ABC | Volume 113, Nº2, Agosto 2019

Artigo de Revisão Lamounier Júnior et al. Genética e miocardiopatia dilatada Arq Bras Cardiol. 2019; 113(2):274-281 Figura 2 – Heredograma do caso índice, mostrando acometimento em parentes de primeiro, segundo e terceiro grau. FA: fibrilação atrial. I.1 Morte súbita 36 anos III.3 Morte súbita aos 46anos III.4 Morte súbita 45 anos V.1 Idade 10 anos V.2 Idade 8 anos IV.2 E1–/+ Miocardiopatia dilatada+FA Diagnóstico 29 anos Transplante cardíaco 31 anos III.7 Morte súbita 49 anos III.8 Morte súbita 48 anos III.11 Morte súbitaaos39 anos II.2 Miocardiopatia dilatada II.3 Miocardiopatia dilatada III.2 Miocardiopatia dilatada II.1 II.4 III.1 IV.1 P IV.3 III.5 III.6 III.9 III.10 I.2 Morte súbita32 anos 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, HuangH, Li JJ, Jin JY, Xiang R. A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy. Ann Hum Genet. 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. Referências 280