儿童畸形综合征伴发的肥厚型心肌病
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摘要
肥厚型心肌病(HCM)是除外单纯由心脏负荷增加等原因引起的左室壁增厚,包括由编码心肌肌小节相关蛋白基因突变所致的家族性HCM,也包括由编码非肌小节相关蛋白的基因突变导致的基因性HCM。畸形综合征表现为多系统、多器官的结构和(或)功能异常的症候群,HCM可作为其心血管系统病变的惟一或主要的表现形式。该文简要介绍了儿童畸形综合征伴发的HCM。
Hypertrophic cardiomyopathy(HCM) is defined by the presence of increased left ventricular(LV)wall thickness that is not solely explained by abnormal loading conditions. It includes familial HCM caused by mutations in the genes encoding the cardiac muscle branch contraction-associated protein,as well as hereditary HCM caused by mutations in genes encoding non-muscle-contracting system-associated proteins. Malformation syndromes are symptom complex characterized by multi-system and multi-organ abnormality. HCM can be the only or major manifestation of its cardiovascular system lesions. The article will briefly introduce HCM associated with malformation syndrome in children.
Hypertrophic cardiomyopathy(HCM) is defined by the presence of increased left ventricular(LV)wall thickness that is not solely explained by abnormal loading conditions. It includes familial HCM caused by mutations in the genes encoding the cardiac muscle branch contraction-associated protein,as well as hereditary HCM caused by mutations in genes encoding non-muscle-contracting system-associated proteins. Malformation syndromes are symptom complex characterized by multi-system and multi-organ abnormality. HCM can be the only or major manifestation of its cardiovascular system lesions. The article will briefly introduce HCM associated with malformation syndrome in children.
引文
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[15]Muthiah R.Costello syndrome with congenital pulmonary valve stenosis and ventriculomegaly:a case report[J].Case Report Clin Med,2016,5(8):250-267.
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[17]Calcagni G,Adorisio R,Martinelli S,et al.Clinical presentation and natural history of hypertrophic cardiomyopathy in RA-Sopathies[J].Heart Fail Clin,2018,14(2):225-235.
[18]Koeppen AH,Ramirez RL,Becker AB,et al.The pathogenesis of cardiomyopathy in Friedreich ataxia[J].PloS One,2015,10(3):e116396.
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[20]Gelb BD,Roberts AE,Tartaglia M.Cardiomyopathies in Noonan syndrome and the other RASopathies[J].Prog Pediatr Cardiol,2015,39(1):13-19.
[21]Romano AA,Allanson JE,Dahlgren J,et al.Noonan syndrome:clinical features,diagnosis,and management guidelines[J].Pediatrics,2010,126(4):746-759.
[22]Santoro C,Pacileo G,Limongelli G,et al.LEOPARD syndrome:clinical dilemmas in differential diagnosis of RASopathies[J].BMC Med Genet,2014,26(15):44.
[23]Abe Y,Aoki Y,Kuriyama S,et al.Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan:Findings from a nationwide epidemiological survey[J].Am J Med Genet A,2012,158A(5):1083-1094.
[24]Cook A,Giunti P.Friedreich’s ataxia:clinical features,pathogenesis and management[J].Br Med Bull,2017,124(1):19-30.
[25]Wilkinson JD,Lowe AM,Salbert BA,et al.Outcomes in children with noonan syndrome and hypertrophic cardiomyopathy:a study from the pediatric cardiomyopathy registry[J].Am Heart J,2012,164(3):442-448.
[26]Limongelli G,Pacileo G,Marino B,et al.Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome[J].Am J Cardiol,2007,100(4):736-741.
[27]杨世伟,秦玉明.儿童心肌病遗传学研究进展与精准诊断展望[J].中国实用儿科杂志,2016,31(8):574-578.
[28]Marin TM,Keith K,Davies B,et al.Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARDsyndrome-associated PTPN11 mutation[J].J Clin Invest,2011,121(3):1026-1043.
[29]Hausse AO,Aggoun Y,Bonnet D,et al.Idebenone and reduced cardiac hypertrophy in Friedreich’s ataxia[J].Heart,2002,87(4):346-349.
[2]张乾忠,马沛然,陈新民,等.小儿心肌病诊治进展[J].中国实用儿科杂志,2006,21(2):81-92.
[3]Prendiville TW,Gauvreau K,Tworog-Dube E,et al.Cardiovascular disease in Noonan syndrome[J].Arch Dis Child,2014,99(7):629-634.
[4]Weidemann F,Liu D,Hu K,et al.The cardiomyopathy in Friedreich’s ataxia-New biomarker for staging cardiac involvement[J].Int J Cardiol,2015,194:50-57.
[5]Cohen MJ.Beckwith-Wiedemann syndrome:historical,clinicopathological,and etiopathogenetic perspectives[J].Pediatr Dev Pathol,2005,8(3):287-304.
[6]李卓,崔满华,张曦文,等.46,XY单纯性性腺发育不全1例[J].疑难病杂志,2018(11):1284-1285.
[7]Roberts AE,Allanson JE,Tartaglia M,et al.Noonan syndrome[J].Lancet,2013,381(9863):333-342.
[8]王本臻,纪志娴,万浩,等.基因检测在儿童非肌小节肥厚性心肌病诊断中的价值[J].精准医学杂志,2018,33(5):385-390.
[9]Martinez-Quintana E,Rodriguez-Gonzalez F.LEOPARD Syndrome:Clinical features and gene mutations[J].Mol Syndromol,2012,3(4):145-157.
[10]Lo IF,Brewer C,Shannon N,et al.Severe neonatal manifestations of Costello syndrome[J].J Med Genet,2008,45(3):167-171.
[11]Pierpont ME,Magoulas PL,Adi S,et al.Cardio-facio-cutaneous syndrome:clinical features,diagnosis,and management guidelines[J].Pediatrics,2014,134(4):e1149-e1162.
[12]Gelb BD,Roberts AE,Tartaglia M.Cardiomyopathies in Noonan syndrome and the other RASopathies[J].Prog Pediatr Cardiol,2015,39(1):13-19.
[13]Hahn A,Lauriol J,Thul J,et al.Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines:palliative treatment with a rapamycin analog[J].Am J Med Genet A,2015,167A(4):744-751.
[14]Aoki Y,Niihori T,Inoue S,et al.Recent advances in RASopathies[J].J Hum Genet,2016,61(1):33-39.
[15]Muthiah R.Costello syndrome with congenital pulmonary valve stenosis and ventriculomegaly:a case report[J].Case Report Clin Med,2016,5(8):250-267.
[16]Lin AE,Alexander ME,Colan SD,et al.Clinical,pathological,and molecular analyses of cardiovascular abnormalities in Costello syndrome:a Ras/MAPK pathway syndrome[J].Am JMed Genet A,2011,155A(3):486-507.
[17]Calcagni G,Adorisio R,Martinelli S,et al.Clinical presentation and natural history of hypertrophic cardiomyopathy in RA-Sopathies[J].Heart Fail Clin,2018,14(2):225-235.
[18]Koeppen AH,Ramirez RL,Becker AB,et al.The pathogenesis of cardiomyopathy in Friedreich ataxia[J].PloS One,2015,10(3):e116396.
[19]Weidemann F,Rummey C,Bijnens B,et al.The heart in Friedreich ataxia:definition of cardiomyopathy,disease severity,and correlation with neurological symptoms[J].Circulation,2012,125(13):1626-1634.
[20]Gelb BD,Roberts AE,Tartaglia M.Cardiomyopathies in Noonan syndrome and the other RASopathies[J].Prog Pediatr Cardiol,2015,39(1):13-19.
[21]Romano AA,Allanson JE,Dahlgren J,et al.Noonan syndrome:clinical features,diagnosis,and management guidelines[J].Pediatrics,2010,126(4):746-759.
[22]Santoro C,Pacileo G,Limongelli G,et al.LEOPARD syndrome:clinical dilemmas in differential diagnosis of RASopathies[J].BMC Med Genet,2014,26(15):44.
[23]Abe Y,Aoki Y,Kuriyama S,et al.Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan:Findings from a nationwide epidemiological survey[J].Am J Med Genet A,2012,158A(5):1083-1094.
[24]Cook A,Giunti P.Friedreich’s ataxia:clinical features,pathogenesis and management[J].Br Med Bull,2017,124(1):19-30.
[25]Wilkinson JD,Lowe AM,Salbert BA,et al.Outcomes in children with noonan syndrome and hypertrophic cardiomyopathy:a study from the pediatric cardiomyopathy registry[J].Am Heart J,2012,164(3):442-448.
[26]Limongelli G,Pacileo G,Marino B,et al.Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome[J].Am J Cardiol,2007,100(4):736-741.
[27]杨世伟,秦玉明.儿童心肌病遗传学研究进展与精准诊断展望[J].中国实用儿科杂志,2016,31(8):574-578.
[28]Marin TM,Keith K,Davies B,et al.Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARDsyndrome-associated PTPN11 mutation[J].J Clin Invest,2011,121(3):1026-1043.
[29]Hausse AO,Aggoun Y,Bonnet D,et al.Idebenone and reduced cardiac hypertrophy in Friedreich’s ataxia[J].Heart,2002,87(4):346-349.