Aortic dissection is a rare cause of death in young adults, which may be caused by acquired or congenital factors. We present the case of a 21-year-old man who died as a result of spontaneous aortic dissection and cardiac tamponade. At autopsy, signs of Marfan syndrome were evident both grossly and microscopically. Hodgkin lymphoma was also discovered, though was noncontributory to death. We review the causes of aortic dissection in young individuals, with a focus on the key differentiating features of predisposing inheritable connective tissue disorders. Given the implications for surviving family members, it is the obligation of the diligent forensic pathologist to be aware of these conditions, such that families may be alerted to the need for genetic counseling.
FikarC., KochS.Etiologic Factors of acute aortic dissection in children and young adults. Clin Pediatr (Phila).2000 Feb; 39(2): 71–80.
2.
HaganP.G., NienaberC.A., IsselbacherE.M.The International Registry of Acute Aortic Dissection (IRAD): new insights into an old disease. JAMA.2000 Feb 16; 283(7): 897–903.
CarlsonM., SilberbachM.Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. J Med Genet.2007 Dec; 44(12): 745–9.
5.
LinA.E., LippeB., RosenfeldR.G.Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome. Pediatrics.1998 Jul; 102(1): e12.
CalcagniG., GesualdoF., TamisierD.Arterial aneurysms and tuberous scleosis: a classic but little known association. Pediatr Radiol.2008 Jul; 38(7): 795–7.
JostC.J., GloviczkiP., EdwardsW.D.Aortic aneurysms in children and young adults with tuberous sclerosis: report of two cases and review of the literature. J Vasc Surg.2001 Mar; 33(3): 639–42.
10.
ShepherdC.W., GomezM.R., LieJ.T., CrowsonC.S.Causes of death in patients with tuberous sclerosis. Mayo Clin Proc.1991 Aug; 66(8): 792–6.
MaleszewskiJ.J., MillerD.V., LuJ.Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). Am J Surg Pathol.2009 Feb; 33(2): 194–201.
13.
DyhdaloK., FarverC.Pulmonary histologic changes in Marfan syndrome: a case series and literature review. Am J Clin Pathol.2011 Dec; 136(6): 857–63.
14.
RippergerT., TrogerH.D., SchmidtkeJ.The genetic message of a sudden, unexpected death due to thoracic aortic dissection. Forensic Sci Int.2009 May 30; 187(1-3): 1–5.
15.
PepinM., SchwarzeU., Superti-FurgaA., ByersP.H.Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med.2000 Mar 9; 342(10): 673–80.
16.
GermainD.P.Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis.2007 Jul 19; 2: 32.
17.
PepinM.G., ByersP.H.Ehlers-Danlos Syndrome Type IV. 1999 Sep 2 [Updated 2011 May 3]. In: PagonR.A., BirdT.D., DolanC.R., editors. GeneReviews™ [Internet].Seattle (WA): University of Washington, Seattle; 1993–. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1494/.
18.
LoeysB.L., SchwarzeU., HolmT.Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med.2006 Aug 24; 355(8): 788–98.
19.
ErkulaG., SponsellerP.D., PaulsenL.C.Musculoskeletal findings of Loeys-Dietz syndrome. J Bone Joint Surg Am.2010 Aug 4; 92(9): 1876–83.
20.
Van HemelrijkC., RenardM., LoeysB.The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol.2010 Nov; 25(6): 546–51.
21.
MilewiczD.M., RegaladoE.Thoracic aortic aneurysms and aortic dissections. 2003 Feb 13 [Updated 2012 Jan 12]. In: PagonR.A., BirdT.D., DolanC.R., editors. GeneReviews™ [Internet].Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1120/.
22.
GuoD.C., PannuH., Tran-FaduluV.Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet.2007 Dec; 39(12): 1488–93.
LoscalzoM.L., GohD.L., LoeysB.Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A.2007 Sep 1; 143A(17): 1960–7.
25.
PannuH., Tran-FaduluV., PapkeC.L.MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet.2007 Oct 15; 16(20): 2453–62.
26.
MarwahA., ShahS., SureshP.V., MaheshwariS.Arterial tortuosity syndrome: a rare entity. Ann Pediatr Cardiol.2008 Jan; 1(1): 62–4.
27.
ZaidiS.H., PeltekovaV., MeyerS.A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Clin Genet.2005 Feb; 67(2): 183–8.
28.
RitelliM., DreraB., VicchioM.Arterial tortuosity syndrome in two Italian paediatric patients. Orphanet J Rare Dis.2009 Sep 25; 4: 20.
29.
FranceschiniP., GualaA., LicataD.Arterial tortuosity syndrome. Am J Med Genet.2000 Mar 13; 91(2): 141–3.
30.
CorsoA., PagnuccoG., MorraE.[The diagnosis of non-Hodgkin's lymphoma in a patient with Marfan's syndrome]. Minerva Med.1993 Jul-Aug; 84(7-8): 417–9. Italian.
31.
GeethaN., AjithkumarT.V., LaliV.S.Hodgkin's lymphoma in a patient with marfan's syndrome. Indian J Med Paediatr Oncol.1999; 20(1): 20–1.
