Abordagens atuais e perspectivas futuras sobre cardiomiopatia hipertrófica
DOI:
https://doi.org/10.11606/issn.1679-9836.v103i6e-222662Palavras-chave:
Morte cardíaca súbita, Cardiomiopatia Hipertrófica, Insuficiência cardíacaResumo
A cardiomiopatia hipertrófica (CMH) é uma doença cardíaca genética caracterizada por hipertrofia miocárdica intensa e fibrose de extensão variável, sendo a doença cardíaca genética mais comum, com prevalência de até 0,5% na população geral. Apesar de frequentemente subdiagnosticada, a CMH é a principal causa de morte súbita em adolescentes e adultos jovens, especialmente atletas. Avanços significativos nas últimas décadas em engenharia genética e biotecnologia têm aprimorado o diagnóstico precoce e a prevenção da morte súbita. Este estudo revisa os métodos diagnósticos e terapêuticos da CMH, com ênfase em novas estratégias de estratificação de risco, terapia gênica e uso de biomarcadores, além de destacar a necessidade de mais pesquisas para a implementação clínica dessas inovações. Uma revisão narrativa foi conduzida a partir de 65 artigos selecionados, abordando temas como patofisiologia, genética, métodos diagnósticos, tratamento e perspectivas futuras.
Downloads
Referências
Valdigem BP, Correia EB, Moreira DAR, Bihan DL, Pinto IMF, Abizaid AAC, Andalaft RB, et al. Ablação Septal com Cateteres e Radiofrequência Guiada pela Ecocardiografia para Tratamento de Pacientes com Cardiomiopatia Hipertrófica Obstrutiva: Experiência Inicial. Arq. Bras. Cardiol. 2022;118(5):861-72. Doi: 10.36660/abc.20200732.
Bazan SGZ, Oliveira GO, Silveira CFSMP, Reis FM, Malagutte KNDS, Tinasi LSN, et al. Cardiomiopatia Hipertrófica – Revisão. Arq Bras Cardiol. 2020;115(5):927-35. Doi: https://doi.org/10.36660/abc.20190802
Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from de Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Func- tioning Groups; and Council on Epidemiology and Pre- vention. Circulation. 2006;113:1807-16. Doi: 10.1161/CIRCULATIONAHA.106.174287.
Maron BJ, Gardin JM, Flack M, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation. 1995;92:785-9. Doi: 10.1161/01.cir.92.4.785.
Ciarambino T, Menna G, Sansone G, Giordano M. Cardiomyopathies: An Overview. Int J Mol Sci. 2021;22(14):7722. Doi: 10.3390/ijms22147722. PMID: 34299342; PMCID: PMC8303989.
Mestroni L, Maisch B, McKenna WJ, Schwartz K, Charon P, Rocco C, et al. Guidelines for the study of familial dilated cardiomyopathies. Eur Heart J. 1999;20:93-102.
ZIPES, D. et al. Braunwald: Tratado de doenças cardiovasculares. 11 ed. Rio de Janeiro: Grupo Editorial Nacional S.A., 2022.
Oliveira Jr MT, Villacorta H, Bittencourt MI, Barretto ACP, Mesquita ET, Rohde LE. Tópicos Emergentes em Insuficiência Cardíaca: Perspectivas Futuras. Arq Bras Cardiol. 2020;115(6):1197-200. Doi: 10.36660/abc.20201205
McKenna WJ, Harris L, Rowland E, Kleinebenne A, Krikler DM, Oakley CM, Goodwin JF. Amiodarone for long-term management of patients with hypertrophic cardiomyopathy. Am J Cardiol. 1984;54(7):802-10. Doi: 10.1016/s0002-9149(84)80212-x
Edelberg JM, Sehnert AJ, Mealiffe ME, Del Rio CL, McDowell R. The Impact of Mavacamten on the Pathophysiology of Hypertrophic Cardiomyopathy: A Narrative Review. Am J Cardiovasc Drugs. 2022(5):497-510. Doi: 10.1007/s40256-022-00532-x. Epub 2022 Apr 18. PMID: 35435607; PMCID: PMC9467968.
Maron BJ, Desai MY, Nishimura RA, Spirito P, Rakowski H, Towbin JA, Rowin EJ, Maron MS, Sherrid MV. Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review. J Am Coll Cardiol. 2022;79(4):372-89. Doi: 10.1016/j.jacc.2021.12.002. PMID: 35086660
Cardim N, Galderisi M, Edvardsen T, Plein S, Popescu BA, D'Andrea A, et al. Role of multimodality cardiac imaging in the management of patients with hypertrophic cardiomyopathy: an expert consensus of the European Association of Cardiovascular Imaging Endorsed by the Saudi Heart Association. Eur Heart J Cardiovasc Imaging. 2015;16(3):280-314. Doi: 10.1093/ehjci/jeu291.
Litt MJ, Ali A, Reza N. Familial Hypertrophic Cardiomyopathy: Diagnosis and Management. Vasc Health Risk Manag. 2023;19:211-21. Doi: 10.2147/VHRM.S365001. PMID: 37050929; PMCID: PMC10084873.
Finocchiaro G, Sheikh N, Biagini E, Papadakis M, Maurizi N, Sinagra G, et al. The electrocardiogram in the diagnosis and management of patients with hypertrophic cardiomyopathy. Heart Rhythm. 2020;17(1):142-51. Doi: 10.1016/j.hrthm.2019.07.019.
Zhang J, Gajjala S, Agrawal P, Tison GH, Hallock LA, Beussink-Nelson L, et al. Fully Automated Echocardiogram Interpretation Clin Pract Circul. 2018;138(16):1623-1635. Doi: 10.1161/CIRCULATIONAHA.118.034338.
Habib M, Adler A, Fardfini K, Hoss S, Hanneman K, Rowin EJ, Maron MS, Maron BJ, Rakowski H, Chan RH. Progression of Myocardial Fibrosis in Hypertrophic Cardiomyopathy: A Cardiac Magnetic Resonance Study. JACC Cardiovasc Imaging. 2021(5):947-58. Doi: 10.1016/j.jcmg.2020.09.037.
Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, et al. Genotype and lifetime burden of disease in hypertrophic cardiomyopathy: insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). Circulation. 2018;138(14):1387-98. Doi: 10.1161/CIRCULATIONAHA.117.033200.
Walsh R, Buchan R, Wilk A, John S, Felkin LE, Thomson KL, et al. Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. Eur Heart J. 2017;38(46):3461-8. Doi: 10.1093/eurheartj/ehw603.
Marian AJ, Braunwald E. Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circ Res. 2017;121(7):749-70. Doi: 10.1161/CIRCRESAHA.117.311059.
Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997(16):379-82. Doi: https://doi.org/10.1038/ng0897-379
Cecchi F, Olivotto I. New concepts in hypertrophic cardiomyopathies. Circulation. 2002;105(23):e188; author reply e188. Doi: 10.1161/01.cir.0000018748.43370.a4. PMID: 12058000.
Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol. 2011;58(25):e212-e260. Doi: 10.1161/CIR.0b013e318223e230
Maron B, Wang RB, Carnethon M, Rowin E, Loscalzo J, Maron B, et al. What Causes Hypertrophic Cardiomyopathy? Am J Cardiol. 2022;179:74-82. Doi: https://doi.org/10.1016/j.amjcard.2022.06.017
Spirito P, Autore C. Management of hypertrophic cardiomyopathy. BMJ. 2006;332(7552):1251-5. Doi: 10.1136/bmj.332.7552.1251.
Rehm HL. Evolving health care through personal genomics. Nat Rev Genet. 2017;18(4):259-67. Doi: 10.1038/nrg.2016.162.
Gahl WA, Markello TC. Clinical genome sequencing. NEJM. 2017;377(15):1483-95. Doi: 10.1056/NEJMoa1109910
Bonaventura J, Polakova E, Vejtasova V, Veselka J. Genetic Testing in Patients with Hypertrophic Cardiomyopathy. Int J Mol Sci. 2021;22(19):10401. Doi: 10.3390/ijms221910401.
Marian AJ. Molecular Genetic Basis of Hypertrophic Cardiomyopathy. Circ Res. 2021;128(10):1533-53. Doi: 10.1161/CIRCRESAHA.121.318346.
Ingles J, Burns C, Barratt A, Semsarian C. Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection. Circ Cardiovasc Genet. 2015;8(6):852-9. Doi: 10.1161/CIRCGENETICS.115.001093.
O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, et al. Hypertrophic Cardiomyopathy Outcomes Investigators. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J. 2014;35(30):2010-20. Doi: 10.1093/eurheartj/eht439.
Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107(17):2227-32. Doi: 10.1161/01.CIR.0000066323.15244.54.
Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, et al. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy. Circulation. 2020;142(25). Doi: https://doi.org/10.1161/cir.0000000000000937
Fatkin D, Calkins H, Elliott P, James CA, Peters S, Kovacic JC. Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies: JACC Focus Seminar 3/5. J Am Coll Cardiol. 2021;77(20):2551-72. Doi: 10.1016/j.jacc.2020.12.072.
Christian S, Cirino A, Hansen B, Harris S, Murad AM, Natoli JL, et al. Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis. Open Heart. 2022;9(1):e001815. Doi: 10.1136/openhrt-2021-001815.
Marian AJ, Braunwald E. Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circ Res. 2017;121(7):749-70. Doi: 10.1161/CIRCRESAHA.117.311059.
Maron BJ. Contemporary Definitions and Classification of the Cardiomyopathies: An American Heart Association Scientific Statement From the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113(14):1807-16. Doi:10.1161/circulationaha.106.174287
Girolami F, Gozzini A, Pálinkás ED, Ballerini A, Tomberli A, Baldini K, et al. Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions. J Clin Med. 2023;12(7):2489. Doi: 10.3390/jcm12072489.
Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, et al. Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ. Genom. Precis. Med. 2019;12:e002460. Doi: 10.1161/CIRCGEN.119.002460.
Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin Proc. 2005;80(6):739-44. Doi: 10.1016/S0025-6196(11)61527-9.
Livotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E, et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo. Clin. Proc. 2008;83:630-8. Doi: 10.1016/S0025-6196(11)60890-2.
Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Heart Rhythm. 2013;10(12):1932-63. Doi: 10.1016/j.hrthm.2013.05.014.
Zipes D. et al. Braunwald: Tratado de doenças cardiovasculares. 11 ed. Rio de Janeiro: Grupo Editorial Nacional S.A., 2022. ISBN: 9788595159181
Mandeş L, Roşca M, Ciupercă D, Popescu BA. The role of echocardiography for diagnosis and prognostic stratification in hypertrophic cardiomyopathy. J Echocardiogr. 2020;18(3):137-48. Doi: 10.1007/s12574-020-00467-9.
Maron BJ, Ommen SR, Semsarian C, Spirito P, Olivotto I, Maron MS. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. J Am Coll Cardiol. 2014;64(1):83-99. Doi: 10.1016/j.jacc.2014.05.003.
Ommen SR, Maron BJ, Olivotto I, Maron MS, Cecchi F, Betocchi S, et al. Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol. 2005;46:470-6. Doi: 10.1016/j.jacc.2005.02.090
Ball W, Ivanov J, Rakowski H, Wigle ED, Linghorne M, Ralph-Edwards A, et al. Long-term survival in patients with resting obstructive hypertrophic cardiomyopathy comparison of conservative versus invasive treatment. J Am Coll Cardiol. 2011;58(22):2313-21. Doi: 10.1016/j.jacc.2011.08.040.
Maron BJ, Dearani JA, Ommen SR, Maron MS, Schaff HV, Nishimura RA, et al. Low Operative Mortality Achieved With Surgical Septal Myectomy: Role of Dedicated Hypertrophic Cardiomyopathy Centers in the Management of Dynamic Subaortic Obstruction. J Am Coll Cardiol. 2015;66(11):1307-8. Doi: 10.1016/j.jacc.2015.06.1333.
Oliveira JR, Mucio Tavares de; Villacorta H, Bittencourt MI, Barretto ACP, Mesquita ET, et al. Tópicos Emergentes em Insuficiência Cardíaca: Perspectivas Futuras. Arq Bras Cardiol., 2020;115(6):1197-200. Doi: 10.36660/abc.20201205
Coats CJ, Heywood WE, Virasami A, Ashrafi N, Syrris P, Dos Remedios C, et al. Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy. Circ Genom Precis Med. 2018;11(12):e001974. Doi: 10.1161/CIRCGEN.117.001974.
Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am College Cardiol. 2012;60(8):705-15. Doi: 10.1016/j.jacc.2012.02.068
O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, et al. Hypertrophic Cardiomyopathy Outcomes Investigators. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J. 2014;35(30):2010-20. Doi: 10.1093/eurheartj/eht439.
Mearini G, Stimpel D, Geertz B, et al. Gene Therapy Approaches to Treat Cardiomyopathies. Current Heart Failure Reports. 2020;17(4):139-149. doi: 10.1007/s11897-020-00468-6
Arnett DK, Blumenthal RS, Albert MA, Buroker AB, Goldberger ZD, Hahn EJ, et al. ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019;140(11). Doi:10.1161/cir.0000000000000678
Yancy CW, Januzzi JL, Allen LA, Butler J, Davis LL, Fonarow GC, et al. 2017 ACC Expert Consensus Decision Pathway for Optimization of Heart Failure Treatment: Answers to 10 Pivotal Issues About Heart Failure With Reduced Ejection Fraction: A Report of the American College of Cardiology Task Force on Expert Consensus Decision Pathways. J Am Coll Cardiol. 2018;71(2):201-30. Doi:10.1016/j.jacc.2017.11.025
Verma A, McMurray JJV. SGLT2 inhibitors and mechanisms of cardiovascular benefit: A state-of-the-art review. Diabetologia. 2018;61(10):2108-17. Doi:10.1007/s00125-018-4688-z
Lewis GD, Gerszten RE. Toward the use of biomarkers in cardiovascular clinical trials. Curr Opin Cardiol. 2020;35(3):234-40. Doi:10.1097/HCO.0000000000000729
Senn T, Hazen SL, Tang WH. Translating metabolomics to cardiovascular biomarkers. Prog Cardiovasc Dis. 2012;55(1):70-6. Doi: 10.1016/j.pcad.2012.06.004.
Hajjar RJ. Gene Therapy for Hypertrophic Cardiomyopathy. Circulation Research. 2019;125(3):233-5. Doi: 10.1161/CIRCRESAHA.119.315353
Judge DP. Genome Editing for Treatment of Hypertrophic Cardiomyopathy: Is It Time? JACC: Basic to Translational Science. 2020;5(5):416-418. Doi: 10.1016/j.jacbts.2020.02.002
Lee P, Kim C, Kim D-H. Genome editing in cardiovascular diseases. Korean Journal of Internal Medicine. 2019;34(3):470-81. Doi: 10.3904/kjim.2018.361
Cheng R, Lu X, Jin Z, et al. Protein kinase D1 inhibitor CID755673 attenuates pathological cardiac hypertrophy via blocking the extracellular signal-regulated kinase 1/2 and glycogen synthase kinase 3βpathways. Journal of Cellular and Molecular Medicine. 2019;23(8):5529-5537. Doi: 10.1038/sj.bjp.0707659
Gilson SJ, Mayne J, Diaz Z, et al. Myostatin inhibition with a specific aptamer induces a lean phenotype without severe pathological effects. Journal of Cachexia, Sarcopenia and Muscle. 2021;12(3):504-20. Doi: 10.3390/nu13051508
Maron BA, Wang RS, Carnethon MR, Rowin EJ, Loscalzo J, Maron BJ, Maron MS. What Causes Hypertrophic Cardiomyopathy? Am J Cardiol. 2022;179:74-82. Doi: 10.1016/j.amjcard.2022.06.017.
Poggesi G, Ferrantini C, Servettini E, Girolami F, Cecchi F, Olivotto I. Progressione di malattia e disfunzione sistolica nei pazienti con cardiomiopatia ipertrofica: basi genetiche, fisiopatologia e presentazione clinica [Disease progression and systolic dysfunction in patients with hypertrophic cardiomyopathy: genetic basis, pathophysiology and clinical presentation]. G Ital Cardiol (Rome). 2011 Dec;12(12):815-23. Italian. Doi: 10.1714/996.10826.
Valdigem BP, Correia EB, Moreira DAR, Bihan D, Pinto IMF, et al. Ablação Septal com Cateteres e Radiofrequência Guiada pela Ecocardiografia para Tratamento de Pacientes com Cardiomiopatia Hipertrófica Obstrutiva: Experiência Inicial. Arq Bras Cardiol. 2022;118(5):861-72. Doi: 10.36660/abc.20200732
Downloads
Publicado
Edição
Seção
Licença
Copyright (c) 2024 Hanin El Husseini El Husseini, Eise Souza do Vale, Erika Resner Zschoerper, Maria Luiza Vaz Ferraz, Mariana Romiti Ferreiro, Rafaela Santana Falkowski , Luiz Antonio Fruet Bettini
Este trabalho está licenciado sob uma licença Creative Commons Attribution-ShareAlike 4.0 International License.
