Left ventricular hypertrophy: do not forget Fabry disease. Diagnostic work-up and differential diagnosis

References

• Lang RM, Badano LP, Mor-Avi V, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. Eur Heart J Cardiovasc Imaging. 2015;16(3):233–270. doi: 10.1093/ehjci/jev014.
   PubMed Web of Science ®Google Scholar
• Schirmer H, Lunde P, Rasmussen K. Prevalence of left ventricular hypertrophy in a general population; the Tromsø study. Eur Heart J. 1999;20(6):429–438. doi: 10.1053/euhj.1998.1314.
   PubMed Web of Science ®Google Scholar
• Levy D, Garrison RJ, Savage DD, et al. Prognostic implications of echocardiographically determined left ventricular mass in the framingham heart study. N Engl J Med. 1990;322(22):1561–1566. doi: 10.1056/NEJM199005313222203.
   PubMed Web of Science ®Google Scholar
• Burrage MK, Ferreira VM. Cardiovascular magnetic resonance for the differentiation of left ventricular hypertrophy. Curr Heart Fail Rep. 2020;17(5):192–204. doi: 10.1007/s11897-020-00481-z.
   PubMed Web of Science ®Google Scholar
• Linhart A, Germain DP, Olivotto I, et al. An expert consensus document on the management of cardiovascular manifestations of fabry disease. Eur J Heart Fail. 2020;22(7):1076–1096. doi: 10.1002/ejhf.1960.
   PubMed Web of Science ®Google Scholar
• Echevarria L, Benistan K, Toussaint A, et al. X-chromosome inactivation in female patients with fabry disease. Clin Genet. 2016;89(1):44–54. doi: 10.1111/cge.12613.
   PubMed Web of Science ®Google Scholar
• Rubino M, Monda E, Lioncino M, et al. Diagnosis and management of cardiovascular involvement in fabry disease. Heart Fail Clin. 2022;18(1):39–49. doi: 10.1016/j.hfc.2021.07.005.
   PubMed Web of Science ®Google Scholar
• Lee CL, Lin SP, Niu DM, et al. Fabry disease and the effectiveness of enzyme replacement therapy (ERT) in left ventricular hypertrophy (LVH) improvement: a review and Meta-Analysis. Int J Med Sci. 2022;19(1):126–131. doi: 10.7150/ijms.66448.
   PubMed Web of Science ®Google Scholar
• Vardarli I, Weber M, Rischpler C, et al. Fabry cardiomyopathy: current treatment and future options. Clin Med. 2021;10:3026. doi: 10.3390/jcm10143026.
   Web of Science ®Google Scholar
• Zarate YA, Hopkin RJ. Fabry’s disease. Lancet. 2008;372(9647):1427–1435. doi: 10.1016/S0140-6736(08)61589-5.
   PubMed Web of Science ®Google Scholar
• Elliott P, Baker R, Pasquale F, et al. Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the european Anderson-Fabry disease survey. Heart. 2011;97(23):1957–1960. doi: 10.1136/heartjnl-2011-300364.
   PubMed Web of Science ®Google Scholar
• Palecek T, Honzikova J, Poupetova H, et al. Prevalence of fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective fabry cardiomyopathy screening study (FACSS). J Inherit Metab Dis. 2014;37(3):455–460. doi: 10.1007/s10545-013-9659-2.
   PubMed Web of Science ®Google Scholar
• Martinez MW, Kim JH, Shah AB, et al. Exercise-induced cardiovascular adaptations and approach to exercise and cardiovascular disease: JACC state-of-the-art review. J Am Coll Cardiol. 2021;78(14):1453–1470. doi: 10.1016/j.jacc.2021.08.003.
   PubMed Web of Science ®Google Scholar
• Abecasis J, Gomes Pinto D, Ramos S, et al. Left ventricular remodeling in degenerative aortic valve stenosis. Curr Probl Cardiol. 2021;46(5):100801. doi: 10.1016/j.cpcardiol.2021.100801.
   PubMed Web of Science ®Google Scholar
• Maron BJ, Desai MY, Nishimura RA, et al. Diagnosis and evaluation of hypertrophic cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol. 2022;79(4):372–389. doi: 10.1016/j.jacc.2021.12.002.
   PubMed Web of Science ®Google Scholar
• Vydt TC, de Coo RF, Soliman OI, et al. Cardiac involvement in adults with m.3243A > G MELAS gene mutation. Am J Cardiol. 2007;99(2):264–269. doi: 10.1016/j.amjcard.2006.07.089.
   PubMed Web of Science ®Google Scholar
• Florian A, Ludwig A, Stubbe-Dräger B, et al. Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy. J Cardiovasc Magn Reson. 2015;17(1):40. doi: 10.1186/s12968-015-0145-x.
   PubMedGoogle Scholar
• Devereux RB. Is the electrocardiogram still useful for detection of left ventricular hypertrophy? Circulation. 1990;81(3):1144–1146. doi: 10.1161/01.cir.81.3.1144.
   PubMed Web of Science ®Google Scholar
• Monda E, Palmiero G, Lioncino M, et al. Multimodality imaging in cardiomyopathies with hypertrophic phenotypes. J Clin Med. 2022;11(3):868. doi: 10.3390/jcm11030868.
   PubMed Web of Science ®Google Scholar
• Canepa M, Pozios I, Vianello PF, et al. Distinguishing ventricular septal bulge versus hypertrophic cardiomyopathy in the elderly. Heart. 2016;102(14):1087–1094. doi: 10.1136/heartjnl-2015-308764.
   PubMed Web of Science ®Google Scholar
• Massera D, McClelland RL, Ambale-Venkatesh B, et al. Prevalence of unexplained left ventricular hypertrophy by cardiac magnetic resonance imaging in MESA. J Am Heart Assoc. 2019;8:e012250.
   PubMed Web of Science ®Google Scholar
• Phelan D, Collier P, Thavendiranathan P, et al. Relative apical sparing of longitudinal strain using two-dimensional speckle-tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis. Heart. 2012;98(19):1442–1448. doi: 10.1136/heartjnl-2012-302353.
   PubMed Web of Science ®Google Scholar
• Manabe O, Oyama-Manabe N, Aikawa T, et al. Advances in diagnostic imaging for cardiac sarcoidosis. Clin Med. 2021;10:5808. doi: 10.3390/jcm10245808.
   Web of Science ®Google Scholar
• Wand AL, Chrispin J, Saad E, et al. Current state and future directions of multimodality imaging in cardiac sarcoidosis. Front Cardiovasc Med. 2021;278:785279. doi: 10.3389/fcvm.2021.785279.
   PubMed Web of Science ®Google Scholar
• Karamitsos TD, Francis JM, Myerson S, et al. The role of cardiovascular magnetic resonance imaging in heart failure. J Am Coll Cardiol. 2009;54(15):1407–1424. doi: 10.1016/j.jacc.2009.04.094.
   PubMed Web of Science ®Google Scholar
• Nakou E, Patel RK, Fontana M, et al. Cardiovascular magnetic resonance parametric mapping techniques: clinical applications and limitations. Curr Cardiol Rep. 2021;23(12):185. doi: 10.1007/s11886-021-01607-y.
   PubMed Web of Science ®Google Scholar
• Karamitsos TD, Piechnik SK, Banypersad SM, et al. Noncontrast T1 mapping for the diagnosis of cardiac amyloidosis. JACC Cardiovasc Imaging. 2013;6(4):488–497. doi: 10.1016/j.jcmg.2012.11.013.
   PubMed Web of Science ®Google Scholar
• Lewis AJM, Burrage MK, Ferreira VM. Cardiovascular magnetic resonance imaging for inflammatory heart diseases. Cardiovasc Diagn Ther. 2020;10(3):598–609. doi: 10.21037/cdt.2019.12.09.
   PubMed Web of Science ®Google Scholar
• Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international fabry outcome survey. Eur Heart J. 2007;28(10):1228–1235. doi: 10.1093/eurheartj/ehm153.
   PubMed Web of Science ®Google Scholar
• Rapezzi C, Arbustini E, Caforio AL, et al. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC working group on myocardial and pericardial diseases. Eur Heart J. 2013;34(19):1448–1458. doi: 10.1093/eurheartj/ehs397.
   PubMed Web of Science ®Google Scholar
• Force Members A, Elliott PM, Anastasakis A, et al. ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35:2733–2479.
   PubMed Web of Science ®Google Scholar
• Namdar M, Steffel J, Vidovic M, et al. Electrocardiographic changes in early recognition of fabry disease. Heart. 2011;97(6):485–490. doi: 10.1136/hrt.2010.211789.
   PubMed Web of Science ®Google Scholar
• O’Mahony C, Coats C, Cardona M, et al. Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease. Europace. 2011;13(12):1781–1788. doi: 10.1093/europace/eur267.
   PubMed Web of Science ®Google Scholar
• Hemelsoet D, De Keyser J, Van Heuverswyn F, et al. Screening for fabry disease in male patients with arrhythmia requiring a pacemaker or an implantable cardioverter-defibrillator. Circulation. 2021;143(8):872–874. doi: 10.1161/CIRCULATIONAHA.120.051400.
   PubMed Web of Science ®Google Scholar
• Baig S, Edward NC, Kotecha D, et al. Ventricular arrhthmia and sudden cardiac death in fabry disease: a systematic review of risk factors in clinical practice. Europace. 2018;20(FI2):f153–f161. doi: 10.1093/europace/eux261.
   PubMedGoogle Scholar
• Figliozzi S, Camporeale A, Boveri S, et al. ECG-based score estimates the probability to detect fabry disease cardiac involvement. Int J Cardiol. 2021;339:110–117. doi: 10.1016/j.ijcard.2021.07.022.
   PubMed Web of Science ®Google Scholar
• Kozor R, Grieve SM, Tchan MC, et al. Cardiac involvement in genotype-positive fabry disease patients assessed by cardiovascular MR. Heart. 2016;102(4):298–302. doi: 10.1136/heartjnl-2015-308494.
   PubMed Web of Science ®Google Scholar
• Calcagnino M, O’Mahony C, Coats C, et al. Exercise-induced left ventricular outflow tract obstruction in symptomatic patients with Anderson-Fabry disease. J Am Coll Cardiol. 2011;58(1):88–89. doi: 10.1016/j.jacc.2011.03.020.
   PubMed Web of Science ®Google Scholar
• Niemann M, Liu D, Hu K, et al. Prominent papillary muscles in fabry disease: a diagnostic marker? Ultrasound Med Biol. 2011;37(1):37–43. doi: 10.1016/j.ultrasmedbio.2010.10.017.
   PubMed Web of Science ®Google Scholar
• Graziani F, Laurito M, Pieroni M, et al. Right ventricular hypertrophy, systolic function, and disease severity in anderson-fabry disease: an echocardiographic study. J Am Soc Echocardiogr. 2017;30(3):282–291. doi: 10.1016/j.echo.2016.11.014.
   PubMed Web of Science ®Google Scholar
• Graziani F, Lillo R, Panaioli E, et al. Prognostic significance of right ventricular hypertrophy and systolic function in Anderson-Fabry disease. ESC Heart Fail. 2020;7(4):1605–1614. doi: 10.1002/ehf2.12712.
   PubMed Web of Science ®Google Scholar
• Deva DP, Hanneman K, Li Q, et al. Cardiovascular ­magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease. J Cardiovasc Magn Reson. 2016;18:14. doi: 10.1186/s12968-016-0233-6.
   PubMed Web of Science ®Google Scholar
• Koskenvuo JW, Engblom E, Kantola IM, et al. Echocardiography in fabry disease: diagnostic value of endocardial border binary appearance. Clin Physiol Funct Imaging. 2009;29(3):177–180. doi: 10.1111/j.1475-097X.2008.00851.x.
   PubMed Web of Science ®Google Scholar
• Camporeale A, Pieroni M, Pieruzzi F, et al. Predictors of clinical evolution in prehypertrophic fabry disease. Circ Cardiovasc Imaging. 2019;12(4):e008424. doi: 10.1161/CIRCIMAGING.118.008424.
   PubMed Web of Science ®Google Scholar
• Desnick RJ, Blieden LC, Sharp HL, et al. Cardiac valvular anomalies in fabry disease. Clinical, morphologic, and biochemical studies. Circulation. 1976;54(5):818–825. doi: 10.1161/01.cir.54.5.818.
   PubMed Web of Science ®Google Scholar
• Militaru S, Ginghina C, Popescu BA, et al. Multimodality imaging in fabry cardiomyopathy: from early diagnosis to therapeutic targets. Eur Heart J Cardiovasc Imaging. 2018;19:1313–1322.
   PubMed Web of Science ®Google Scholar
• Pieroni M, Moon JC, Arbustini E, et al. Cardiac involvement in fabry disease: JACC review topic of the week. J Am Coll Cardiol. 2021;77:922–936.
   PubMed Web of Science ®Google Scholar
• Moiseev S, Tao E, Moiseev A, et al. The benefits of family screening in rare diseases: genetic testing reveals 165 new cases of fabry disease among at-risk family members of 83 index patients. Genes. 2022;13(9):1619. doi: 10.3390/genes13091619.
   PubMed Web of Science ®Google Scholar
• Weidemann F, Niemann M, Breunig F, et al. Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. 2009;119(4):524–529. doi: 10.1161/CIRCULATIONAHA.108.794529.
   PubMed Web of Science ®Google Scholar