ABC | Volume 113, Nº2, August 2019

Review Article Lamounier Júnior et al. Genetic and dilated cardiomyopathy Arq Bras Cardiol. 2019; 113(2):274-281 1. Weber R, Kantor P, Chitayat D, Friedberg MK, Golding F, Mertens L, et al. Spectrumand outcome of primary cardiomyopathies diagnosed during fetal life. JACC Heart Fail. 2014;2(4):403-11. 2. Pinto YM, Elliott PM, Arbustini E, Adler Y, Anastasakis A, Böhm M, et al. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESCworking group onmyocardial and pericardial diseases. Eur Heart J. 2016 Jun 14;37(23):1850-8. 3. Bakalakos A, Ritsatos K, Anastasakis A. Current perspectives on the diagnosis and management of dilated cardiomyopathy Beyond heart failure: a Cardiomyopathy ClinicDoctor’s point of view. Hellenic J Cardiol. 2018May 25. pii: S1109-9666(17)30370-6. 4. Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013;10(9):531-47. 5. Dadson K, Hauck L, Billia F. Molecular mechanisms in cardiomyopathy. Clin Sci (Lond). 2017;131(13):1375-92. 6. Merlo M, Cannatà A, Gobbo M, Stolfo D, Elliott PM, Sinagra G. Evolving concepts in dilated cardiomyopathy. Eur J Heart Fail. 2018;20(2):228-39. 7. Hershberger RE, Cowan J, Morales A, Siegfried JD. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Circ Heart Fail. 2009;2(3):253-61. 8. Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn. 2013 Mar;15(2):158-70. 9. Hershberger RE, GivertzMM, Ho CY, JudgeDP, Kantor PF, McBride KL, et al. Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May;24(5):281-302. 10. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, et al. European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Genetic counseling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31(22):2715-26. 11. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366 (7):619-28. 12. Cuenca S , Ruiz-CanoMJ , Gimeno-Blanes JR, Jurado A, Salas C, Gomez-Diaz I, et al. Inherited Cardiac Diseases Program of the Spanish Cardiovascular Research Network (Red Investigación Cardiovascular). Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. J Heart Lung Transplant. 2016;35(5):625-35. 13. Zhang SB, Liu YX, Fan LL, Huang H, Li JJ, Jin JY, Xiang R. A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinesefamilywithdilatedcardiomyopathy.AnnHumGenet.2019;83(2):95-9. 14. Xu YJ, Wang ZS, Yang CX, Di RM, Qiao Q, Li XM, Gu JN, et al. Identification and Functional Characterization of an ISL1Mutation Predisposing toDilated Cardiomyopathy. J Cardiovasc Transl Res. 2018 Dec 10;13(2) doi 10.1007/ s12265-018-9851-8. 15. Forleo C, D’Erchia AM, Sorrentino S, Manzari C, Chiara M, Iacoviello M, et al. Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies. PLoS One. 2017;12(7):e0181842. 16. Minoche AE, Horvat C, Johnson R, Gayevskiy V, Morton SU, Drew AP, et al. Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. Genet Med. 2019;21(3):650-62. 17. Park HY. Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics. Korean Circ J. 2017;47(3):291–8. 18. SteinR,TrujilloJP,SilveiraAD,JúniorAL,IglesiasLM.AvaliaçãoGenética,Estudo Familiar e Exercício. Arq Bras Cardiol. 2017; [online].ahead print, PP.0-0. 19. Kumar S, Baldinger SH, Gandjbakhch E, Maury P, Sellal JM, Androulakis AF, et al. Long-term arrhythmic and non arrhythmic outcomes of lamin A/C mutation carriers. J Am Coll Cardiol. 2016;68(21):2299–307. 20. Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, et al. Truncating FLNC Mutations Are Associated With High- Risk Dilated and Arrhythmogenic Cardiomyopathies. J Am Coll Cardiol. 2016;68(22):2440-51. 21. Domínguez F, Cuenca S, Bili ń ska Z, Toro R, Villard E, Barriales-Villa R, et al. European Genetic Cardiomyopathies Initiative Investigators. Dilated Cardiomyopathy Due to BLC2-AssociatedAthanogene 3 (BAG3) Mutations. J Am Coll Cardiol. 2018;72(20):2471-81. 22. TayalU,PrasadS,CookSA.Geneticsandgenomicsofdilatedcardiomyopathy and systolic heart failure. Genome Med. 2017;9(1):20. 23. McNally EM, Mestroni L. Dilated Cardiomyopathy: Genetic Determinants and Mechanisms. Circ Res. 2017;121(7):731-48. 24. Ware JS, Cook SA. Role of titin in cardiomyopathy: from DNA variants to patient stratification. Nat Rev Cardiol. 2018;15(4):241-52. 25. Peña-Peña ML, Monserrat L. Papel de la genética en la estratificación del riesgo de pacientes con miocardiopatía dilatada no isquémica. Rev Esp Cardiol. 2019;72(4):277-362. 26. Seidelmann SB, Laur O, Hwa J, Depasquale E, Bellumkonda L, Sugeng L, et al. Familial dilated cardiomyopathy diagnosis is commonly overlooked at the time of transplant listing. J Heart Lung Transplant. 2016;35(4):474-80. 27. FranaszczykM,ChmielewskiP,TruszkowskaG,StawinskiP,MichalakE,Rydzanicz M, et al. Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-PhenotypeCorrelations.PLoSOne.2017;12(1):e0169007. 28. RobertsAM,WareJS,HermanDS,SchaferS,BaksiJ,BickAG,etal.Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med. 2015;7(270):270ra6. 29. Cicerchia MN, Pena Pena ML, Salazar Mendiguchia J, Ochoa J, Lamounier Jr A, Trujillo JP. Prognostic implications of pathogenic truncating variants in the TTN gene. Eur Heart J. 2018;39(Suppl 1):875. 30. TayalU,NewsomeS,BuchanR,WhiffinN,WalshR,BartonPJ,etal.Truncating variants in titin independently predicts early arrhythmias in patients with dilated cardiomyopathy. J AmColl Cardiol. 2017;69(19):2466–8. 31. Ware JS, Li J, Mazaika E, Yasso CM, DeSouza T, Cappola TP, et al. Shared Genetic Predisposition in PeripartumandDilatedCardiomyopathies. NEngl J Med. 2016;374(3):233-41. 32. LinschotenM,TeskeAJ,Baas AF, Vink A,DooijesD, Baars HF, et al.Truncating Titin (TTN) Variants in Chemotherapy-InducedCardiomyopathy. J Card Fail. 2017;23(6):476-9. 33. 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