Recomendações para a realização de testes genéticos em cardiologia – revisão das principais diretrizes internacionais

Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med., 17, 405, 10.1038/gim.2015.30 Ackerman, 2011, 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., 13, 1077, 10.1093/europace/eur245 Al-Khatib, 2018, Heart Rhythm., 15, e73, 10.1016/j.hrthm.2017.10.036 Maron, 2006, Circulation, 113, 1807, 10.1161/CIRCULATIONAHA.106.174287 Sieira, 2017, The definition of the Brugada syndrome, Eur Heart J., 38, 3029, 10.1093/eurheartj/ehx490 Cerrone, 2011, Genetics of sudden death: focus on inherited channelopathies, Eur Heart J., 32, 2109, 10.1093/eurheartj/ehr082 Antzelevitch, 2010, J wave syndromes, Heart Rhythm., 7, 549, 10.1016/j.hrthm.2009.12.006 Antzelevitch, 2017, J‐Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge, Europace., 19, 665 Priori, 2015, [2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death], Kardiol Pol., 73, 795, 10.5603/KP.2015.0190 Priori, 2013, HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF AHA, PACES, and AEPC in June 2013, Heart Rhythm., 10, 1932, 10.1016/j.hrthm.2013.05.014 Macfarlane, 2015, The Early Repolarization Pattern: A Consensus Paper, J Am Coll Cardiol., 66, 470, 10.1016/j.jacc.2015.05.033 Schwartz, 2011, QTc behavior during exercise and genetic testing for the long‐QT syndrome, Circulation., 124, 2181, 10.1161/CIRCULATIONAHA.111.062182 Giudicessi, 2013, Genotype‐ and phenotype‐guided management of congenital long QT syndrome, Curr Probl Cardiol., 38, 417, 10.1016/j.cpcardiol.2013.08.001 Priori, 2003, Risk stratification in the long‐QT syndrome, N Engl J Med., 348, 1866, 10.1056/NEJMoa022147 Schwartz, 2013, Impact of genetics on the clinical management of channelopathies, J Am Coll Cardiol., 62, 169, 10.1016/j.jacc.2013.04.044 Goldenberg, 2011, Risk for life‐threatening cardiac events in patients with genotype‐confirmed long‐QT syndrome and normal‐range corrected QT intervals, J Am Coll Cardiol., 57, 51, 10.1016/j.jacc.2010.07.038 Alders M, Bikker H, Christiaans I. Long QT Syndrome. 2003 Feb 20 [Updated 2018 Feb 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993‐2019. Disponível em: https://www.ncbi.nlm.nih.gov/books/NBK1129. Tranebjaerg L, Samson RA, Green GE. Jervell and Lange‐Nielson Syndrome. 2002 Jul 29 [Updated 2017 Aug 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993‐2019. Disponível em: https://www.ncbi.nlm.nih.gov/books/NBK1405/. Napolitano C, Splawski I, Timothy KW, et al. Timothy Syndrome. 2006 Feb 15 [Updated 2015 Jul 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993‐2019. Disponível em: https://www.ncbi.nlm.nih.gov/books/NBK1403/. Veerapandiyan A, Statland JM, Tawil R. Andersen‐Tawil Syndrome. 2004 Nov 22 [Updated 2018 Jun 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993‐2019. Disponível em: https://www.ncbi.nlm.nih.gov/books/NBK1264/. Priori, 2002, Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia, Circulation., 106, 69, 10.1161/01.CIR.0000020013.73106.D8 Elliott, 2008, Eur Heart J., 29, 270, 10.1093/eurheartj/ehm342 Hershberger, 2018, Genetic Evaluation of Cardiomyopathy‐A Heart Failure Society of America Practice Guideline, J Card Fail., 24, 281, 10.1016/j.cardfail.2018.03.004 Pinto, 2016, Eur Heart J., 37, 1850, 10.1093/eurheartj/ehv727 Authors/Task Force members, 2014, 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., 35, 2733, 10.1093/eurheartj/ehu284 Gersh, 2011, 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., 58, e212, 10.1016/j.jacc.2011.06.011 Maron, 2019, Moving Beyond the Sarcomere to Explain Heterogeneity in Hypertrophic Cardiomyopathy: JACC Review Topic of the Week, J Am Coll Cardiol., 73, 1978, 10.1016/j.jacc.2019.01.061 Ko, 2018, Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup, Genet Med., 20, 69, 10.1038/gim.2017.79 Burke, 2016, Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy, J Am Coll Cardiol., 68, 2871, 10.1016/j.jacc.2016.08.079 Mestroni, 1999, Guidelines for the study of familial dilated cardiomyopathies Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy, Eur Heart J., 20, 93, 10.1053/euhj.1998.1145 Bozkurt, 2016, Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association, Circulation., 134, e579, 10.1161/CIR.0000000000000455 Marcus, 2010, Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria, Eur Heart J., 31, 806, 10.1093/eurheartj/ehq025 Corrado, 2017, Arrhythmogenic Right Ventricular Cardiomyopathy, N Engl J Med., 376, 61, 10.1056/NEJMra1509267 Basso, 2018, Diagnostic Criteria Genetics, and Molecular Basis of Arrhythmogenic Cardiomyopathy, Heart Fail Clin., 14, 201, 10.1016/j.hfc.2018.01.002 Bhonsale, 2015, Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy‐associated mutation carriers, Eur Heart J., 36, 847, 10.1093/eurheartj/ehu509 Arbustini, 2014, Left ventricular noncompaction: a distinct cardiomyopathy or a trait shared by different cardiac diseases?, J Am Coll Cardiol., 64, 1840, 10.1016/j.jacc.2014.08.030 Oechslin, 2011, Left ventricular non‐compaction revisited: a distinct phenotype with genetic heterogeneity?, Eur Heart J., 32, 1446, 10.1093/eurheartj/ehq508 Jenni, 2001, Echocardiographic and pathoanatomical characteristics of isolated left ventricular non‐compaction: a step towards classification as a distinct cardiomyopathy, Heart., 86, 666, 10.1136/heart.86.6.666 Chin, 1990, Isolated noncompaction of left ventricular myocardium. A study of eight cases, Circulation., 82, 507, 10.1161/01.CIR.82.2.507 Stollberger, 2002, Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders, Am J Cardiol., 90, 899, 10.1016/S0002-9149(02)02723-6 Stollberger, 2013, Refinement of echocardiographic criteria for left ventricular noncompaction, Int J Cardiol., 165, 463, 10.1016/j.ijcard.2011.08.845 Petersen, 2005, Left ventricular non‐compaction: insights from cardiovascular magnetic resonance imaging, J Am Coll Cardiol., 46, 101, 10.1016/j.jacc.2005.03.045 Jacquier, 2010, Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non‐compaction, Eur Heart J., 31, 1098, 10.1093/eurheartj/ehp595 Gebhard, 2012, Reduced left ventricular compacta thickness: a novel echocardiographic criterion for non‐compaction cardiomyopathy, J Am Soc Echocardiogr., 25, 1050, 10.1016/j.echo.2012.07.003 Captur, 2013, Quantification of left ventricular trabeculae using fractal analysis, J Cardiovasc Magn Reson., 15, 36, 10.1186/1532-429X-15-36 Garcia-Pavia, 2014, Left ventricular noncompaction: a genetic cardiomyopathy looking for diagnostic criteria, J Am Coll Cardiol., 64, 1981, 10.1016/j.jacc.2014.08.034 Verstraeten, 2017, Aetiology and management of hereditary aortopathy, Nat Rev Cardiol., 14, 197, 10.1038/nrcardio.2016.211 Mulder BJM, van de Laar IMBH, de Backer J. Heritable Thoracic Aortic Disorders. Em: Baars HF, Doevendans PAFM, Houweling AC, Tintelen JP, editors. Clinical Cardiogenetics. 2ªed. Suiça: Springer 2016. P263‐94. Erbel, 2014, Eur Heart J., 35, 2873, 10.1093/eurheartj/ehu281 Nordestgaard, 2013, Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society, Eur Heart J., 34, 3478, 10.1093/eurheartj/eht273 Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ. 1991;303(6807):893‐6. Defesche, 2004, Advanced method for the identification of patients with inherited hypercholesterolemia, Semin Vasc Med., 4, 59, 10.1055/s-2004-822987 Sturm, 2018, Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel, J Am Coll Cardiol., 72, 662, 10.1016/j.jacc.2018.05.044 NICE NCC for PC. Identification and Management of Familial Hypercholesterolaemia NICE Clinical Guideline 71. London: National Institute for Health and Clinical Excellence. P45. 2008 van der Linde, 2011, Birth prevalence of congenital heart disease worldwide: a systematic review and meta‐analysis, J Am Coll Cardiol., 58, 2241, 10.1016/j.jacc.2011.08.025 Marelli, 2014, Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010, Circulation., 130, 749, 10.1161/CIRCULATIONAHA.113.008396 Simonneau, 2019, Haemodynamic definitions and updated clinical classification of pulmonary hypertension, Eur Respir J., 53 Morrell, 2019, Genetics and genomics of pulmonary arterial hypertension, Eur Respir J., 53 Soubrier, 2013, Genetics and genomics of pulmonary arterial hypertension, J Am Coll Cardiol., 62, D13, 10.1016/j.jacc.2013.10.035 Larkin, 2012, Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension, Am J Respir Crit Care Med., 186, 892, 10.1164/rccm.201205-0886OC Eyries, 2014, EIF2AK4 mutations cause pulmonary veno‐occlusive disease, a recessive form of pulmonary hypertension, Nat Genet., 46, 65, 10.1038/ng.2844 Galie, 2013, The Fifth World Symposium on Pulmonary Hypertension, J Am Coll Cardiol., 62, D1, 10.1016/j.jacc.2013.10.030 Frydman, 2012, Pre‐implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation, Eur Respir J., 39, 1534, 10.1183/09031936.00185011 Vos, 2018, Cardiovascular causes of sudden unexpected death in children and adolescents (0‐17 years): A nationwide autopsy study in the Netherlands, Neth Heart J., 26, 500, 10.1007/s12471-018-1152-y Semsarian, 2015, Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives, Eur Heart J., 36, 1290, 10.1093/eurheartj/ehv063 Tester, 2018, Cardiac Genetic Predisposition in Sudden Infant Death Syndrome, J Am Coll Cardiol., 71, 1217, 10.1016/j.jacc.2018.01.030 de Vreede-Swagemakers, 1997, Out‐of‐hospital cardiac arrest in the 1990's: a population‐based study in the Maastricht area on incidence, characteristics and survival, J Am Coll Cardiol., 30, 1500, 10.1016/S0735-1097(97)00355-0 Hayashi, 2015, The spectrum of epidemiology underlying sudden cardiac death, Circ Res., 116, 1887, 10.1161/CIRCRESAHA.116.304521 Wong, 2019, Epidemiology of Sudden Cardiac Death: Global and Regional Perspectives, Heart Lung Circ., 28, 6, 10.1016/j.hlc.2018.08.026 Ribeiro, 2019, Post mortem genetic test, the clinical diagnosis is not fade with the death of the patient, Rev Port Cardiol., 38, 503, 10.1016/j.repc.2018.12.004 Zipes, 1998, Sudden cardiac death, Circulation., 98, 2334, 10.1161/01.CIR.98.21.2334 Lahrouchi, 2017, Utility of Post‐Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome, J Am Coll Cardiol., 69, 2134, 10.1016/j.jacc.2017.02.046 Basso, 2017, Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology, Virchows Arch., 471, 691, 10.1007/s00428-017-2221-0 Michaud, 2009, Swiss Med Wkly., 139, 712 Semsarian, 2016, Molecular autopsy in victims of inherited arrhythmias, J Arrhythm., 32, 359, 10.1016/j.joa.2015.09.010 Sarquella-Brugada, 2016, Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?, Int J Legal Med., 130, 415, 10.1007/s00414-016-1330-7 van der Werf, 2014, Low rate of cardiac events in first‐degree relatives of diagnosis‐negative young sudden unexplained death syndrome victims during follow‐up, Heart Rhythm., 11, 1728, 10.1016/j.hrthm.2014.05.028 Rapezzi, 2013, Eur Heart J., 34, 1448, 10.1093/eurheartj/ehs397 Charron, 2010, Eur Heart J., 31, 2715, 10.1093/eurheartj/ehq271 Loeys, 2010, The revised Ghent nosology for the Marfan syndrome, J Med Genet., 47, 476, 10.1136/jmg.2009.072785 Baumgartner, 2010, ESC Guidelines for the management of grown‐up congenital heart disease (new version 2010), Eur Heart J., 31, 2915, 10.1093/eurheartj/ehq249 Warnes, 2008, J Am Coll Cardiol., 52, e143, 10.1016/j.jacc.2008.10.001 Stout, 2018, 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines, J Am Coll Cardiol. Goodship J, Wren C. Congenital cardiovascular malformations. Kumar D, Elliott P, editors. Principles and Practice of Clinical Cardiovascular Genetics. 7ª ed. Nova Iorque: Oxford 2010. P130‐50. Pierpont, 2018, Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association, Circulation., 138, e653, 10.1161/CIR.0000000000000606 Roberts, 2013, Noonan syndrome, Lancet., 381, 333, 10.1016/S0140-6736(12)61023-X Hinton, 2007, Hypoplastic left heart syndrome is heritable, J Am Coll Cardiol., 50, 1590, 10.1016/j.jacc.2007.07.021 Cowan, 2015, Genetics and genetic testing in congenital heart disease, Clin Perinatol., 42, 373, 10.1016/j.clp.2015.02.009 Nora, 1991, 53