[1] |
JENSEN M K, HAVNDRUP O, CHRISTIANSEN M,et al. Penetrance of hypertrophic cardiomyopathy in children and adolescents:a 12-year follow-up study of clinical screening and predictive genetic testing[J]. Circulation, 2013, 127(1):48-54. DOI: 10.1161/CIRCULATIONAHA.111.090514.
|
[2] |
|
[3] |
MARON B J, SEIDMAN J G, SEIDMAN C E. Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy[J]. J Am Coll Cardiol, 2004, 44(11):2125-2132. DOI: 10.1016/j.jacc.2004.08.052.
|
[4] |
NIIMURA H, BACHINSKI L L, SANGWATANAROJ S,et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy[J]. N Engl J Med, 1998, 338(18):1248-1257. DOI: 10.1056/nejm199804303381802.
|
[5] |
SEDAGHAT-HAMEDANI F, KAYVANPOUR E, TUGRUL O F,et al. Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy:a meta-analysis on 7675 individuals[J]. Clin Res Cardiol, 2018, 107(1):30-41. DOI: 10.1007/s00392-017-1155-5.
|
[6] |
HO C Y, DAY S M, ASHLEY E A,et al. Genotype and lifetime burden of disease in hypertrophic cardiomyopathy:insights from the sarcomeric human cardiomyopathy registry (SHaRe)[J]. Circulation, 2018, 138(14):1387-1398. DOI: 10.1161/CIRCULATIONAHA.117.033200.
|
[7] |
BAUDRY G, MANSENCAL N, REYNAUD A,et al. Global and regional echocardiographic strain to assess the early phase of hypertrophic cardiomyopathy due to sarcomeric mutations[J]. Eur Heart J Cardiovasc Imaging, 2020, 21(3):291-298. DOI: 10.1093/ehjci/jez084.
|
[8] |
|
[9] |
SARAIVA R M, DEMIRKOL S, BUAKHAMSRI A,et al. Left atrial strain measured by two-dimensional speckle tracking represents a new tool to evaluate left atrial function[J]. J Am Soc Echocardiogr, 2010, 23(2):172-180. DOI: 10.1016/j.echo.2009.11.003.
|
[10] |
|
[11] |
|
[12] |
THOMAS L, MARWICK TH, POPESCU BA,et al. Left atrial structure and function,and left ventricular diastolic dysfunction:JACC state-of-the-art review[J]. J Am Coll Cardiol, 2019, 73(15):1961-1977. DOI: 10.1016/j.jacc.2019.01.059.
|
[13] |
PAGE S P, KOUNAS S, SYRRIS P,et al. Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy:disease expression in relation to age,gender,and long term outcome[J]. Circ Cardiovasc Genet, 2012, 5(2):156-166. DOI: 10.1161/CIRCGENETICS.111.960831.
|
[14] |
LORENZINI M, NORRISH G, FIELD E,et al. Penetrance of hypertrophic cardiomyopathy in sarcomere protein mutation carriers[J]. J Am Coll Cardiol. 2020, 76(5):550-559. DOI: 10.1016/j.jacc.2020.06.011.
|
[15] |
CHUNG H, KIM Y, PARK C H,et al. Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy[J]. Cardiovasc Ultrasound, 2021, 19(1):4. DOI: 10.1186/s12947-020-00233-y.
|
[16] |
GANDJBAKHCH E, GACKOWSKI A, TEZENAS DU MONTCEL S,et al. Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging[J]. Eur Heart J, 2010, 31(13):1599-1607. DOI: 10.1093/eurheartj/ehq101.
|
[17] |
WILLIAMS L K, MISURKA J, HO C Y,et al. Multilayer myocardial mechanics in genotype-positive left ventricular hypertrophy-negative patients with hypertrophic cardiomyopathy[J]. Am J Cardiol, 2018, 122(10):1754-1760. DOI: 10.1016/j.amjcard.2018.08.008.
|
[18] |
TURVEY L, AUGUSTINE D X, ROBINSON S,et al. Transthoracic echocardiography of hypertrophic cardiomyopathy in adults:a practical guideline from the British Society of Echocardiography[J]. Echo Res Pract, 2021, 8(1):61-86. DOI: 10.1530/ERP-20-0042.
|
[19] |
HELLER M J, NILI M, HOMSHER E,et al. Cardiomyopathic tropomyosin mutations that increase thin filament Ca 2+ sensitivity and tropomyosin N-domain flexibility[J]. J Biol Chem, 2003, 278(43):41742-41748. DOI: 10.1074/jbc.M303408200.
|
[20] |
BAI F, WEIS A, TAKEDA A K,et al. Enhanced active cross-bridges during diastole:molecular pathogenesis of tropomyosin's HCM mutations[J]. Biophys J, 2011, 100(4):1014-1023. DOI: 10.1016/j.bpj.2011.01.001.
|
[21] |
FUJIMOTO K, INOUE K, SAITO M,et al. Incremental value of left atrial active function measured by speckle tracking echocardiography in patients with hypertrophic cardiomyopathy[J]. Echocardiography, 2018, 35(8):1138-1148. DOI: 10.1111/echo.13886.
|
[22] |
|
[23] |
FARHAD H, SEIDELMANN S B, VIGNEAULT D,et al. Left Atrial structure and function in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy[J]. J Cardiovasc Magn Reson, 2017, 19(1):107. DOI: 10.1186/s12968-017-0420-0.
|
[24] |
MARON B J, MARON M S, SEMSARIAN C. Genetics of hypertrophic cardiomyopathy after 20 years:clinical perspectives[J]. J Am Coll Cardiol, 2012, 60(8):705-715. DOI: 10.1016/j.jacc.2012.02.068.
|
[25] |
HARRIS S P, LYONS R G, BEZOLD K L. In the thick of it:HCM-causing mutations in myosin binding proteins of the thick filament[J]. Circ Res, 2011, 108(6):751-764. DOI: 10.1161/CIRCRESAHA.110.231670.
|
[26] |
|
[27] |
MARON B J, MARON M S, SEMSARIAN C. Genetics of hypertrophic cardiomyopathy after 20 years:clinical perspectives[J]. J Am Coll Cardiol, 2012, 60(8):705-715. DOI: 10.1016/j.jacc.2012.02.068.
|
[28] |
|
[29] |
KOWALLICK J T, SILVA VIEIRA M, KUTTY S,et al. Left atrial performance in the course of hypertrophic cardiomyopathy:relation to left ventricular hypertrophy and fibrosis[J]. Invest Radiol, 2017, 52(3):177-185. DOI: 10.1097/RLI.0000000000000326.
|
[30] |
EL AOUAR L M M, MEYERFREUD D, MAGALHÃES P,et al. Relationship between left atrial volume and diastolic dysfunction in 500 Brazilian patients[J]. Arquivos Brasileiros De Cardiol, 2013:52-58. DOI: 10.5935/abc.20130109.
|