Casi todas son trastornos de un solo gen autosómico dominante | 16 JUN 19

Miocardiopatías hereditarias

En esta actualización los autores proporcionan una visión general del diagnóstico, la evaluación genética y el tratamiento de las miocardiopatías hereditarias destinada a los profesionales que no son especialistas.
Autor: Miles C Fanton Z, Tome M, Behr EH BMJ 2019; 365:l1570
INDICE:  1. Página 1 | 2. Referencias bibliográficas
Referencias bibliográficas

1 Davies MJ. The cardiomyopathies: an overview. Heart 2000; 83:469-74. 10.1136/heart.83.4.469 10722553

2 Maron BJ, Gardin JM, Flack JM, 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. 10.1161/01.CIR.92.4.785 7641357

3 Hada Y, Sakamoto T, Amano K, etal . Prevalence of hypertrophic cardiomyopathy in a population of adult Japanese workers as detected by echocardiographic screening. Am J Cardiol 1987;59: 183-4. 10.1016/S0002-9149(87)80107-8 3812242

4 Maron BJ, Spirito P, Roman MJ, etal . Prevalence of hypertrophic cardiomyopathy in a population-based sample of American Indians aged 51 to 77 years (the Strong Heart Study). Am J Cardiol 2004; 93:1510-4. 10.1016/j.amjcard.2004.03.007 15194022

5 Codd MB, Sugrue DD, Gersh BJ, Melton LJ3rd. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation 1989; 80:564-72. 10.1161/01.CIR.80.3.564 2766509

6 Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol 2013; 10:531-47. 10.1038/nrcardio.2013.105 23900355

7 Pilichou K, Thiene G, Bauce B, etal . Arrhythmogenic cardiomyopathy. Orphanet J Rare Dis 2016;11:33. 10.1186/s13023-016-0407-1. 27038780

8 Corrado D, Basso C, Judge DP. Arrhythmogenic Cardiomyopathy. Circ Res 2017;121:784-802. 10.1161/CIRCRESAHA.117.309345 28912183

9 Charron P, Elliott PM, Gimeno JR, etal. EORP Cardiomyopathy Registry Investigators. The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies. Eur Heart J 2018; 39:1784-93. 10.1093/eurheartj/ehx819 29378019

10 Cecchi F, Olivotto I, Montereggi A, Santoro G, Dolara A, Maron BJ. Hypertrophic cardiomyopathy in Tuscany: clinical course and outcome in an unselected regional population. J Am Coll Cardiol 1995; 26:1529-36. 10.1016/0735-1097(95)00353-3 7594081

11 Maron BJ, Casey SA, Poliac LC, Gohman TE, Almquist AK, Aeppli DM. Clinical course of hypertrophic cardiomyopathy in a regional United States cohort. JAMA 1999; 281:650-5.10.1001/jama.281.7.650 10029128

12 Association for Inherited Cardiac Conditions. General referral pathway. ttp:// wp-content/uploads/2015/03/General-Referral-pathway.3.pdf.

13 Moak JP, Kaski JP. Hypertrophic cardiomyopathy in children. Heart 2012; 98:1044-54. 10.1136/heartjnl-2011-300531 22591735

14 Elkilany GE, Al-Qbandi MA, Sayed KA, Kabbash I. Dilated cardiomyopathy in children and adults: what is new? Scientific World Journal 2008;8:762-75. 10.1100/tsw.2008.105 18690380

15 Nava A, Bauce B, Basso C, et al. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2000; 36:2226-33.10.1016/S0735-1097(00)00997-9 11127465

16 Maron BJ, Doerer JJ, Haas TS, Tierney DM, Mueller FO. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation

2009;119:1085-92. 10.1161/CIRCULATIONAHA.108.804617 19221222

17 UK National Screening Committee. The UK NSC recommendation on screening to prevent Sudden Cardiac Death in 12 to 39 year olds. 2015.

18 Corrado D, Pelliccia A, Bjørnstad HH, etal. Study Group of Sport Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology Consensus Statement of the Study Group of Sport Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. Cardiovascular

pre-participation screening of young competitive athletes for prevention of sudden death: proposal for a common European protocol. Eur Heart J 2005;26:516-24.

10.1093/eurheartj/ehi108 15689345

19 Corrado D, Basso C, Pavei A, Michieli P, Schiavon M, Thiene G. Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA 2006;296:1593-601.10.1001/jama.296.13.1593 17018804

20 Dhutia H, Malhotra A, Gabus V, etal . Cost implications of using different ECG criteria for screening young athletes in the United Kingdom. J Am Coll Cardiol 2016;68:702-11.10.1016/j.jacc.2016.05.076 27515329

21 Bagnall RD, Weintraub RG, Ingles J, etal. A prospective study of sudden cardiac death among children and young adults. N Engl J Med 2016; 374:2441-52.

10.1056/NEJMoa1510687 27332903

22 Basso C, Aguilera B, Banner J, etal. Association for European Cardiovascular Pathology. Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology. Virchows Arch 2017; 471:691-705. 10.1007/s00428-017-2221-0 28889247

23 de Noronha SV, Behr ER, Papadakis M, et al. The importance of specialist cardiac histopathological examination in the investigation of young sudden cardiac deaths. Europace 2014; 16:899-907. 10.1093/europace/eut329 24148315

24 Galea N, Carbone I, Cannata D, etal . Right ventricular cardiovascular magnetic resonance imaging: normal anatomy and spectrum of pathological findings. Insights Imaging 2013;4:213-23. 10.1007/s13244-013-0222-3 23389464

25 Bejar D, Colombo PC, Latif F, Yuzefpolskaya M. Infiltrative Cardiomyopathies. Clin Med Insights Cardiol 2015;9(Suppl 2):29-38.26244036

26 Lehrke S, Lossnitzer D, Schöb M, etal . Use of cardiovascular magnetic resonance for risk stratification in chronic heart failure: prognostic value of late gadolinium enhancement in patients with non-ischaemic dilated cardiomyopathy. Heart 2011;97:727-32. 10.1136/hrt.2010.205542 21097819

27 Ackerman MJ, Priori SG, Willems S, etal. Heart Rhythm Society (HRS)European Heart Rhythm Association (EHRA). HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 2011;13:1077-109. 10.1093/europace/eur245 21810866

28 Marcus FI, McKenna WJ, Sherrill D, etal . Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 2010;121:1533-41.

29 te Riele ASJM, James CA, Groeneweg JA, etal . Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Eur Heart J 2016;37:755-63.10.1093/eurheartj/ehv387 26314686

30 Michels M, Hoedemaekers YM, Kofflard MJ, etal . Familial screening and geneticcounselling in hypertrophic cardiomyopathy: the Rotterdam experience. Neth Heart J 2007;15:184-90. 10.1007/BF03085978 17612681

31 Sweet M, Taylor MRG, Mestroni L. Diagnosis, prevalence, and screening of familial dilated cardiomyopathy. Expert Opin Orphan Drugs 2015; 3:869-76.

10.1517/21678707.2015.1057498 27547593

32 Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM. Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study. Am J Med Genet A 2009; 149A:602-12. 10.1002/ajmg.a.32710 19253387

33 Aatre RD, Day SM. Psychological issues in genetic testing for inherited cardiovascular diseases. Circ Cardiovasc Genet 2011;4:81-90. 10.1161/CIRCGENETICS.110.957365 21325164

34 Government HM, and the Association of British Insurers. Code on Genetic Testing and Insurance. 2018. uploads/attachment_data/file/751230/code-on-genetic-testing-and-insurance.pdf.

35 Elliott PM, Anastasakis A, Borger MA, etal. Authors/Task Force members. 2014 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; 35:2733-79. 10.1093/eurheartj/ehu284 25173338

36 O'Mahony C, Jichi F, Pavlou M, etal. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD). Eur Heart J 2014; 35:2010-20.

37 Green JJ, Berger JS, Kramer CM, Salerno M. Prognostic value of late gadolinium enhancement in clinical outcomes for hypertrophic cardiomyopathy. JACC Cardiovasc Imaging 2012; 5:370-7. 10.1016/j.jcmg.2011.11.021 22498326

38 Vriesendorp PA, Schinkel AF, Liebregts M, etal . Validation of the 2014 European Society of Cardiology guidelines risk prediction model for the primary prevention of sudden cardiac death in hypertrophic cardiomyopathy. Circ Arrhythm Electrophysiol 2015; 8:829-35. 10.1161/CIRCEP.114.002553 25922410

39 Link MS, Laidlaw D, Polonsky B, etal . Ventricular arrhythmias in the North American multidisciplinary study of ARVC: predictors, characteristics, and treatment. J Am Coll Cardiol 2014;64:119-25. 10.1016/j.jacc.2014.04.035 25011714

40 Corrado D, Leoni L, Link MS, etal . Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 2003; 108:3084-91. 10.1161/01.CIR.0000103130.33451.D2 14638546

41 Corrado D, Wichter T, Link MS, etal . Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia: an international task force consensus statement. Circulation 2015;132:441-53. 10.1161/CIRCULATIONAHA.115.017944 26216213

42 Ponikowski P, Voors AA, Anker SD, etal. Authors/Task Force Members Document Reviewers. 2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: The Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC). Developed with the special contribution of the Heart Failure Association (HFA) of the ESC. Eur J Heart Fail 2016;18:891-975. 10.1002/ejhf.592 27207191

43 Priori SG, Blomström-Lundqvist C. 2015 European Society of Cardiology Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death summarized by co-chairs. Eur Heart J 2015; 36:2757-9. 10.1093/eurheartj/ehv316 26745817

44 Al-Khatib SM, Stevenson WG, Ackerman MJ, etal . 2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Executive summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. Heart Rhythm 2018; 15:e190-252. 10.1016/j.hrthm.2017.10.035 29097320

45 Orgeron GM, James CA, Te Riele A, etal . Implantable cardioverter-defibrillator therapy in arrhythmogenic right ventricular dysplasia/cardiomyopathy: predictors of appropriate therapy, outcomes, and complications. J Am Heart Assoc 2017; 6:e006242. 10.1161/JAHA.117.006242. 28588093

46 Maron BJ, Spirito P, Shen WK, etal . Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA 2007;298: 405-12. 10.1001/jama.298.4.405 17652294

47 Vriesendorp PA, Schinkel AF, Van Cleemput J, etal . Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: patient outcomes, rate of appropriate and inappropriate interventions, and complications. Am Heart J 2013;166:496-502. 10.1016/j.ahj.2013.06.009 24016499

48 Køber L, Thune JJ, Nielsen JC, etal. DANISH Investigators. Defibrillator implantation in patients with nonischemic systolic heart failure. N Engl J Med 2016;375:1221-30. 10.1056/NEJMoa1608029 27571011

49 Colquitt JL, Mendes D, Clegg AJ, etal . Implantable cardioverter defibrillators for the treatment of arrhythmias and cardiac resynchronisation therapy for the treatment of heart failure: systematic review and economic evaluation. Health Technol Assess 2014; 18:1-560. 10.3310/hta18560 25169727

50 Hofer D, Steffel J, Hürlimann D, etal . Long-term incidence of inappropriate shocks in patients with implantable cardioverter defibrillators in clinical practice-an underestimated complication?J Interv Card Electrophysiol 2017;50:219-26. 10.1007/s10840-017-0297-8 29177981

51 Olde Nordkamp LR, Postema PG, Knops RE, etal . Implantable cardioverter-defibrillator harm in young patients with inherited arrhythmia syndromes: A systematic review and meta-analysis of inappropriate shocks and complications. Heart Rhythm 2016;13:443-54. 10.1016/j.hrthm.2015.09.010 26385533

52 Real J, Cowles E, Wierzbicki ASGuideline Committee. Chronic heart failure in adults: summary of updated NICE guidance. BMJ 2018;362:k3646. 10.1136/bmj.k3646 30249604

53 D’Silva A, Sharma S. Management of young competitive athletes with cardiovascular conditions. Heart 2017; 103:463-73. 10.1136/heartjnl-2016-309435 27888210

54 Pelliccia A, Solberg EE, Papadakis M, etal . Recommendations for participation in competitive and leisure time sport in athletes with cardiomyopathies, myocarditis, and pericarditis: position statement of the Sport Cardiology Section of the European Association of Preventive Cardiology (EAPC). Eur Heart J 2019;40:19-33.10.1093/eurheartj/ehy730 30561613

55 Maron BJ, Udelson JE, Bonow RO, etal. American Heart Association Electrocardiography and Arrhythmias Committee of Council on Clinical Cardiology, Council on Cardiovascular Disease in Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and American College of Cardiology. Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 3: hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and other cardiomyopathies, and myocarditis. Circulation 2015;132:e273-80. 10.1161/CIR.0000000000000239 26621644

56 Flamm MD, Harrison DC, Hancock EW. Muscular subaortic stenosis. Prevention of outflow obstruction with propranolol. Circulation 1968; 38:846-58.

10.1161/01.CIR.38.5.846 4177137

57 Stenson RE, Flamm MDJr, Harrison DC, Hancock EW. Hypertrophic subaortic stenosis. Clinical and hemodynamic effects of long-term propranolol therapy. Am J Cardiol 1973;31:763-73. 10.1016/0002-9149(73)90012-X 4735938

58 Adelman AG, Shah PM, Gramiak R, Wigle ED. Long-term propranolol therapy in muscular subaortic stenosis. Br Heart J 1970;32:804-11. 10.1136/hrt.32.6.804 5212354

59 Liu Q, Li D, Berger AE, Johns RA, Gao L. Survival and prognostic factors in hypertrophic cardiomyopathy: a meta-analysis. Sci Rep 2017; 7:11957.

10.1038/s41598-017-12289-4 28931939

60 Groeneweg JA, Bhonsale A, James CA, etal . Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members. Circ Cardiovasc Genet 2015; 8:437-46.

10.1161/CIRCGENETICS.114.001003 25820315

61 Michels VV, Driscoll DJ, Miller FA, et al . Progression of familial and non-familial dilated

cardiomyopathy: long term follow up. Heart 2003; 89:757-61.

10.1136/heart.89.7.757 12807850

62 Castelli G, Fornaro A, Ciaccheri M, etal . Improving survival rates of patients with idiopathic dilated cardiomyopathy in Tuscany over 3 decades: impact of evidence-based management. Circ Heart Fail 2013;6:913-21. 10.1161/CIRCHEARTFAILURE.112.000120 23888044

63 Kubo T, Matsumura Y, Kitaoka H, etal . Improvement in prognosis of dilated cardiomyopathy in the elderly over the past 20 years. J Cardiol 2008;52:111-7. 10.1016/j.jjcc.2008.06.001 18922384

64 Baig MK, Goldman JH, Caforio AL, Coonar AS, Keeling PJ, McKennaWJ. Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 1998; 31:195-201.10.1016/S0735-1097(97)00433-6 9426040



Usted debe ingresar al sitio con su cuenta de usuario IntraMed para ver los comentarios de sus colegas o para expresar su opinión. Si ya tiene una cuenta IntraMed o desea registrase, ingrese aquí