Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging

European Heart Journal

Volumn 31, Issue 13, 2010, Pages 1599-1607

  Gandjbakhch, Estelle ^a   Gackowski, Andrzej ^a   Tezenas Du Montcel, Sophie ^a,b   Isnard, Richard ^a   Hamroun, Amel ^a   Richard, Pascale ^a   Komajda, Michel ^a   Charron, Philippe ^a,b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

Author keywords

Diagnosis; Echocardiography; Genetics; Hypertrophic cardiomyopathy; Tissue Doppler imaging

Indexed keywords

ADULT; ARTICLE; DOPPLER ECHOCARDIOGRAPHY; EARLY DIAGNOSIS; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FEMALE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIVARIATE LOGISTIC REGRESSION ANALYSIS; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY; TISSUE DOPPLER IMAGING;

ADOLESCENT; ADULT; AGED; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CASE-CONTROL STUDIES; EARLY DIAGNOSIS; ECHOCARDIOGRAPHY; HETEROZYGOTE DETECTION; HUMANS; LASER-DOPPLER FLOWMETRY; MIDDLE AGED; MUTATION; YOUNG ADULT;

EID: 77954334172     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehq101     Document Type: Article

References (33)

1. Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, Shah PM, Spencer WH, Spirito P, Ten Cate FJ, Wigle ED. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol 2003;42:1687-1713. (Pubitemid 37383745) (Pubitemid 37383745)
2. Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kuhl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008;29:270-276.
3. Charron P, Carrier L, Dubourg O, Tesson F, Desnos M, Richard P, Bonne G, Guicheney P, Hainque B, Bouhour JB, Mallet A, Feingold J, Schwartz K, Komajda M. Penetrance of familial hypertrophic cardiomyopathy. Genet Couns 1997;8:107-114.
4. Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O?Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG, Seidman CE. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardio-myopathy. N Engl J Med 1995;332:1058-1064.
5. Varnava AM, Elliott PM, Baboonian C, Davison F, Davies MJ, McKenna WJ. Hyper-trophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease. Circulation 2001;104:1380-1384.
6. Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hyper-trophic cardiomyopathy. N Engl J Med 1998;338:1248-1257.
7. Charron P, Dubourg O, Desnos M, Bennaceur M, Carrier L, Camproux AC, Isnard R, Hagege A, Langlard JM, Bonne G, Richard P, Hainque B, Bouhour JB, Schwartz K, Komajda M. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation 1998;97:2230-2236.
8. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001;104:557-567.
9. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003;107:2227-2232.
10. Marian AJ, Zhao G, Seta Y, Roberts R, Yu QT. Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility. Circ Res 1997;81:76-85.
11. Marian AJ. Pathogenesis of diverse clinical and pathological phenotypes in hyper-trophic cardiomyopathy. Lancet 2000;355:58-60.
12. Kim SJ, Iizuka K, Kelly RA, Geng YJ, Bishop SP, Yang G, Kudej A, McConnell BK, Seidman CE, Seidman JG, Vatner SF. An alpha-cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes. Am J Physiol 1999;276:H1780-H1787.
13. Nagueh SF, Middleton KJ, Kopelen HA, Zoghbi WA, Quinones MA. Doppler tissue imaging: a noninvasive technique for evaluation of left ventricular relaxation and estimation of filling pressures. J Am Coll Cardiol 1997;30:1527-1533.
14. Nagueh SF, Kopelen HA, Lim DS, Zoghbi WA, Quinones MA, Roberts R, Marian AJ. Tissue Doppler imaging consistently detects myocardial contraction and relaxation abnormalities, irrespective of cardiac hypertrophy, in a transgenic rabbit model of human hypertrophic cardiomyopathy. Circulation 2000;102: 1346-1350.
15. Nagueh SF, Bachinski LL, Meyer D, Hill R, Zoghbi WA, Tam JW, Quinones MA, Roberts R, Marian AJ. Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy. Circulation 2001;104:128-130.
16. Cardim N, Perrot A, Ferreira T, Pereira A, Osterziel KJ, Reis RP, Correia JF. Usefulness of Doppler myocardial imaging for identification of mutation carriers of familial hypertrophic cardiomyopathy. Am J Cardiol 2002;90:128-132.
17. Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation 2002;105:2992-2997.
18. Michels M, Soliman OI, Kofflard MJ, Hoedemaekers YM, Dooijes D, Majoor-Krakauer D, ten Cate FJ. Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations. JACC Cardiovasc Imaging 2009;2:58-64.
19. Spirito P, Maron BJ. Relation between extent of left ventricular hypertrophy and occurrence of sudden cardiac death in hypertrophic cardiomyopathy. J Am Coll Cardiol 1990;15:1521-1526. (Pubitemid 20174311) (Pubitemid 20174311)
20. Forissier JF, Charron P, Tezenas du Montcel S, Hagege A, Isnard R, Carrier L, Richard P, Desnos M, Bouhour JB, Schwartz K, Komajda M, Dubourg O. Diagnostic accuracy of a 2D left ventricle hypertrophy score for familial hypertrophic cardiomyopathy. Eur Heart J 2005;26:1882-1886.
21. Lang RM, Bierig M, Devereux RB, Flachskampf FA, Foster E, Pellikka PA, Picard MH, Roman MJ, Seward J, Shanewise JS, Solomon SD, Spencer KT, Sutton MS, Stewart WJ. Recommendations for chamber quantification: a report from the American Society of Echocardiography?s Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr 2005;18:1440-1463.
22. Ganau A, Devereux RB, Roman MJ, de Simone G, Pickering TG, Saba PS, Vargiu P, Simongini I, Laragh JH. Patterns of left ventricular hypertrophy and geometric remodeling in essential hypertension. J Am Coll Cardiol 1992;19:1550-1558.
23. Konno T, Shimizu M, Ino H, Yamaguchi M, Terai H, Uchiyama K, Oe K, Mabuchi T, Kaneda T, Mabuchi H. Diagnostic value of abnormal Q waves for identification of preclinical carriers of hypertrophic cardiomyopathy based on a molecular genetic diagnosis. Eur Heart J 2004;25:246-251.
24. Charron P, Dubourg O, Desnos M, Isnard R, Hagege A, Millaire A, Carrier L, Bonne G, Tesson F, Richard P, Bouhour JB, Schwartz K, Komajda M. Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population. Circulation 1997;96:214-219.
25. Konno T, Shimizu M, Ino H, Fujino N, Hayashi K, Uchiyama K, Kaneda T, Inoue M, Masuda E, Mabuchi H. Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects. J Intern Med 2005;258:216-224.
26. Shimizu M, Ino H, Yamaguchi M, Terai H, Hayashi K, Kiyama M, Sakata K, Hayashi T, Inoue M, Kaneda T, Mabuchi H. Chronologic electrocardiographic changes in patients with hypertrophic cardiomyopathy associated with cardiac troponin 1 mutation. Am Heart J 2002;143:289-293.
27. Geisterfer-Lowrance AA, Christe M, Conner DA, Ingwall JS, Schoen FJ, Seidman CE, Seidman JG. A mouse model of familial hypertrophic cardiomyopa-thy. Science 1996;272:731-734.
28. Georgakopoulos D, Christe ME, Giewat M, Seidman CM, Seidman JG, Kass DA. The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation. Nat Med 1999;5:327-330.
29. McKenna WJ, Stewart JT, Nihoyannopoulos P, McGinty F, Davies MJ. Hyper-trophic cardiomyopathy without hypertrophy: two families with myocardial disarray in the absence of increased myocardial mass. Br Heart J 1990;63:287-290.
30. Maron BJ, Roberts WC. Hypertrophic cardiomyopathy and cardiac muscle cell disorganization revisited: relation between the two and significance. Am Heart J 1981;102:95-110.
31. Maron BJ, Kragel AH, Roberts WC. Sudden death in hypertrophic cardiomyopa-thy with normal left ventricular mass. Br Heart J 1990;63:308-310.
32. Kaneda T, Shimizu M, Ino H, Yamaguchi M, Terai H, Fujino N, Nagata M, Sakata K, Mabuchi H. Changes in cardiac tissue characterization in carriers with gene mutations associated with hypertrophic cardiomyopathy. Int J Cardiol 2005;104: 170-175.
33. McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 1997;77:130-132.