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Published in: Forensic Science, Medicine and Pathology 3/2016

01-09-2016 | Commentary

Thoracic aortic dissection and heritability: forensic implications

Authors: Elizabeth N. Robertson, Brett D. Hambly, Richmond W. Jeremy

Published in: Forensic Science, Medicine and Pathology | Issue 3/2016

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Excerpt

Thoracic aortic dissection is a lethal condition, with approximately 20 % of patients dying before they reach hospital. The precursor to the majority of aortic dissections is underlying aortic dilatation and aneurysm, although some individuals sustain dissection in the absence of overt aortic dilatation [1]. …
Literature
1.
go back to reference Pape LA, Tsai TT, Isselbacher EM, Oh JK, O’Gara PT, Evangelista A, et al. Aortic diameter > or = 5.5 cm is not a good predictor of type A aortic dissection: observations from the International Registry of Acute Aortic Dissection (IRAD). Circulation. 2007;116:1120–7.CrossRefPubMed Pape LA, Tsai TT, Isselbacher EM, Oh JK, O’Gara PT, Evangelista A, et al. Aortic diameter > or = 5.5 cm is not a good predictor of type A aortic dissection: observations from the International Registry of Acute Aortic Dissection (IRAD). Circulation. 2007;116:1120–7.CrossRefPubMed
2.
go back to reference Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE Jr, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease. A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons,and Society for Vascular Medicine. J Am Coll Cardiol. 2010;55:e27–129.CrossRefPubMed Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE Jr, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease. A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons,and Society for Vascular Medicine. J Am Coll Cardiol. 2010;55:e27–129.CrossRefPubMed
3.
go back to reference Jeremy RW, Robertson E, Lu Y, Hambly BD. Perturbations of mechanotransduction and aneurysm formation in heritable aortopathies. Int J Cardiol. 2013;169:7–16.CrossRefPubMed Jeremy RW, Robertson E, Lu Y, Hambly BD. Perturbations of mechanotransduction and aneurysm formation in heritable aortopathies. Int J Cardiol. 2013;169:7–16.CrossRefPubMed
5.
go back to reference Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47:476–85.CrossRefPubMed Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47:476–85.CrossRefPubMed
6.
go back to reference Nistri S, Sorbo MD, Marin M, Palisi M, Scognamiglio R, Thiene G. Aortic root dilatation in young men with normally functioning bicuspid aortic valves. Heart. 1999;82:19–22.CrossRefPubMedPubMedCentral Nistri S, Sorbo MD, Marin M, Palisi M, Scognamiglio R, Thiene G. Aortic root dilatation in young men with normally functioning bicuspid aortic valves. Heart. 1999;82:19–22.CrossRefPubMedPubMedCentral
7.
go back to reference Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37:275–81.CrossRefPubMed Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37:275–81.CrossRefPubMed
8.
go back to reference Beighton P, De-paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet. 1998;77:31–7.CrossRefPubMed Beighton P, De-paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet. 1998;77:31–7.CrossRefPubMed
9.
go back to reference van der Linde D, van de Laar IM, Bertoli-Avella AM, Oldenburg RA, Bekkers JA, Mattace-Raso FU, et al. Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol. 2012;60:397–403.CrossRefPubMed van der Linde D, van de Laar IM, Bertoli-Avella AM, Oldenburg RA, Bekkers JA, Mattace-Raso FU, et al. Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol. 2012;60:397–403.CrossRefPubMed
10.
go back to reference Milewicz DM, Chen H, Park E, Petty EM, Zaghi H, Pai GS, et al. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol. 1998;82:474–9.CrossRefPubMed Milewicz DM, Chen H, Park E, Petty EM, Zaghi H, Pai GS, et al. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol. 1998;82:474–9.CrossRefPubMed
11.
go back to reference Padang R, Bannon PG, Jeremy R, Richmond DR, Semsarian C, Vallely M, et al. The genetic and molecular basis of bicuspid aortic valve associated thoracic aortopathy: a link to phenotype heterogeneity. Ann Cardiothorac Surg. 2013;2:83–91.PubMedPubMedCentral Padang R, Bannon PG, Jeremy R, Richmond DR, Semsarian C, Vallely M, et al. The genetic and molecular basis of bicuspid aortic valve associated thoracic aortopathy: a link to phenotype heterogeneity. Ann Cardiothorac Surg. 2013;2:83–91.PubMedPubMedCentral
Metadata
Title
Thoracic aortic dissection and heritability: forensic implications
Authors
Elizabeth N. Robertson
Brett D. Hambly
Richmond W. Jeremy
Publication date
01-09-2016
Publisher
Springer US
Published in
Forensic Science, Medicine and Pathology / Issue 3/2016
Print ISSN: 1547-769X
Electronic ISSN: 1556-2891
DOI
https://doi.org/10.1007/s12024-016-9788-7

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