参考文献/References:
[1]Palmucci S,Attinà G,Lanza ML,et al. Imaging findings of mucopolysaccharidoses: a pictorial review[J].Insights Imaging,2013,4(4):443-459.
[2]Martins AM,Dualibi AP,Norato D,et al. Guidelines for the management of mucopolysaccharidosis typeⅠ[J]. J Pediatr,2009,155:S32-46.
[3]Braunlin E,Wang R. Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs[J].Heart,2016,102(16):1257-1262.
[4]Kampmann C,Beck M,Morin I,et al.Prevalence and characterization of cardiac involvement in Hunter syndrome[J]. J Pediatr,2011,159(2):327-331.
[5]Scarpa M,Almássy Z,Beck M,et al. Mucopolysaccharidosis typeⅡ: European recommendations for the diagnosis and multidisciplinary management of a rare disease[J]. Orphanet J Rare Dis,2011,6:72.
[6]Rienks M,Papageorgiou AP,Frangogiannis NG,et al. Myocardial extracellular matrix: an ever-changing and diverse entity[J]. Circ Res,2014,114(5):872-888.
[7]Leal GN,de Paula AC,Leone C,et al.Echocardiographic study of paediatric patients with mucopolysaccharidosis[J]. Cardiol Young,2010,20(3):254-61.
[8] Boffi L,Russo P,Limongelli G.Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists[J]. Ital J Pediatr,2018,44(Suppl 2): 122.
[9]Schroeder L,Orchard P,Whitley CB,et al. Cardiac ultrasound findings in infants with severe (hurler phenotype) untreated mucopolysaccharidosis (MPS) typeⅠ[J]. JIMD reports,2013,10:87-94.
[10]Wilhelm CM,Truxal KV,McBride KL,et al. Natural history of echocardiographic abnormalities in mucopolysaccharidosis Ⅲ [J]. Mol Genet Metab,2018,124(2):131-134.
[11]Kampmann,C,Lampe,C,Whybra-Trümpler,C,et al. Mucopolysaccharidosis Ⅵ: cardiac involvement and the impact of enzyme replacement therapy[J]. J Inherit Metab Dis,2014,37(2):269-276.
[12] Braunlin E,Miettunen K,Lund T,et al. Hematopoietic cell transplantation for severe MPS Ⅰ in the first six months of life: The heart of the matter[J]. Mol Genet Metab ,2019,126(2):117-120.
[13]Lin SM,Lin HY,Chuang CK,et al. Cardiovascular abnormali es in Taiwanese patients with mucopolysaccharidosis[J]. Mol Genet Metab,2014,111:493-498.
[14]Borgia F,Pezzullo E,Schiano Lomoriello V,et al. Myocardial deformation in pediatric patients with mucopolysaccharidoses: a two-dimensional speckle tracking echocardiography study[J]. Echocardiography, 2017,34(2):240-249.
[15]Leal GN,de Paula AC,Leone C,et al. Echocardiographic study of paediatric patients with mucopolysaccharidosis[J]. Cardiol Young ,2010,20(3):254-261.
[16]Galderisi M,Lomoriello VS,Santoro A,et al. Differences of myocardial systolic deformation and correlates of diastolic function in competitive rowers and young hypertensives: a speckle-tracking echocardiography study[J]. J Am Soc Echocardiogr ,2010,23(11):1190-1198.
[17]Kobayashi T,Dhillon A,Popovic Z,et al. Differences in global and regional left ventricular myocardial mechanics in various morphologic subtypes of patients with obstructive hypertrophic cardiomyopathy referred for ventricular septal myotomy/myectomy[J].Am J Cardiol,2014,113(11):1879-1885.
[18]Hazari H,Belenkie I,Kryski A,et al. Comparison of cardiac magnetic resonance imaging and echocardiography in assessment of left ventricular hypertrophy in fabry disease[J].Can J Cardiol,2018,34(8):1041-1047.
[19]Patel V,O’Mahony C,Hughes D,et al. Clinical?and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease[J]. Heart,2015,101(12):961-966.
[20] Fratz S,Chung T,Greil GF,et al. Guidelines and protocols for cardiovascular magnetic resonance in children and adults with congenital heart disease: SCMR expert consensus group on congenital heart disease[J]. J Cardiovasc Magn Reson,2013,15:51.
[21] Muser D,Castro SA,Santangeli P,et al. Clinical applications of feature-tracking cardiac magnetic resonance imaging[J]. World J Cardiol,2018,10(11): 210-221.
[22]王杰.磁共振成像评价左室心肌应变的技术进展及临床应用[J].心血管病学进展,2018,39(1):53-57.
[23]Vijapurapu R,Nordin S,Baig S,et al. Global longitudinal strain,myocardial storage and hypertrophy in Fabry disease[J]. Heart ,2019,105(6):470-476.
[24]Messroghli DR,Moon JC,Ferreira VM,et al. Clinical recommendations for cardiovascular magnetic resonance mapping of T1,T2,T2* and extracellular volume: A consensus statement by the Society for Cardiovascular Magnetic Resonance (SCMR) endorsed by the European Association for Cardiovascular Imaging (EACVI) [J]. J Cardiovasc Magn Reson ,2017,19(1):75.
[25]Puntmann VO,Valbuena S,Hinojar R,et al. Society for Cardiovascular Magnetic Resonance (SCMR) expert consensus for CMR imaging endpoints in clinical research: part I - analytical validation and clinical qualification.SCMR Clinical Trial Writing Group[J]. J Cardiovasc Magn Reson,2018,20(1):67.
[26]Gniadek TJ,Singer N,Barker NJ,et al. Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome) [J].Cardiovasc Pathol,2015,24(5):322-326.
[27]Knott KD,Augusto JB,Nordin S,et al. Quantitative myocardial perfusion in fabry disease [J]. Circ Cardiovasc Imaging,2019 ,12(7):e008872.
[28]兰亭玉.Fabry病对心脏受累的表现及其检测与治疗[J].心血管病学进展,2013,34(4):485-488.
[29]Taylor AJ,Cerqueira M,Hodgson JM,et al. ACCF/SCCT/ ACR/AHA/ASE/ASNC/NASCI/SCAI/SCMR 2010 appropriate use criteria for cardiac computed tomography. A report of the American College of Cardiology Foundation Appropriate Use Criteria Task Force,the Society of Cardiovascular Computed Tomography,the American College of Radiology,the American Heart Association,the American Society of Echocardiography,the American Society of Nuclear Cardiology,the North American Society for Cardiovascular Imaging,the Society for Cardiovascular Angiography and Interventions,and the Society for Cardiovascular Magnetic Resonance[J]. J Am Coll Cardiol,2010,56:1864-1894.
[30]Aguilar F,Nesser HJ,Faletra F,et al. Imaging modalities in valvular heart disease[J]. Curr Cardiol Rep,2008,10:98-103.
[31]Rigante D,Segni G. Cardiac structural involvement in mucopolysaccharidoses[J]. Cardiology,2002,98:18-20.
[32]Khalid O,Vera MU,Gordts PL,et al. Immune-mediated inflammation may contribute to the pathogenesis of cardiovascular disease in mucopolysaccharidosis typeⅠ[J]. PLoS ONE,2016,11(3): p. e0150850.
[33]Perry R,Shah R,Saiedi M,et al. The role of cardiac imaging in the diagnosis and management of anderson-fabry disease[J]. JACC Cardiovasc Imaging,2019,12(7):1230-1242.