儿童肥厚型心肌病的超声学检查
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摘要
经胸超声心动图(transthoracic echocardiography,TTE)在肥厚型心肌病(hypertrophic cardiomyopathy,HCM)患儿的诊断及病情评估中起着至关重要的作用,是目前国际公认的HCM首选检查方法。对于所有考虑可能患有HCM的患儿均应进行全面的TTE评估。诊断儿童HCM,需符合左心室任何节段或多个节段室壁的心肌厚度大于预测平均值加两个标准差,并排除引起心脏负荷增加的其他疾病,如高血压、瓣膜病或主动脉疾病等。在检查中除了对肥厚心室壁厚度的测量,同时还应注重描述心肌形态、心肌回声强度、均匀性,以及流出道有无梗阻。还需评估心室大小、整体收缩以及舒张功能,并应用多种先进技术评价心肌功能,以便充分评估病情或做出鉴别诊断。此外,超声心动图在肥厚型心肌病的治疗中也有着广泛的应用前景。
The transthoracic echocardiography(TTE)plays a critical role in the diagnosis and evaluation of pediatric hypertrophic cardiomyopathy(HCM),and is currently recognized as the first choice in investigation of HCM. Comprehensive TTE is recommended in all children suspected with HCM. To meet the criteria of diagnosis of HCM,the left ventricular wall thickness at any or more segments of left ventricular myocardium should be greater than the predicted mean plus two standard deviations. In the meanwhile,other diseases,such as hypertension,valvular diseases and aortic diseases,which could contribute to increased cardiac load,should be excluded. Besides the measurement of the thickness of the hypertrophic ventricular wall,we should also pay attention to the description of myocardial morphology,myocardial echo intensity,uniformity,and outflow tract obstruction. It is also necessary to assess ventricular size and general systolic and diastolic function,and apply advanced techniques to evaluate myocardial function in order to fully assess the state of the disease or to make differential diagnosis. In addition,echocardiography also has a wide range of application prospects in the treatment of HCM.
The transthoracic echocardiography(TTE)plays a critical role in the diagnosis and evaluation of pediatric hypertrophic cardiomyopathy(HCM),and is currently recognized as the first choice in investigation of HCM. Comprehensive TTE is recommended in all children suspected with HCM. To meet the criteria of diagnosis of HCM,the left ventricular wall thickness at any or more segments of left ventricular myocardium should be greater than the predicted mean plus two standard deviations. In the meanwhile,other diseases,such as hypertension,valvular diseases and aortic diseases,which could contribute to increased cardiac load,should be excluded. Besides the measurement of the thickness of the hypertrophic ventricular wall,we should also pay attention to the description of myocardial morphology,myocardial echo intensity,uniformity,and outflow tract obstruction. It is also necessary to assess ventricular size and general systolic and diastolic function,and apply advanced techniques to evaluate myocardial function in order to fully assess the state of the disease or to make differential diagnosis. In addition,echocardiography also has a wide range of application prospects in the treatment of HCM.
引文
[1]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.
[2]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,2017,12(45):1015-1032.
[3]Semsarian C,Ingles J,Maron MS,et al.New perspectives on the prevalence of hypertrophic cardiomyopathy[J].J Am Coll Cardiol,2015,65(12):1249-1254.
[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.Clinical features and outcomes of childhood hypertrophic cardiomyopathy:results from a national population-based study[J].Circulation,2005,112(9):1332-1338.
[6]Charron P,Dubourg O,Desnos M,et al.Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population[J].Circulation,1997,96(1):214-219.
[7]Binder J,Ommen SR,Gersh BJ,et al.Echocardiography-guided genetic testing in hypertrophic cardiomyopathy:septal morphological features predict the presence of myofilament mutations[J].Mayo Clinic Proc,2006,81(4):459-467.
[8]Bharucha T,Lee KJ,Daubeney PEF,et al.Sudden death in childhood cardiomyopathy:results from a long-term national population-based study[J].J Am Coll Cardiol,2015,65(21):2302-2310.
[9]Decker JA,Rossano JW,Smith EOB,et al.Risk factors and mode of death in isolated hypertrophic cardiomyopathy in children[J].J Am Coll Cardiol,2009,54(3):250-254.
[10]Windram JD,Dragelescu A,Benson L,et al.Myocardial dimensions in children with hypertrophic cardiomyopathy:a comparison between echocardiography and cardiac magnetic resonance imaging[J].Can J Cardiol,2016,32(12):1507-1512.
[11]Shah JS,Esteban MTT,Thaman R,et al.Prevalence of exercise-induced left ventricular outflow tract obstruction in symptomatic patients with non-obstructive hypertrophic cardiomyopathy[J].Heart,2008,94(10):1288-1294.
[12]Veselka J,Anavekar NS,Charron P.Hypertrophic obstructive cardiomyopathy[J].Lancet,2017,389(10075):1253-1267.
[13]Kwon DH,Setser RM,Thamilarasan M,et al.Abnormal papillary muscle morphology is independently associated with increased left ventricular outflow tract obstruction in hypertrophic cardiomyopathy[J].Heart,94(10),1295-1301.
[14]Sherrid MV,Balaram S,Kim B,et al.The mitral valve in obstructive hypertrophic cardiomyopathy:a test in context[J].JAm Coll Cardiol,2016,67(15):1846-1858.
[15]Eric HC,Omran AS,Wigle ED,et al.Mitral regurgitation in hypertrophic obstructive cardiomyopathy:relationship to obstruction and relief with myectomy[J].J Am Coll Cardiol,2000,36(7):2219-2225.
[16]O’mahony C,Jichi F,Pavlou M,et al.A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy(HCM risk-SCD)[J].Eur Heart J,2013,35(30):2010-2020.
[17]Dimitrow PP,Bober M,Micha?owska J,et al.Left ventricular outflow tract gradient provoked by upright position or exercise in treated patients with hypertrophic cardiomyopathy without obstruction at rest[J].Echocardiography,2009,26(5):513-520.
[18]Ciliberti P,McLeod I,Cairello F,et al.Semi-supine exercise stress echocardiography in children and adolescents:feasibility and safety[J].Pediatr Cardiol,2015,36(3):633-639.
[19]Wilke L,Schneyder FEA,Roskopf M,et al.Speckle tracking stress echocardiography in children:interobserver and intraobserver reproducibility and the impact of echocardiographic image quality[J].Sci Rep,2018,8(1):9185.
[20]Urbano-Moral JA,Rowin EJ,Maron MS,et al.Investigation of global and regional myocardial mechanics with 3D speckle tracking echocardiography and relations to hypertrophy and fibrosis in hypertrophic cardiomyopathy[J].Circ Cardiovasc Imaging,2014,7(1):11-19.
[21]Lipshultz SE,Orav EJ,Wilkinson JD,et al.Risk stratification at diagnosis for children with hypertrophic cardiomyopathy:an analysis of data from the Pediatric Cardiomyopathy Registry[J].Lancet,2013,382(9908):1889-1897.
[22]Biagini E,Spirito P,Rocchi G,et al.Prognostic implications of the Doppler restrictive filling pattern in hypertrophic cardiomyopathy[J].Am J Cardiol,2009,104(12):1727-1731.
[23]Mitter SS,Shah SJ,Thomas JD.A test in context:E/A and E/e’to assess diastolic dysfunction and LV filling pressure[J].J Am Coll Cardiol,2017,69(11):1451-1464.
[24]Kitaoka H,Kubo T,Okawa M,et al.Tissue doppler imaging and plasma BNP levels to assess the prognosis in patients with hypertrophic cardiomyopathy[J].J Am Soc Echocardiogr,2011,24(9):1020-1025.
[25]Guttmann OP,Rahman MS,O’mahony C,et al.Atrial fibrillation and thromboembolism in patients with hypertrophic cardiomyopathy:systematic review[J].Heart,2014,100(6):465-472.
[26]Tani T,Yagi T,Kitai T,et al.Left atrial volume predicts adverse cardiac and cerebrovascular events in patients with hypertrophic cardiomyopathy[J].Cardiovasc Ultrasound,2011,9(1):34.
[27]Morita H,Rehm HL,Menesses A,et al.Shared genetic causes of cardiac hypertrophy in children and adults[J].N Engl J Med,2008,358(18):1899-1908.
[28]Kassem HSh,Azer RS,Saber-Ayad M,et al.Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program[J].J Cardiovasc Transl Res,2013,6(1):65-80.
[29]Colan SD,Lipshultz SE,Lowe AM,et al.Epidemiology and causespecific outcome of hypertrophic cardiomyopathy in children:findings from the Pediatric Cardiomyopathy Registry[J].Circulation,2007,115(6):773-781.
[30]Rapezzi C,Arbustini E,Caforio ALP,et al.Diagnostic workup in cardiomyopathies:bridging the gap between clinical phenotypes and final diagnosis.A position statement from the ESCWorking Group on Myocardial and Pericardial Diseases[J].Eur Heart J,2012,34(19):1448-1458.
[31]Flachskampf FA,Wouters PF,Edvardsen T,et al.Recommendations for transoesophageal echocardiography:EACVI update2014[J].Eur Heart J Cardiovasc Imaging,2014,15(4):353-365.
[32]Liu L,Li J,Zuo L,et al.Percutaneous intramyocardial septal radiofrequency ablation for hypertrophic obstructive cardiomyopathy[J].J Am Coll Cardiol,2018,72(16):1898-1909.
[2]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,2017,12(45):1015-1032.
[3]Semsarian C,Ingles J,Maron MS,et al.New perspectives on the prevalence of hypertrophic cardiomyopathy[J].J Am Coll Cardiol,2015,65(12):1249-1254.
[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.Clinical features and outcomes of childhood hypertrophic cardiomyopathy:results from a national population-based study[J].Circulation,2005,112(9):1332-1338.
[6]Charron P,Dubourg O,Desnos M,et al.Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population[J].Circulation,1997,96(1):214-219.
[7]Binder J,Ommen SR,Gersh BJ,et al.Echocardiography-guided genetic testing in hypertrophic cardiomyopathy:septal morphological features predict the presence of myofilament mutations[J].Mayo Clinic Proc,2006,81(4):459-467.
[8]Bharucha T,Lee KJ,Daubeney PEF,et al.Sudden death in childhood cardiomyopathy:results from a long-term national population-based study[J].J Am Coll Cardiol,2015,65(21):2302-2310.
[9]Decker JA,Rossano JW,Smith EOB,et al.Risk factors and mode of death in isolated hypertrophic cardiomyopathy in children[J].J Am Coll Cardiol,2009,54(3):250-254.
[10]Windram JD,Dragelescu A,Benson L,et al.Myocardial dimensions in children with hypertrophic cardiomyopathy:a comparison between echocardiography and cardiac magnetic resonance imaging[J].Can J Cardiol,2016,32(12):1507-1512.
[11]Shah JS,Esteban MTT,Thaman R,et al.Prevalence of exercise-induced left ventricular outflow tract obstruction in symptomatic patients with non-obstructive hypertrophic cardiomyopathy[J].Heart,2008,94(10):1288-1294.
[12]Veselka J,Anavekar NS,Charron P.Hypertrophic obstructive cardiomyopathy[J].Lancet,2017,389(10075):1253-1267.
[13]Kwon DH,Setser RM,Thamilarasan M,et al.Abnormal papillary muscle morphology is independently associated with increased left ventricular outflow tract obstruction in hypertrophic cardiomyopathy[J].Heart,94(10),1295-1301.
[14]Sherrid MV,Balaram S,Kim B,et al.The mitral valve in obstructive hypertrophic cardiomyopathy:a test in context[J].JAm Coll Cardiol,2016,67(15):1846-1858.
[15]Eric HC,Omran AS,Wigle ED,et al.Mitral regurgitation in hypertrophic obstructive cardiomyopathy:relationship to obstruction and relief with myectomy[J].J Am Coll Cardiol,2000,36(7):2219-2225.
[16]O’mahony C,Jichi F,Pavlou M,et al.A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy(HCM risk-SCD)[J].Eur Heart J,2013,35(30):2010-2020.
[17]Dimitrow PP,Bober M,Micha?owska J,et al.Left ventricular outflow tract gradient provoked by upright position or exercise in treated patients with hypertrophic cardiomyopathy without obstruction at rest[J].Echocardiography,2009,26(5):513-520.
[18]Ciliberti P,McLeod I,Cairello F,et al.Semi-supine exercise stress echocardiography in children and adolescents:feasibility and safety[J].Pediatr Cardiol,2015,36(3):633-639.
[19]Wilke L,Schneyder FEA,Roskopf M,et al.Speckle tracking stress echocardiography in children:interobserver and intraobserver reproducibility and the impact of echocardiographic image quality[J].Sci Rep,2018,8(1):9185.
[20]Urbano-Moral JA,Rowin EJ,Maron MS,et al.Investigation of global and regional myocardial mechanics with 3D speckle tracking echocardiography and relations to hypertrophy and fibrosis in hypertrophic cardiomyopathy[J].Circ Cardiovasc Imaging,2014,7(1):11-19.
[21]Lipshultz SE,Orav EJ,Wilkinson JD,et al.Risk stratification at diagnosis for children with hypertrophic cardiomyopathy:an analysis of data from the Pediatric Cardiomyopathy Registry[J].Lancet,2013,382(9908):1889-1897.
[22]Biagini E,Spirito P,Rocchi G,et al.Prognostic implications of the Doppler restrictive filling pattern in hypertrophic cardiomyopathy[J].Am J Cardiol,2009,104(12):1727-1731.
[23]Mitter SS,Shah SJ,Thomas JD.A test in context:E/A and E/e’to assess diastolic dysfunction and LV filling pressure[J].J Am Coll Cardiol,2017,69(11):1451-1464.
[24]Kitaoka H,Kubo T,Okawa M,et al.Tissue doppler imaging and plasma BNP levels to assess the prognosis in patients with hypertrophic cardiomyopathy[J].J Am Soc Echocardiogr,2011,24(9):1020-1025.
[25]Guttmann OP,Rahman MS,O’mahony C,et al.Atrial fibrillation and thromboembolism in patients with hypertrophic cardiomyopathy:systematic review[J].Heart,2014,100(6):465-472.
[26]Tani T,Yagi T,Kitai T,et al.Left atrial volume predicts adverse cardiac and cerebrovascular events in patients with hypertrophic cardiomyopathy[J].Cardiovasc Ultrasound,2011,9(1):34.
[27]Morita H,Rehm HL,Menesses A,et al.Shared genetic causes of cardiac hypertrophy in children and adults[J].N Engl J Med,2008,358(18):1899-1908.
[28]Kassem HSh,Azer RS,Saber-Ayad M,et al.Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program[J].J Cardiovasc Transl Res,2013,6(1):65-80.
[29]Colan SD,Lipshultz SE,Lowe AM,et al.Epidemiology and causespecific outcome of hypertrophic cardiomyopathy in children:findings from the Pediatric Cardiomyopathy Registry[J].Circulation,2007,115(6):773-781.
[30]Rapezzi C,Arbustini E,Caforio ALP,et al.Diagnostic workup in cardiomyopathies:bridging the gap between clinical phenotypes and final diagnosis.A position statement from the ESCWorking Group on Myocardial and Pericardial Diseases[J].Eur Heart J,2012,34(19):1448-1458.
[31]Flachskampf FA,Wouters PF,Edvardsen T,et al.Recommendations for transoesophageal echocardiography:EACVI update2014[J].Eur Heart J Cardiovasc Imaging,2014,15(4):353-365.
[32]Liu L,Li J,Zuo L,et al.Percutaneous intramyocardial septal radiofrequency ablation for hypertrophic obstructive cardiomyopathy[J].J Am Coll Cardiol,2018,72(16):1898-1909.