Marfan's Syndrome,Marfans Syndrome
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005554	Forensic Medicine	The application of medical knowledge to questions of law.	Legal Medicine,Medicine, Forensic,Medicine, Legal
D005799	Genes, Dominant	Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.	Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000059	Accidents	Unexpected and unintentional events, typically resulting in ACCIDENTAL INJURIES.	Accident
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D000784	Aortic Dissection	A tear in the inner layer of the AORTA leading to interstitial HEMORRHAGE, and splitting (dissecting) of the aortic TUNICA MEDIA layer. It typically begins with a tear in the TUNICA INTIMA layer.	Aneurysm, Dissecting,Aortic Dissecting Aneurysm,Dissecting Aneurysm,Dissecting Aneurysm Aorta,Aneurysm Aorta, Dissecting,Aneurysm, Aortic Dissecting,Aorta, Dissecting Aneurysm,Aortic Dissecting Aneurysms,Aortic Dissections,Dissecting Aneurysm Aortas,Dissecting Aneurysm, Aortic,Dissecting Aneurysms,Dissection, Aortic
D001019	Aortic Rupture	The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA.	Aortic Aneurysm, Ruptured,Ruptured Aortic Aneurysm,Aneurysm, Ruptured Aortic,Aneurysms, Ruptured Aortic,Aortic Aneurysms, Ruptured,Aortic Ruptures,Rupture, Aortic,Ruptured Aortic Aneurysms,Ruptures, Aortic