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148. Martinez-Naharro A, Abdel-Gadir A, Treibel TA, Zumbo G, Knight DS, Rosmini S, et al. CMR-verified regression of cardiac AL amyloid after chemotherapy. JACC Cardiovasc Imaging 2018;11:152–154. https://doi.org/10.1016/j.jcmg.2017.02.012 149. Fontana M, Martinez-Naharro A, Chacko L, Rowczenio D, Gilbertson JA, Whelan CJ, et al. Reduction in CMR derived extracellular volume with patisiran indicates cardiac amyloid regression. JACC Cardiovasc Imaging 2021;14:189–199. https://doi.org/10. 1016/j.jcmg.2020.07.043 150. Martinez-Naharro A, Kotecha T, Norrington K, Boldrini M, Rezk T, Quarta C, et al. Native T1 and extracellular volume in transthyretin amyloidosis. JACC Cardiovasc Imaging 2019;12:810–819. https://doi.org/10.1016/j.jcmg.2018.02.006 151. Puntmann VO, Isted A, Hinojar R, Foote L, Carr-White G, Nagel E. T1 and T2 mapping in recognition of early cardiac involvement in systemic sarcoidosis. Radiology 2017;285: 63–72. https://doi.org/10.1148/radiol.2017162732 152. Pennell DJ, Porter JB, Cappellini MD, Chan LL, El-Beshlawy A, Aydinok Y, et al. Deferasirox for up to 3 years leads to continued improvement of myocardial T2* in patients with beta-thalassemia major. Haematologica 2012;97:842–848. https://doi. org/10.3324/haematol.2011.049957 153. Dalal D, Tandri H, Judge DP, Amat N, Macedo R, Jain R, et al. Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics–magnetic resonance imaging correlation study. J Am Coll Cardiol 2009;53:1289–1299. https:// doi.org/10.1016/j.jacc.2008.12.045 154. Stokke MK, Castrini AI, Aneq MA, Jensen HK, Madsen T, Hansen J, et al. Absence of ECG Task Force Criteria does not rule out structural changes in genotype positive ARVC patients. Int J Cardiol 2020;317:152–158. https://doi.org/10.1016/j.ijcard.2020. 05.095 155. Moon JC, Sachdev B, Elkington AG, McKenna WJ, Mehta A, Pennell DJ, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson–Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003;24:2151–2155. https://doi.org/10.1016/j.ehj.2003.09.017 156. Huurman R, van der Velde N, Schinkel AFL, Hassing HC, Budde RPJ, van Slegtenhorst MA, et al. Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance. Eur Heart J Cardiovasc Imaging 2022;23: 1144–1154. https://doi.org/10.1093/ehjci/jeac099 157. Valente AM, Lakdawala NK, Powell AJ, Evans SP, Cirino AL, Orav EJ, et al. Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. Circ Cardiovasc Genet 2013;6:230–237. https://doi.org/10.1161/CIRCGENETICS.113. 000037 158. Germans T, Russel IK, Gotte MJ, Spreeuwenberg MD, Doevendans PA, Pinto YM, et al. How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance. J Cardiovasc Magn Reson 2010;12:13. https://doi.org/10.1186/1532-429X-12-13 159. Germans T, Wilde AA, Dijkmans PA, Chai W, Kamp O, Pinto YM, et al. Structural abnormalities of the inferoseptal left ventricular wall detected by cardiac magnetic resonance imaging in carriers of hypertrophic cardiomyopathy mutations. J Am Coll Cardiol 2006;48:2518–2523. https://doi.org/10.1016/j.jacc.2006.08.036 160. Aziz W, Claridge S, Ntalas I, Gould J, de Vecchi A, Razeghi O, et al. Emerging role of cardiac computed tomography in heart failure. ESC Heart Fail 2019;6:909–920. https://doi.org/10.1002/ehf2.12479 161. Galand V, Ghoshhajra B, Szymonifka J, Das S, Leclercq C, Martins RP, et al. Utility of computed tomography to predict ventricular arrhythmias in patients with nonischemic cardiomyopathy receiving cardiac resynchronization therapy. Am J Cardiol 2020;125: 607–612. https://doi.org/10.1016/j.amjcard.2019.11.003 162. Palmisano A, Vignale D, Peretto G, Busnardo E, Calcagno C, Campochiaro C, et al. Hybrid FDG-PET/MR or FDG-PET/CT to detect disease activity in patients with persisting arrhythmias after myocarditis. JACC Cardiovasc Imaging 2021;14:288–292. https://doi.org/10.1016/j.jcmg.2020.03.009 163. Wicks EC, Menezes LJ, Barnes A, Mohiddin SA, Sekhri N, Porter JC, et al. Diagnostic accuracy and prognostic value of simultaneous hybrid 18F-fluorodeoxyglucose positron emission tomography/magnetic resonance imaging in cardiac sarcoidosis. Eur Heart J Cardiovasc Imaging 2018;19:757–767. https://doi.org/10.1093/ehjci/jex340 164. Youssef G, Leung E, Mylonas I, Nery P, Williams K, Wisenberg G, et al. The use of 18F-FDG PET in the diagnosis of cardiac sarcoidosis: a systematic review and metaanalysis including the Ontario experience. J Nucl Med 2012;53:241–248. https://doi.org/ 10.2967/jnumed.111.090662 165. Bravo PE, Di Carli MF, Dorbala S. Role of PET to evaluate coronary microvascular dysfunction in non-ischemic cardiomyopathies. Heart Fail Rev 2017;22:455–464. https:// doi.org/10.1007/s10741-017-9628-1 166. Perugini E, Guidalotti PL, Salvi F, Cooke RM, Pettinato C, Riva L, et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2propanodicarboxylic acid scintigraphy. J Am Coll Cardiol 2005;46:1076–1084. https:// doi.org/10.1016/j.jacc.2005.05.073 167. Hutt DF, Fontana M, Burniston M, Quigley AM, Petrie A, Ross JC, et al. Prognostic utility of the Perugini grading of 99mTc-DPD scintigraphy in transthyretin (ATTR) amyloidosis and its relationship with skeletal muscle and soft tissue amyloid. Eur Heart J Cardiovasc Imaging 2017;18:1344–1350. https://doi.org/10.1093/ehjci/jew325 168. Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 2016;133:2404–2412. https://doi.org/10.1161/CIRCULATIONAHA.116.021612 169. Langer C, Lutz M, Eden M, Ludde M, Hohnhorst M, Gierloff C, et al. Hypertrophic cardiomyopathy in cardiac CT: a validation study on the detection of intramyocardial fibrosis in consecutive patients. Int J Cardiovasc Imaging 2014;30:659–667. https://doi. org/10.1007/s10554-013-0358-8 170. Asferg C, Usinger L, Kristensen TS, Abdulla J. Accuracy of multi-slice computed tomography for measurement of left ventricular ejection fraction compared with cardiac magnetic resonance imaging and two-dimensional transthoracic echocardiography: a systematic review and meta-analysis. Eur J Radiol 2012;81:e757–e762. https://doi.org/ 10.1016/j.ejrad.2012.02.002 171. Premaratne M, Shamsaei M, Chow JD, Haddad T, Erthal F, Curran H, et al. Using coronary calcification to exclude an ischemic etiology for cardiomyopathy: a validation study and systematic review. Int J Cardiol 2017;230:518–522. https://doi.org/10. 1016/j.ijcard.2016.12.068 172. Dweck MR, Abgral R, Trivieri MG, Robson PM, Karakatsanis N, Mani V, et al. Hybrid magnetic resonance imaging and positron emission tomography with fluorodeoxyglucose to diagnose active cardiac sarcoidosis. JACC Cardiovasc Imaging 2018;11:94–107. https://doi.org/10.1016/j.jcmg.2017.02.021 173. Okumura W, Iwasaki T, Toyama T, Iso T, Arai M, Oriuchi N, et al. Usefulness of fasting 18F-FDG PET in identification of cardiac sarcoidosis. J Nucl Med 2004;45:1989–1998. 174. Besler C, Urban D, Watzka S, Lang D, Rommel KP, Kandolf R, et al. Endomyocardial miR-133a levels correlate with myocardial inflammation, improved left ventricular function, and clinical outcome in patients with inflammatory cardiomyopathy. Eur J Heart Fail 2016;18:1442–1451. https://doi.org/10.1002/ejhf.579 175. Ardehali H, Qasim A, Cappola T, Howard D, Hruban R, Hare JM, et al. Endomyocardial biopsy plays a role in diagnosing patients with unexplained cardiomyopathy. Am Heart J 2004;147:919–923. https://doi.org/10.1016/j.ahj.2003.09.020 176. Ardehali H, Howard DL, Hariri A, Qasim A, Hare JM, Baughman KL, et al. A positive endomyocardial biopsy result for sarcoid is associated with poor prognosis in patients with initially unexplained cardiomyopathy. Am Heart J 2005;150:459–463. https://doi. org/10.1016/j.ahj.2004.10.006 177. Hahn VS, Yanek LR, Vaishnav J, Ying W, Vaidya D, Lee YZJ, et al. Endomyocardial biopsy characterization of heart failure with preserved ejection fraction and prevalence of cardiac amyloidosis. JACC Heart Fail 2020; 8:712–724. https://doi.org/10.1016/j.jchf. 2020.04.007 178. Lorenzini M, Norrish G, Field E, Ochoa JP, Cicerchia M, Akhtar MM, et al. Penetrance of hypertrophic cardiomyopathy in sarcomere protein mutation carriers. J Am Coll Cardiol 2020;76:550–559. https://doi.org/10.1016/j.jacc.2020.06.011 179. Dalal D, James C, Devanagondi R, Tichnell C, Tucker A, Prakasa K, et al. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2006;48:1416–1424. https://doi.org/10. 1016/j.jacc.2006.06.045 180. Claes GR, van Tienen FH, Lindsey P, Krapels IP, Helderman-van den Enden AT, Hoos MB, et al. Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers. Eur Heart J 2016;37:1815–1822. https://doi.org/10.1093/ eurheartj/ehv522 181. James CA, Bhonsale A, Tichnell C, Murray B, Russell SD, Tandri H, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol 2013;62:1290–1297. https://doi.org/10.1016/j.jacc.2013.06.033 182. Tadros R, Francis C, Xu X, Vermeer AMC, Harper AR, Huurman R, et al. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Nat Genet 2021;53:128–134. https://doi.org/10.1038/ s41588-020-00762-2 183. Harper AR, Goel A, Grace C, Thomson KL, Petersen SE, Xu X, et al. Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. Nat Genet 2021;53:135–142. https://doi.org/10.1038/s41588- 020-00764-0 184. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014;16:601–608. https://doi.org/10.1038/gim.2013.204 185. Escobar-Lopez L, Ochoa JP, Mirelis JG, Espinosa MA, Navarro M, Gallego-Delgado M, et al. Association of genetic variants with outcomes in patients with nonischemic dilated cardiomyopathy. J Am Coll Cardiol 2021;78:1682–1699. https://doi.org/10.1016/ j.jacc.2021.08.039 186. Gigli M, Merlo M, Graw SL, Barbati G, Rowland TJ, Slavov DB, et al. Genetic risk of arrhythmic phenotypes in patients with dilated cardiomyopathy. J Am Coll Cardiol 2019; 74:1480–1490. https://doi.org/10.1016/j.jacc.2019.06.072 187. Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, et al. Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23. Eur Heart J 2021;42: 2000–2011. https://doi.org/10.1093/eurheartj/ehab030 188. Pua CJ, Tham N, Chin CWL, Walsh R, Khor CC, Toepfer CN, et al. Genetic studies of hypertrophic cardiomyopathy in Singaporeans identify variants in TNNI3 and TNNT2 ESC Guidelines 3601 Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026