中国儿童肥厚型心肌病诊断的专家共识
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摘要
<正>肥厚型心肌病(hypertrophic cardiomyopathy,HCM)是儿童及青壮年心脏性猝死(sudden cardiacdeath,SCD)的最重要原因之一~([1-2])。成人HCM的发病率为1/500~([3]),但儿童发病率尚不明确,估计年新发病率为(0.3～0.5)/100 000~([4-5])。2016年中华医学会儿科学分会心血管学组儿童心肌病精准诊治协作组回顾性调查了国内16家医院2006—2016年10年间的1823例心肌病住院患儿,其中HCM占9.4%(不包
引文
[1]Maron BJ,Gardin JM,Flack JM,et al.Prevalence of hypertrophic cardiomyopathy in a generalpopulation of young adults.Echocardiographic analysis of 4111 subjects in the CARDIA Study.Coronary artery risk development in(young)adults[J].Circulation,1995,92(4):785-789.
[2]Ullal AJ,Abdelfattah RS,Ashley EA,et al.Hypertrophic cardiomyopathy as a cause of sudden cardiac deathin the young:a meta-analysis[J].Am J Med,2016,129(5):486-496.
[3]Sen-Chowdhry S,Jacoby D,Moon JC,et al.Update on hypertrophic cardiomyopathy and a guide to the guidelines[J].Nat Rev Cardiol,2016,13(11):651-675.
[4]Lipshultz SE,Sleeper LA,Towbin JA,et al.The incidence of pediatric cardiomyopathy in two regions of the United States[J].N Engl J Med,2003,348(17):1647-1655.
[5]Nugent AW,Daubeney PE,Chondros P,et al.Clinical features and outcomes of childhood hypertrophic cardiomyopathy:results from a national population-based study[J].Circulation,2005,112(9):1332-1338.
[6]O’Mahony C,Tome-Esteban M,Lambiase PD,et al.A validation study of the 2003 American College of Cardiology European Society of Cardiology and 2011 American College of Cardiology Foundation American Heart Association risk stratification and treatment algorithms for sudden cardiac death in patients with hypertrophic cardiomyopathy[J].Heart,2013,99(8):534-541.
[7]Gersh BJ,Maron BJ,Bonow RO,et al.2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy:executive summary:a report of the American College of Cardiology Foundation American Heart Association Task Force on Practice Guidelines[J].Circulation,2011,124(24):2761-2796.
[8]Elliott PM,Anastasakis A,Borger MA,et al.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)[J].Eur Heart J,2014,35(39):2733-2779.
[9]中华医学会儿科学分会心血管学组,《中华儿科杂志》编辑委员会.儿童心肌病遗传代谢性病因的诊断建议[J].中华儿科杂志,2013,51(5):385-388.
[10]中华医学会儿科学分会心血管学组,《中华儿科杂志》编辑委员会.儿童心肌病基因检测建议[J].中华儿科杂志,2013,51(8):595-597.
[11]马沛然,汪翼.小儿心肌病分类的建议和说明[J].中华儿科杂志,2012,50(6):472-473.
[12]中华医学会心血管病学分会中国成人肥厚型心肌病诊断与治疗指南编写组,《中华心血管病杂志》编辑委员会.中国成人肥厚型心肌病诊断与治疗指南[J].中华心血管病杂志,2017,45(12):1015-1032.
[13]Moak JP,Kaski JP.Hypertrophic cardiomyopathy in children[J].Heart,2012 98(14):1044-1054.
[14]Rupp S,Felimban M,Sch?nzer A,et al.Genetic basis of hypertrophic cardiomyopathy in children[J].Clin Res Cardiol,2019,108(3):282-289.
[15]Cirino AL,Ho C.Hypertrophic cardiomyopathy overview[EB/OL]//Adam MP,Ardinger HH,Pagon RA,et al.GeneReviews?[Internet].Seattle(WA):University of Washington,Seattle.(2014-01-16)https://www.ncbi.nlm.nih.gov/books/NBK1768/.
[16]Marian AJ,Salek L,Lutucuta S.Molecular genetics and pathogenesis of hypertrophic cardiomyopathy[J].Minerva Med,2001,92(6):435-451.
[17]Ingles J,Sarina T,Yeates L,et al.Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy[J].Genet Med,2013,15(12):972-977.
[18]Li MM,Datto M,Duncavage EJ,et al.Standards and guidelines for the interpretation and reporting of sequence variants in cancer:A joint consensus recommendation of the Association for Molecular Pathology,American Society of Clinical Oncology,and College of American Pathologists[J].J Mol Diagnostics,2017,19(1):4-23.
[19]Kelly MA,Caleshu C,Morales A,et al.Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inheritedcardiomyopathies:Recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel[J].Genet Med,2018,20(3):351-359.
[2]Ullal AJ,Abdelfattah RS,Ashley EA,et al.Hypertrophic cardiomyopathy as a cause of sudden cardiac deathin the young:a meta-analysis[J].Am J Med,2016,129(5):486-496.
[3]Sen-Chowdhry S,Jacoby D,Moon JC,et al.Update on hypertrophic cardiomyopathy and a guide to the guidelines[J].Nat Rev Cardiol,2016,13(11):651-675.
[4]Lipshultz SE,Sleeper LA,Towbin JA,et al.The incidence of pediatric cardiomyopathy in two regions of the United States[J].N Engl J Med,2003,348(17):1647-1655.
[5]Nugent AW,Daubeney PE,Chondros P,et al.Clinical features and outcomes of childhood hypertrophic cardiomyopathy:results from a national population-based study[J].Circulation,2005,112(9):1332-1338.
[6]O’Mahony C,Tome-Esteban M,Lambiase PD,et al.A validation study of the 2003 American College of Cardiology European Society of Cardiology and 2011 American College of Cardiology Foundation American Heart Association risk stratification and treatment algorithms for sudden cardiac death in patients with hypertrophic cardiomyopathy[J].Heart,2013,99(8):534-541.
[7]Gersh BJ,Maron BJ,Bonow RO,et al.2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy:executive summary:a report of the American College of Cardiology Foundation American Heart Association Task Force on Practice Guidelines[J].Circulation,2011,124(24):2761-2796.
[8]Elliott PM,Anastasakis A,Borger MA,et al.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)[J].Eur Heart J,2014,35(39):2733-2779.
[9]中华医学会儿科学分会心血管学组,《中华儿科杂志》编辑委员会.儿童心肌病遗传代谢性病因的诊断建议[J].中华儿科杂志,2013,51(5):385-388.
[10]中华医学会儿科学分会心血管学组,《中华儿科杂志》编辑委员会.儿童心肌病基因检测建议[J].中华儿科杂志,2013,51(8):595-597.
[11]马沛然,汪翼.小儿心肌病分类的建议和说明[J].中华儿科杂志,2012,50(6):472-473.
[12]中华医学会心血管病学分会中国成人肥厚型心肌病诊断与治疗指南编写组,《中华心血管病杂志》编辑委员会.中国成人肥厚型心肌病诊断与治疗指南[J].中华心血管病杂志,2017,45(12):1015-1032.
[13]Moak JP,Kaski JP.Hypertrophic cardiomyopathy in children[J].Heart,2012 98(14):1044-1054.
[14]Rupp S,Felimban M,Sch?nzer A,et al.Genetic basis of hypertrophic cardiomyopathy in children[J].Clin Res Cardiol,2019,108(3):282-289.
[15]Cirino AL,Ho C.Hypertrophic cardiomyopathy overview[EB/OL]//Adam MP,Ardinger HH,Pagon RA,et al.GeneReviews?[Internet].Seattle(WA):University of Washington,Seattle.(2014-01-16)https://www.ncbi.nlm.nih.gov/books/NBK1768/.
[16]Marian AJ,Salek L,Lutucuta S.Molecular genetics and pathogenesis of hypertrophic cardiomyopathy[J].Minerva Med,2001,92(6):435-451.
[17]Ingles J,Sarina T,Yeates L,et al.Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy[J].Genet Med,2013,15(12):972-977.
[18]Li MM,Datto M,Duncavage EJ,et al.Standards and guidelines for the interpretation and reporting of sequence variants in cancer:A joint consensus recommendation of the Association for Molecular Pathology,American Society of Clinical Oncology,and College of American Pathologists[J].J Mol Diagnostics,2017,19(1):4-23.
[19]Kelly MA,Caleshu C,Morales A,et al.Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inheritedcardiomyopathies:Recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel[J].Genet Med,2018,20(3):351-359.