Billadello, Joseph J

Braverman, Alan C

Moon, Marc R

Saef, Joshua

English

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Washington University School of Medicine Digital Commons@Becker Open Access Publications 2019 Giant aortic root aneurysm in a patient with D-transposition of the great arteries and Marfan syndrome Joshua Saef Alan C. Braverman Marc R. Moon Joseph J. Billadello Follow this and additional works at: https://digitalcommons.wustl.edu/open_access_pubs https://doi.org/10.14503/THIJ-16-6110      229Texas Heart Institute Journal • June 2019, Vol. 46, No. 3© 2019 by the Texas Heart ® Institute, HoustonGiant Aortic Root Aneurysmin a Patient with D-Transposition of the Great Arteries and Marfan SyndromeA 33-year-old man presented with 3 months of worsening dyspnea on exer-tion. His medical history included dextro-type transposition of the great arteries (D-TGA) by means of a Senning atrial switch at 12 months of age. He had been monitored by a pediatric cardiologist until age 18 years but was then lost to follow-up. Of note, his father had Marfan syndrome. Cardiac magnetic resonance images showed an aneurysmal aortic root (diameter, 6.9 cm). The patient’s systemic right ventricle was markedly dilated and hypertrophic; the ejection fraction was 0.34 (Fig. 1). Mutation analysis revealed a likely pathogenic mutation in the FBN1 gene (p.Glu768Lys; c.2302 G>A in exon 20). Aortic root replacement with use of a 28-mm Dacron graft and a 25-mm biopros-thetic Carpentier-Edwards Perimount Magna Ease Aortic Heart Valve (Edwards Lifesciences Corporation) was discussed. The team’s consensus, however, was to re-evaluate right ventricular systolic function after a trial of medical therapy. Afterload re-duction and β-blocker therapy led to notable symptomatic improvement. Ten months after initial presentation, the patient underwent aortic valve and root replacement (Fig. 2). Microscopic examination of his aorta revealed cystic myxoid medial degeneration (Fig. 3).CommentTo our knowledge, comorbid D-TGA and Marfan syndrome have not been reported. The genetic patterns of D-TGA are incompletely understood, because familial clus-tering is rare.1 Marfan syndrome is caused by mutations in the FBN1 gene,2 which encodes fibrillin-1. Defects in fibrillin-1 can lead to progressive aortic dilation caused by cystic medial degeneration.3 Histopathologic studies of ascending aortas from neonates born with D-TGA have revealed elastic fiber fragmentation, increased collagen deposition, and loss of smooth-Images in Cardiovascular MedicineJoshua Saef, MDAlan C. Braverman, MD, FACCMarc R. Moon, MDJoseph J. Billadello,† MD, FACCSection Editor: Raymond F. Stainback, MDFrom: Cardiovascular Division, Department of Medicine (Drs. Billadello, Braverman, and Saef), and Cardiovascular Surgery Divi-sion, Department of Surgery (Dr. Moon), Washington Uni-versity School of Medicine, St. Louis, Missouri 63110† Dr. Billadello died on 8 August 2018.Address for reprints: Joshua Saef, MD, Robert and Suzanne Tomsich De-partment of Cardiovascular Medicine, Cleveland Clinic Foundation, 9500 Euclid Ave., Cleveland, OH 44195E-mail: saefj@ccf.orgFig. 1  Cardiac magnetic  resonance image shows a ventriculoarterial connection between the patient’s systemic right ventricle (RV) and aneurys-mal aorta (Ao). Note RV dilation and hypertrophy.230      Aortic Root Aneurysm in D-TGA and Marfan Syndrome June 2019, Vol. 46, No. 3muscle cells in the tunica media.4 These findings cor-relate with data showing that approximately 50% of D-TGA patients who underwent a Jatene arterial switch had aortic root dilation 10 years later.5 It therefore seems plausible that both D-TGA and Marfan syndrome con-tributed to the development of our patient’s giant aortic root aneurysm.References  1. Digilio MC, Casey B, Toscano A, Calabro R, Pacileo G, Mar-asini M, et al. Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation 2001;104(23):2809-14.  2. 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(7):476-85.  3. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003; 33 (3): 407-11.  4. Niwa K, Perloff JK, Bhuta SM, Laks H, Drinkwater DC, Child JS, Miner PD. Structural abnormalities of great arte-rial walls in congenital heart disease: light and electron micro-scopic analyses. Circulation 2001;103(3):393-400.  5. Schwartz ML, Gauvreau K, del Nido P, Mayer JE, Colan SD. Long-term predictors of aortic root dilation and aortic re-gurgitation after arterial switch operation. Circulation 2004; 110(11 Suppl 1):II128-32.Fig. 2  Intraoperative photograph shows the aneurysmal native aortic root with coronary buttons removed.  SVC = superior vena cavaFig. 3  Photomicrograph of the aorta shows cyst-like degenera-tion in the triangular basophilic region (arrow) and more typical myxoid degeneration in the basophilic layers in the media (H & E, orig. ×40).

Giant aortic root aneurysm in a patient with D-transposition of the great arteries and Marfan syndrome

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Giant aortic root aneurysm in a patient with D-transposition of the great arteries and Marfan syndrome

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