Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: Hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome - A statement for healthcare professionals from the councils on clinical cardiology, cardiovascular disease in the young, and basic science, American Heart Association

被引:99
作者
Maron, BJ [1 ]
Moller, JH [1 ]
Seidman, CE [1 ]
Vincent, GM [1 ]
Dietz, HC [1 ]
Moss, AJ [1 ]
Towbin, JA [1 ]
Sondheimer, HM [1 ]
Pyeritz, RE [1 ]
McGee, G [1 ]
Epstein, AE [1 ]
机构
[1] Amer Heart Assoc, Publ Informat, Dallas, TX 75231 USA
关键词
genetics; long-QT syndrome; cardiovascular diseases; cardiomyopathy; hypertrophic; Marfan syndrome; diagnosis;
D O I
10.1161/01.CIR.98.14.1460
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1460 / 1471
页数:12
相关论文
共 143 条
[1]   ERRORS IN THE VISUAL DETERMINATION OF CORRECTED QT (QTC) INTERVAL DURING ACUTE MYOCARDIAL-INFARCTION [J].
AHNVE, S .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1985, 5 (03) :699-702
[2]   PROGNOSTIC IMPLICATIONS OF NOVEL BETA-CARDIAC MYOSIN HEAVY-CHAIN GENE-MUTATIONS THAT CAUSE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY [J].
ANAN, R ;
GREVE, G ;
THIERFELDER, L ;
WATKINS, H ;
MCKENNA, WJ ;
SOLOMON, S ;
VECCHIO, C ;
SHONO, H ;
NAKAO, S ;
TANAKA, H ;
MARES, A ;
TOWBIN, JA ;
SPIRITO, P ;
ROBERTS, R ;
SEIDMAN, JG ;
SEIDMAN, CE .
JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (01) :280-285
[3]   MISSENSE MUTATIONS IMPAIR INTRACELLULAR PROCESSING OF FIBRILLIN AND MICROFIBRIL ASSEMBLY IN MARFAN-SYNDROME [J].
AOYAMA, T ;
TYNAN, K ;
DIETZ, HC ;
FRANCKE, U ;
FURTHMAYR, H .
HUMAN MOLECULAR GENETICS, 1993, 2 (12) :2135-2140
[4]   K(v)LQT1 and IsK (minK) proteins associate to form the I-Ks cardiac potassium current [J].
Barhanin, J ;
Lesage, F ;
Guillemare, E ;
Fink, M ;
Lazdunski, M ;
Romey, G .
NATURE, 1996, 384 (6604) :78-80
[5]  
Beauchamp T., 1989, PRINCIPLES BIOMEDICA
[6]   INTERNATIONAL NOSOLOGY OF HERITABLE DISORDERS OF CONNECTIVE-TISSUE, BERLIN, 1986 [J].
BEIGHTON, P ;
DEPAEPE, A ;
DANKS, D ;
FINIDORI, G ;
GEDDEDAHL, T ;
GOODMAN, R ;
HALL, JG ;
HOLLISTER, DW ;
HORTON, W ;
MCKUSICK, VA ;
OPITZ, JM ;
POPE, FM ;
PYERITZ, RE ;
RIMOIN, DL ;
SILLENCE, D ;
SPRANGER, JW ;
THOMPSON, E ;
TSIPOURAS, P ;
VILJOEN, D ;
WINSHIP, I ;
YOUNG, I .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 29 (03) :581-594
[7]   EVIDENCE OF GENETIC-HETEROGENEITY IN THE LONG QT SYNDROME [J].
BENHORIN, J ;
KALMAN, YM ;
MEDINA, A ;
TOWBIN, J ;
RAVEHAREL, N ;
DYER, TD ;
BLANGERO, J ;
MACCLUER, JW ;
KEREM, BS .
SCIENCE, 1993, 260 (5116) :1960-1962
[8]   MOLECULAR MECHANISM FOR AN INHERITED CARDIAC-ARRHYTHMIA [J].
BENNETT, PB ;
YAZAWA, K ;
MAKITA, N ;
GEORGE, AL .
NATURE, 1995, 376 (6542) :683-685
[9]   CARDIAC MYOSIN BINDING PROTEIN-C GENE SPLICE ACCEPTOR SITE MUTATION IS ASSOCIATED WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY [J].
BONNE, G ;
CARRIER, L ;
BERCOVICI, J ;
CRUAUD, C ;
RICHARD, P ;
HAINQUE, B ;
GAUTEL, M ;
LABEIT, S ;
JAMES, M ;
BECKMANN, J ;
WEISSENBACH, J ;
VOSBERG, HP ;
FISZMAN, M ;
KOMAJDA, M ;
SCHWARTZ, K .
NATURE GENETICS, 1995, 11 (04) :438-440
[10]  
Bottinelli R, 1998, CIRC RES, V82, P106