Abstract Shprintzen–Goldberg syndrome is a rare systemic connective tissue disorder characterized by craniosynostosis, skeletal abnormalities, infantile hypotonia, mild-to-moderate intellectual disability and cardiovascular anomalies. To our knowledge, this is the first report of a Shprintzen–Goldberg syndrome patient who developed a thoraco-abdominal aortic aneurysm. The aneurysm grew rapidly necessitating emergent thoraco-abdominal aortic replacement. The postoperative course was uneventful, and a careful lifetime follow-up was planned. Adult congenital surgery, Vascular surgery, Shprintzen–Goldberg syndrome INTRODUCTION Shprintzen–Goldberg syndrome (SGS) was reported in the early 1980s as craniosynostosis syndrome associated with marfanoid body habitus . Patients with SGS exhibit the same features as patients with Marfan syndrome (MFS) and Loeys–Dietz syndrome (LDS) because of the similar presentation of craniofacial, skeletal, cardiovascular and neuromuscular anomalies . Typically, patients with SGS have less severe cardiovascular abnormalities than patients with MFS and LDS. We report the case of a young patient with SGS who required thoraco-abdominal aortic replacement as a treatment for thoraco-abdominal aortic aneurysm (ThAAA) rupture. CASE The patient was an 18-year-old man who was diagnosed as having SGS in his infancy from his clinical and radiological features. A genetic screening test showed a heterozygous 3662 g > a transition in the fibrillin-1 gene but not in the transforming growth factor-beta (TGF-β) receptor 1 gene or TGF-β receptor 2 gene. The patient underwent surgical treatment for severe scoliosis twice, and at the age of 16 years, he underwent urgent aortic valve replacement because of severe aortic regurgitation leading to acute heart failure (Fig. 1A). At the age of 18 years, on regular follow-up, a computed tomography scan revealed for the first time a large Crawford Type III ThAAA (58 mm). Four months after the diagnosis of ThAAA, the patient was admitted to the emergency department because of severe persistent back pain. A computed tomography scan revealed further growth of the aneurysm to 80-mm diameter with pleural effusion, strongly indicating ThAAA rupture (Fig. 1B and C). The patient thus underwent an emergency surgery. After the left chest was incised spirally (Fig. 2A), moderate bloody pleural effusion and a very large aneurysm with haematoma were found. As the chest deformity was very severe, multiple ribs were cut to be able to proceed with the procedure. After encircling the proximal descending aorta and distal abdominal aorta, left heart bypass was established. The aneurysm was replaced with a 20-mm polyethylene terephthalate fibre (Dacron) straight graft from the descending aorta to the abdominal aorta just above the level of the celiac artery. All lumbar arteries were suture ligated, although the Adamkiewicz artery could not be identified preoperatively and intraoperatively. As the patient weighed only 28.2 kg and his abdominal vessels were very small to reattach, they were not reconstructed and a very small distal portion of the aneurysmal wall was left. Although a cerebrospinal fluid (CSF) drainage catheter could not be placed because of time constraint, the motor-evoked potentials measured throughout the procedure showed no abnormal findings. Following the successful surgical procedure, the postoperative course was uneventful without paraplegia (Fig. 2B). Histological analysis of the aneurysm indicated chronic aortic dissection with a very thick neointima and without the media (Fig. 2C). The fresh haematoma around the adventitia was consistent with the finding of aneurysmal rupture. Figure 1: View largeDownload slide A chest X-ray showing severe chest deformity with scoliosis (A). A preoperative chest X-ray (B) and a computed tomography scan (C). Figure 1: View largeDownload slide A chest X-ray showing severe chest deformity with scoliosis (A). A preoperative chest X-ray (B) and a computed tomography scan (C). Figure 2: View largeDownload slide An incision line from the left chest to the abdomen (A). A postoperative computed tomography scan (B). A histological analysis of the aneurysmal wall (Elastica van Gieson stain) (C). Black arrows indicate the second dissection finding. Figure 2: View largeDownload slide An incision line from the left chest to the abdomen (A). A postoperative computed tomography scan (B). A histological analysis of the aneurysmal wall (Elastica van Gieson stain) (C). Black arrows indicate the second dissection finding. DISCUSSION SGS has a significantly overlapped phenotype with MFS and LDS, and dysregulation of the TGF-β signalling pathway may be involved in its pathogenesis . Typically, the cardiovascular phenotype is less severe in SGS patients than in LDS patients [2, 3] who tend to have a higher risk of aortic disease at a younger age. A few cases of cardiovascular surgery for SGS patients have been reported to date [4, 5]. To our knowledge, this is the first report of an SGS patient who underwent emergency aortic surgery, which is relatively typical in MFS and LDS patients but not in SGS patients. There is currently no established management strategy for patients with SGS who undergo cardiac surgery. To evaluate the patient’s aortic lesions, careful examination of his computed tomography scan was planned every 6 months. Recently, other TGF-β-related genes have been found to be important causes of SGS and aortic disease . The patient may have these gene mutations, which we plan to confirm by genetic testing in the near future. CONCLUSION We report the successful repair of ThAAA rupture in an SGS patient. A careful lifetime follow-up is needed. Further genotype–phenotype correlation studies would be helpful to predict the prognosis. ACKNOWLEDGEMENTS The authors thank Edward Barroga (http://orcid.org/0000–0002-8920–2607) for editing the manuscript. Conflict of interest: none declared. REFFERENCES 1 Shprintzen RJ , Goldberg RB. A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias . J Craniofac Genet Dev Biol 1982 ; 2 : 65 – 74 . Google Scholar PubMed 2 Sood S , Eldadah ZA , Krause WL , Mclntosh I , Dietz HC. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome . Nat Genet 1996 ; 12 : 209 – 11 . Google Scholar CrossRef Search ADS PubMed 3 Doyle AJ , Doyle JJ , Bessling SL , Maragh S , Lindsay ME , Schepers D et al. . Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm . Nat Genet 2012 ; 44 : 1249 – 54 . Google Scholar CrossRef Search ADS PubMed 4 Fukunaga S , Akashi H , Tayama K , Kawano H , Kosuga K , Aoyagi S. Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report . J Heart Valve Dis 1997 ; 6 : 181 – 3 . Google Scholar PubMed 5 Elmistekawy E , Hudson CC , Williams A , Mesana T. Double-valve surgery in Shprintzen-Goldberg syndrome . Asian Cardiovasc Thorac Ann 2014 ; 22 : 842 – 5 . Google Scholar CrossRef Search ADS PubMed © The Author(s) 2018. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved. This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/about_us/legal/notices)
Interactive CardioVascular and Thoracic Surgery – Oxford University Press
Published: Jan 16, 2018
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