LETHAL FUNGAL AORTITIS IN SURGICALLY CORRECTED SUPRAVALVULAR AORTIC STENOSIS IN A CHILD WITH WILLIAMS SYNDROME
Keywords:Williams-beuren syndrome, supra valvular aortic stenosis, infectious aortitis, valvular lesion
AbstractWilliams syndrome (WS), is a multisystem disorder occurring in 1 in 10,000 live births with supravalvular aortic stenosis (SVAS) being the most common cardiovascular manifestation. We present the case of a 2.5 years old male, known case of WS who presented with cognitive delay, history of right-sided stroke and left hemiplegia. Echocardiography revealed severe SVAS with a gradient of 105 mmHg. Diameter of the Sino tubular junction was 4 mm. Computerized tomography angiogram showed diffuse stenosis of ascending aorta with intraluminal thrombus. At surgery, the ascending aorta was augmented with autologous pericardial patches and end-to-end anastomosis of the proximal and distal aorta completed the reconstruction. The patient was discharged in a stable condition. He presented 6 weeks post-op with a pulsating pseudoaneurysm through the sternal wound. Emergency surgery with removal of fungal vegetation and reconstruction of the ascending aorta was performed. He expired due to fungal sepsis a week later.
Collins RT 2nd. Cardiovascular disease in Williams syndrome. Circulation 2013;127(21):2125–34.
Collins RT 2nd. Cardiovascular disease in Williams syndrome. Curr Opin Pediatr 2018;30(5):609–15.
Wu FY, Mondal A, Pedro J, Gauvreau K, Emani SM, Baird CW, et al. Long-term surgical prognosis of primary supravalvular aortic stenosis repair. Ann Thorac Surg 2019;108(4):1202–9.
Lopes RJ, Almeida J, Dias PJ, Pinho P, Maciel MJ. Infectious thoracic aortitis: a literature review. Clin Cardiol 2009;32(9):488–90.
Szaflik K, Kaźmierczak P, Moll JJ, Moll JA. Severe Congenital Obstruction of the Left Main Coronary Artery Coexisting With Supravalvular Aortic Stenosis in Williams Syndrome:A Dangerous Association. World J Pediatr Congenit Heart Surg 2016;7(2):216–9.
Jiao Y, Li G, Korneva A, Caulk AW, Qin L, Bersi MR, et al. Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency. Arterioscler Thromb Vasc Biol 2017;37(5):930–41.
Wint DP, Butman JA, Masdeu JC, Meyer-Lindenberg A, Mervis CB, Sarpal D, et al. Intracranial Arteries in Individuals with the Elastin Gene Hemideletion of Williams Syndrome. Am J Neuroradiol 2014;35(1):90–4.
Zamani H, Babazadeh K, Fattahi S, Mokhtari-Esbuie F. Williams-Beuren's Syndrome: A Case Report. Case Rep Med 2012;2012:585726.
Owens EA, Jie L, Reyes BAS, Van Bockstaele EJ, Osei-Owusu P. Elastin insufficiency causes hypertension, structural defects and abnormal remodelling of renal vascular signaling. Kidney Int 2017;92(5):1100–18.
Bakhtiary F, Amer M, Etz CD, Dähnert I, Wilhelm Mohr F, Bellinghausen W, et al. Mid-term outcome after surgical repair of congenital supravalvular aortic stenosis by extended aortoplasty. Interact Cardiovasc Thorac Surg 2013;17(4):688–90.
Mongé MC, Eltayeb OM, Costello JM, Johnson JT, Popescu AR, Rigsby CK, et al. Brom Aortoplasty for Supravalvular Aortic Stenosis. World J Pediatr Congenit Heart Surg 2018;9(2):139–46.
Deo SV, Burkhart HM, Schaff HV, Li Z, Stensrud PE, Olson TM, et al. Late outcomes for surgical repair of supravalvar aortic stenosis. Ann Thorac Surg 2012;94(3):854–9.
Soo A, Marley D, McGrath-Soo L, Herron B, Parissis H. Ascending aorta thrombus: a diagnostic and treatment dilemma. Asian Cardiovasc Thorac Ann 2014;22(6):731–3.
Kahlberg A, Melissano G, Tshomba Y, Leopardi M, Chiesa R. Strategies to treat thoracic aortitis and infected aortic grafts. J Cardiovasc Surg (Torino) 2015;56(2):269–80.
Wein M, Bartel T, Kabatnik M, Sadony V, Dirsch O, Erbel R. Rapid progression of bacterial aortitis to an ascending aortic mycotic aneurysm documented by transesophageal echocardiography. J Am Soc Echocardiogr 2001;14(6):646–9.
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