Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy
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Mucopolysaccharidoses (MPS) are disorders characterized by impaired glycosaminoglycan (GAG) catabolism as a consequence of a deficiency or the absence of lysosomal enzymes directly involved in their degradation. Multiple organ systems are involved in MPS, including the cardiovascular system. Recently, aortic root dilatation (ARD) has been described in these patients. Thus, we reviewed aortic root diameter measurements in 69 MPS patients from a single center from 2000 to 2016. Aortic root diameter z scores were calculated based on data published by Colan et al. according to the body surface area (BSA) determined using the Haycock formula. The overall incidence of ARD in MPS patients was 39.1%. Higher mean z scores were present in patients with MPS IVA and VI when compared to MPS I and II. Aortic root z scores were higher in older MPS IVA patients, which may suggest a progressive ARD change in this MPS type. No significant differences were found before and after enzyme replacement therapy (ERT) in 11 patients with available data (2 with MPS I; 4 with MPS II; 2 with MPS IVA, and 3 with MPS VI). This work provides further evidence that ARD is common in different types of MPS, being especially evident in MPS IVA, but with a significant occurrence also in MPS VI.
KeywordsAorta Mucopolysaccharidoses Enzyme replacement therapy Dissecting aneurysm
We thank the Isaac Foundation and Conselho Nacional de Desenvolvimento Científico (CNPq) for funding this study.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
For this type of study, formal informed consent is not required.
Research involving human and/or animal participants
This article does not contain any animal studies performed by any of the authors.
- 3.Yasuda E, Fushimi K, Suzuki Y, Shimizu K, Takami T, Zustin J, Patel P, Ruhnke K, Shimada T, Boyce B, Kokas T, Barone C, Theroux M, Mackenzie W, Nagel B, Ryerse JS, Orii KE, Iida H, Orii T, Tomatsu S (2013) Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder. Mol Genet Metab 109:301–311CrossRefGoogle Scholar
- 4.Lew V, Pena L, Edwards R, Wang RY (2017) Cardiovascular histopathology of a 11-year old with mucopolysaccharidosis VII demonstrates fibrosis, macrophage infiltration, and arterial luminal stenosis. In: Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V (eds) JIMD reports, vol 39. Springer, Berlin, pp 31–37Google Scholar
- 16.Weinsaft JW, Devereux RB, Preiss LR, Feher A, Roman MJ, Basson CT, Geevarghese A, Ravekes W, Dietz HC, Holmes K, Habashi J, Pyeritz RE, Bavaria J, Milewski K, LeMaire SA, Morris S, Milewicz DM, Prakash S, Maslen C, Song HK, Silberbach GM, Shohet RV, McDonnell N, Hendershot T, Eagle KA, Asch FM, Registry Investigators GENTAC (2016) Aortic dissection in patients with genetically mediated aneurysms: incidence and predictors in the GenTAC Registry. J Am Coll Cardiol 67:2744–2754CrossRefGoogle Scholar
- 17.Nienaber CA, Fattori R, Mehta RH, Richartz BM, Evangelista A, Petzsch M, Cooper JV, Januzzi JL, Ince H, Sechtem U, Bossone E, Fang J, Smith DE, Isselbacher EM, Pape LA, Eagle KA, International Registry of Acute Aortic Dissection (2004) Gender-related differences in acute aortic dissection. Circulation 109:3014–3021CrossRefGoogle Scholar
- 22.Endorsed by the Association for European Paediatric Cardiology (AEPC), Authors/Task Force Members, Baumgartner H, Bonhoeffer P, De Groot NMS, de Haan F, Deanfield JE, Galie N, Gatzoulis MA, Gohlke-Baerwolf C, Kaemmerer H, Kilner P, Meijboom F, Mulder BJM, Oechslin E, Oliver JM, Serraf A, Szatmari A, Thaulow E, Vouhe PR, Walma E, ESC Committee for Practice Guidelines (CPG), Vahanian A, Auricchio A, Bax J, Ceconi C, Dean V, Filippatos G, Funck-Brentano C, Hobbs R, Kearney P, McDonagh T, Popescu BA, Reiner Z, Sechtem U, Sirnes PA, Tendera M, Vardas P, Widimsky P, Document Reviewers, McDonagh T, Swan L, Andreotti F, Beghetti M, Borggrefe M, Bozio A, Brecker S, Budts W, Hess J, Hirsch R, Jondeau G, Kokkonen J, Kozelj M, Kucukoglu S, Laan M, Lionis C, Metreveli I, Moons P, Pieper PG, Pilossoff V, Popelova J, Price S, Roos-Hesselink J, Uva MS, Tornos P, Trindade PT, Ukkonen H, Walker H, Webb GD, Westby J (2010) ESC guidelines for the management of grown-up congenital heart disease (new version 2010): the task force on the management of grown-up congenital heart disease of the European Society of Cardiology (ESC). Eur Heart J 31:2915–2957Google Scholar
- 24.Osborn MJ, Webber BR, McElmurry RT, Rudser KD, DeFeo AP, Muradian M, Petryk A, Hallgrimsson B, Blazar BR, Tolar J, Braunlin EA (2017) Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology. J Inherit Metab Dis 40:281–289CrossRefGoogle Scholar