Cardiac Magnetic Resonance Imaging Macroscopic Fibro-Fatty Infiltration of the Myocardium in Pediatric Patients with Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

References

• Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation. 2010;121:1533–1541. doi:10.1161/CIRCULATIONAHA.108.840827.
   PubMed Web of Science ®Google Scholar
• Tabib A, Loire R, Chalabreysse L, Meyronnet D, Miras A, Malicier D, Thivolet F, Chevalier P, Bouvagnet P. Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or dysplasia. Circulation. 2003;108:3000–3005. doi:10.1161/01.CIR.0000108396.65446.21.
   PubMed Web of Science ®Google Scholar
• McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000;355:2119–2124. doi:10.1016/S0140-6736(00)02379-5.
   PubMed Web of Science ®Google Scholar
• Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000;9:2761–2766. doi:10.1093/hmg/9.18.2761.
   PubMed Web of Science ®Google Scholar
• Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004;36:1162–1164. doi:10.1038/ng1461.
   PubMed Web of Science ®Google Scholar
• Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113:1171–1179. doi:10.1161/CIRCULATIONAHA.105.583674.
   PubMed Web of Science ®Google Scholar
• Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, et al. Regulatory mutations in transforming growth factor-β3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005;65:366–373. doi:10.1016/j.cardiores.2004.10.005.
   PubMed Web of Science ®Google Scholar
• Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, et al. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the tmem43 gene. Am J Hum Genet. 2008;82:809–821. doi:10.1016/j.ajhg.2008.01.010.
   PubMed Web of Science ®Google Scholar
• Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, Grosgogeat Y. Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982;65:384–398. doi:10.1161/01.CIR.65.2.384.
   PubMed Web of Science ®Google Scholar
• McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J. 1994;71:215–218. doi:10.1136/hrt.71.3.215.
   PubMedGoogle Scholar
• Marcus FI, Zareba W, Calkins H, Towbin JA, Basso C, Bluemke DA, Estes NA, 3rd, Picard MH, Sanborn D, Thiene G, et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the North American Multidisciplinary Study. Heart Rhythm. 2009;6:984–992. doi:10.1016/j.hrthm.2009.03.013.
   PubMed Web of Science ®Google Scholar
• Bluemke DA, Krupinski EA, Ovitt T, Gear K, Unger E, Axel L, Boxt LM, Casolo G, Ferrari VA, Funaki B, et al. MR imaging of arrhythmogenic right ventricular cardiomyopathy: morphologic findings and interobserver reliability. Cardiology. 2003;99:153–162. doi:10.1159/000070672.
   PubMed Web of Science ®Google Scholar
• Tandri H, Saranathan M, Rodriguez ER, Martinez C, Bomma C, Nasir K, Rosen B, Lima JA, Calkins H, Bluemke DA. Noninvasive detection of myocardial fibrosis in arrhythmogenic right ventricular cardiomyopathy using delayed-enhancement magnetic resonance imaging. J Am Coll Cardiol. 2005;45:98–103. doi:10.1016/j.jacc.2004.09.053.
   PubMed Web of Science ®Google Scholar
• Tandri H, Macedo R, Calkins H, Marcus F, Cannom D, Scheinman M, Daubert J, Estes M, 3rd, Wilber D, Talajic M, et al. Multidisciplinary study of right ventricular dysplasia I. Role of magnetic resonance imaging in arrhythmogenic right ventricular dysplasia: insights from the north american arrhythmogenic right ventricular dysplasia (ARVD/C) study. Am Heart J. 2008;155:147–153., doi:10.1016/j.ahj.2007.08.011.
   PubMed Web of Science ®Google Scholar
• Midiri M, Finazzo M, Brancato M, Hoffmann E, Indovina G, Maria MD, Lagalla R. Arrhythmogenic right ventricular dysplasia: MR features. Eur Radiol. 1997;7:307–312. doi:10.1007/s003300050155.
   PubMed Web of Science ®Google Scholar
• Tandri H, Calkins H, Nasir K, Bomma C, Castillo E, Rutberg J, Tichnell C, Lima JA, Bluemke DA. Magnetic resonance imaging findings in patients meeting task force criteria for arrhythmogenic right ventricular dysplasia. J Cardiovasc Electrophysiol. 2003;14:476–482. doi:10.1046/j.1540-8167.2003.02560.x.
   PubMed Web of Science ®Google Scholar
• Castillo E, Tandri H, Rodriguez ER, Nasir K, Rutberg J, Calkins H, Lima JA, Bluemke DA. Arrhythmogenic right ventricular dysplasia: ex vivo and in vivo fat detection with black-blood MR imaging. Radiology. 2004;232:38–48. doi:10.1148/radiol.2321030688.
   PubMed Web of Science ®Google Scholar
• Fogel MA, Weinberg PM, Harris M, Rhodes L. Usefulness of magnetic resonance imaging for the diagnosis of right ventricular dysplasia in children. Am J Cardiol. 2006;97:1232–1237. doi:10.1016/j.amjcard.2005.11.045.
   PubMed Web of Science ®Google Scholar
• Yoo SJ, Grosse-Wortmann L, Hamilton RM. Magnetic resonance imaging assessment of arrhythmogenic right ventricular cardiomyopathy/dysplasia in children. Korean Circ J. 2010;40:357–367. doi:10.4070/kcj.2010.40.8.357.
   PubMedGoogle Scholar
• Deshpande SR, Herman HK, Quigley PC, Shinnick JK, Caltharp S, Cundiff CA, Shehata BM. Arrhythmogenic right ventricular disease/cardiomyopathy (ARVD/C): 16 pediatric cases and a proposal of modified pediatric criteria. Pediatr Cardiol. 2016;37:646–655. Aprdoi:10.1007/s00246-015-1327-x.
   PubMed Web of Science ®Google Scholar